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Journal articles on the topic 'Abnormality in the Cerebellum'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Ciesielski, Kristina, and Jeanne Knight. "Cerebellar abnormality in autism: a nonspecific effect of early brain damage?" Acta Neurobiologiae Experimentalis 54, no. 2 (1994): 151–54. http://dx.doi.org/10.55782/ane-1994-1012.

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Cerebellum may be a common site of developmental abnormalities due to its protracted course of maturation. Recent studies have implicated morphological deviations of the cerebellum as responsible for specific behavioral and cognitive manifestations of autism. We investigated neuropsychology and quantitative MRI of the cerebellum in both high functioning subjects with autism and survivors of childhood leukemia treated with radiation and intrathecal chemotherapy. The results of neuropsychological testing revealed different patterns of cognitive deficits for the two groups, while the abnormal cer

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Townsend, Jeanne, Eric Courchesne, and Brian Egaas. "Slowed orienting of covert visual-spatial attention in autism: Specific deficits associated with cerebellar and parietal abnormality." Development and Psychopathology 8, no. 3 (1996): 563–84. http://dx.doi.org/10.1017/s0954579400007276.

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AbstractThe most commonly reported finding from structural brain studies in autism is abnormality of the cerebellum. Autopsy and magnetic resonance imaging (MR) studies from nine independent research groups have found developmental abnormality of the cerebellar vermis or hemispheres in the majority of the more than 240 subjects with autism who were studied. We reported previously that patients with autism and those with acquired damage to the cerebellum were slow to shift attention between and within sensory modalities. In this study, we found that patients with autism who come from a group wi

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Anonnya, Kaniz Fatema, Md Rezaul Ekram, Pranab Kumar Mallik, Mohammad Rafiqul Islam, and Md Robed Amin. "Dandy Walker Syndrome- A 13 Years Old Girl With Walking Difficulties." Bangladesh Journal of Medicine 27, no. 1 (2016): 33–36. http://dx.doi.org/10.3329/bjmed.v27i1.28073.

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DandyWalker malformation (DWM) is a uncommon intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar vermis, fourth ventricle and is characterized by an enlarged posterior fossa. Although there is an extensive list of signs attributed to DWM, final diagnosis is solely dependent on imaging techniques as there are no signs that are characteristic of DWM. This article reports a case with DWM who was diagnosed by magnetic resonance imaging.Bangladesh J Medicine Jan 2016; 27(1) : 33-36

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Fukushima, Shintaro, Mizuhiko Terasaki, Yutaka Tajima, and Minoru Shigemori. "Granulocytic sarcoma: an unusual complication of acute promyelocytic leukemia causing cerebellar hemorrhage." Journal of Neurosurgery 105, no. 6 (2006): 912–15. http://dx.doi.org/10.3171/jns.2006.105.6.912.

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✓Granulocytic sarcomas are rare tumors that occur primarily in patients with acute myelogenous leukemia or other myeloproliferative disorders, are seldom seen in patients with acute promyelocytic leukemia (APL), and have never been reported to occur in the cerebellum. The authors describe the case of a patient with APL who harbored a hemorrhagic granulocytic sarcoma in the cerebellum. This 39-year-old woman presented with cerebellar ataxia. Magnetic resonance images revealed an intraaxial tumor in the cerebellum. Bone marrow samples showing infiltration by leukemic blast cells and data from he

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Mesiwala, Ali H., John D. Kuratani, Anthony M. Avellino, Theodore S. Roberts, Marcio A. Sotero, and Richard G. Ellenbogen. "Focal motor seizures with secondary generalization arising in the cerebellum." Journal of Neurosurgery 97, no. 1 (2002): 190–96. http://dx.doi.org/10.3171/jns.2002.97.1.0190.

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✓ The issue of whether seizures can arise in the cerebellum remains controversial. The authors present the first known case of focal subcortical epilepsy with secondary generalization thought to arise from a dysplastic lesion within the cerebellum. A newborn infant presented with daily episodes of left eye blinking, stereotyped extremity movements, postural arching, and intermittent altered consciousness lasting less than 1 minute. These episodes began on his 1st day of life and progressively increased in frequency to more than 100 events per day. Antiepileptic medications had no effect, and i

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Lu, Qifang, Jin Chen, Yanming Wang, et al. "Cerebellar Structural Abnormality in Autism Spectrum Disorder: A Magnetic Resonance Imaging Study." Psychiatry Investigation 20, no. 4 (2023): 334–40. http://dx.doi.org/10.30773/pi.2022.0254.

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Objective This study uses structural magnetic resonance imaging to explore changes in the cerebellar lobules in patients with autism spectrum disorder (ASD) and further analyze the correlation between cerebellar structural changes and clinical symptoms of ASD.Methods A total of 75 patients with ASD and 97 typically developing (TD) subjects from Autism Brain Imaging Data Exchange dataset were recruited. We adopted an advanced automatic cerebellar lobule segmentation technique called CEREbellum Segmentation to segment each cerebellar hemisphere into 12 lobules. Normalized cortical thickness of e

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Armién, A. G., D. L. McRuer, M. G. Ruder, and A. Wünschmann. "Purkinje Cell Heterotopy With Cerebellar Hypoplasia in Two Free-Living American Kestrels (Falco sparverius)." Veterinary Pathology 50, no. 1 (2012): 182–87. http://dx.doi.org/10.1177/0300985812442690.

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Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective foliation. Heterotopic neurons were identified as immature Purkinje cells by their size, location, immunoreactivity for calbindin D-28 K, and ultrastructural features. The authors suggest that this cerebellar abnormality was likely due to a disruption of molecular mechanisms that dictate Purkinje cell

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SACHDEV, PERMINDER S., and HENRY BRODATY. "Mid-sagittal anatomy in late-onset schizophrenia." Psychological Medicine 29, no. 4 (1999): 963–70. http://dx.doi.org/10.1017/s0033291799008685.

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Background. Of the midline brain structures, abnormalities have been demonstrated in the corpus callosum and cerebellum in young schizophrenic patients. Whether similar abnormalities are also present in late-onset schizophrenia (LOS) is not known.Methods. The mid-sagittal cross-sectional areas of brain regions, in particular the corpus callosum and cerebellum, on magnetic resonance imaging were examined in a group of patients with late-onset schizophrenia (N=25) and contrasted with two comparison groups – early-onset schizophrenia (EOS) (N=2524) and healthy volunteers (NC) (N=2530) matched for

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9

Park, H., J. Cha, H. Kim, and E. Joo. "0724 Altered Brain Network Organization in Patients With Obstructive Sleep Apnea." Sleep 43, Supplement_1 (2020): A275—A276. http://dx.doi.org/10.1093/sleep/zsaa056.720.

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Abstract Introduction Previous functional MRI (fMRI) studies have reported altered brain networks in patients with obstructive sleep apnea (OSA), but the extent of such abnormal connectivity was inconsistent across studies. Moreover, despite the important role of the cerebellum in respiration and OSA, connections of the cerebellum to the cerebral cortex have been rarely assessed. Here, we investigated functional network changes in cerebral and cerebellar cortices of OSA patients. Methods Resting-state fMRI, polysomnography and neuropsychological (NP) tests data were acquired from 74 treatment

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Reif, Andreas, Wolfgang Kress, Karl Wurm, Jens Benninghoff, Bruno Pfuhlmann, and Klaus-Peter Lesch. "Duplication 15q14 → pter: a rare chromosomal abnormality underlying bipolar affective disorder." European Psychiatry 19, no. 3 (2004): 179–81. http://dx.doi.org/10.1016/j.eurpsy.2004.03.001.

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AbstractWe have followed up a patient with 8q24.2 → qter and 15q14 → pter duplication due to a maternal reciprocal translocation, a condition related to Prader-Willi Syndrome. Apart from dysmorphic features, the patient suffered from recurring episodes of bipolar psychosis. Interestingly, PET scanning revealed revealed prominent bilateral hypometabolism in the frontal, temporal, and parietal lobes as well as in the cerebellum. Possible implications of this rare chromosomal abnormality with regards to psychiatric disorders are discussed, with emphasis on recent evidence suggesting chromosome 15

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Paudel, S., P. Kayastha, R. Pradhan, RK Ghimire, and MA Ansari. "Coincidence of Congenital Diaphragmatic Hernia and Arnold Chiari II Malformation: A Case Report." Nepalese Journal of Radiology 2, no. 1 (2012): 46–49. http://dx.doi.org/10.3126/njr.v2i1.6981.

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Congenital diaphragmatic hernia is the developmental abnormality in which abdominal viscera herniate into the thoracic cavity through defect in the diaphragm. Almost 10% of congenital diaphragmatic hernia has associated central nervous system malformation including anencephaly, myelomeningocele and hydrocephalus. The Arnold-Chiari malformation is a congenital abnormality of Central Nervous System (CNS), characterized by downward displacement of the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. Here we present an extremely rare case with coexistent

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Darmanto, Win. "ABNORMAL STRUKTUR HISTOLOGIS KORTEKS CEREBELLAR TIKUS DENGAN NORMAL FOLIASI AKIBAT IRADIASI SINAR X MASA POSTNATAL." Berkala Penelitian Hayati 11, no. 1 (2006): 13–18. http://dx.doi.org/10.23869/bphjbr.11.1.20053.

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Our previous experiment showed that prenatal exposure of rats to X-irradiation on gestation day 21st as the late gestation period causes heterotopic Purkinje cells and abnormal foliation of the cerebellum. However the present study observed the heterotopik of Purkinje cell layer following exposure of the rats to X-irradiation on postnatal day (P) 4, without abnormal foliation of the cerebellum. It also demonstrated the process of re-derangement of Purkinje cells. Rat pups were exposed to 2.5 Gy X-irradiation and the cerebellum was examined histologically and by immunohistochemistry to identify

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Mark, Hallet, and G. Massaquoi Steve. "Physiologic Studies of Dysmetria in Patients with Cerebellar Deficits." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 20, S3 (1993): S83—S92. http://dx.doi.org/10.1017/s0317167100048587.

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ABSTRACT:A feature of cerebellar ataxia is dysmetria, which is characterized by inaccurate movements. Studies of rapid movements at a single joint show prolonged acceleration phases and prolonged initial bursts of EMG activity in the agonist muscle. These two features correlate with each other, suggesting that the prolongation of the neural signal is responsible for the kinematic abnormality. This explains a tendency to hypermetria. Studies of multijoint movements show abnormalities in relative timing of the different joints. During locomotion, knee and ankle motions can be delayed differentia

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Uggetti, C., E. Fazzi, S. Signorini, et al. "Studio RM dell'encefalo di trentacinque bambini affetti da amaurosi congenita di Leber." Rivista di Neuroradiologia 16, no. 3 (2003): 481–83. http://dx.doi.org/10.1177/197140090301600328.

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There are few literature reports of MR study in children with Leber's congenital amaurosis, a severe early onset autosomal recessive retinal dystrophy. We describe the clinical and neuroradiological findings in 35 patients. Of these, 22 had a normal brain MR scan, four showed mild dilatation of the cortical sulci, two had mild optic-chiasmatic thinning, three showed aspecific white matter changes not involving the primary visual pathway and four had “molar tooth” mesencephalic malformation. Our series confirms literature findings of normal signal and morphology of the primary optic pathway. Po

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Costanzo, Floriana, Ginevra Zanni, Elisa Fucà, et al. "Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study." International Journal of Environmental Research and Public Health 19, no. 3 (2022): 1224. http://dx.doi.org/10.3390/ijerph19031224.

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Cerebellar agenesis is an extremely rare condition characterized by a near complete absence of the cerebellum. The pathogenesis and molecular basis remain mostly unknown. We report the neuroradiological, molecular, neuropsychological and behavioral characterization of a 5-year-old girl, with cerebellar agenesis associated with parietal and peri-Sylvian polymicrogyria, followed-up for 10 years at four time points. Whole exome sequencing identified two rare variants in CSMD1, a gene associated with neurocognitive and psychiatric alterations. Mild intellectual impairment, cerebellar ataxia and de

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16

Allen, Greg, and Eric Courchesne. "Differential Effects of Developmental Cerebellar Abnormality on Cognitive and Motor Functions in the Cerebellum: An fMRI Study of Autism." American Journal of Psychiatry 160, no. 2 (2003): 262–73. http://dx.doi.org/10.1176/appi.ajp.160.2.262.

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Alawadhi, Abdulla, Christine Saint-Martin, Christine Sabapathy, Guillaume Sebire, and Michael Shevell. "Lateral Medullary Syndrome Due to Left Vertebral Artery Occlusion in a Boy Postflexion Neck Injury." Child Neurology Open 6 (January 1, 2019): 2329048X1986780. http://dx.doi.org/10.1177/2329048x19867800.

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Lateral medullary syndrome is rare in pediatrics. It is characterized by neurological deficits due to an ischemic lesion in the lateral medulla. The authors describe a 17-year-old boy who developed lateral medullary syndrome in the context of a hyperflexion neck injury while diving in shallow water with traumatic vascular injury. He had “crossed” neurological deficits above and below the neck. His magnetic resonance angiography showed intra- and extracranial left vertebral artery occlusion and his magnetic resonance imaging showed signal abnormality involving the left lateral medulla and infer

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18

Leaston, Joshua, Craig F. Ferris, Praveen Kulkarni, et al. "Neurovascular imaging with QUTE-CE MRI in APOE4 rats reveals early vascular abnormalities." PLOS ONE 16, no. 8 (2021): e0256749. http://dx.doi.org/10.1371/journal.pone.0256749.

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Cerebrovascular abnormality is linked to Alzheimer’s disease and related dementias (ADRDs). ApoE-Ɛ4 (APOE4) is known to play a critical role in neurovascular dysfunction, however current medical imaging technologies are limited in quantification. This cross-sectional study tested the feasibility of a recently established imaging modality, quantitative ultra-short time-to-echo contrast-enhanced magnetic resonance imaging (QUTE-CE MRI), to identify small vessel abnormality early in development of human APOE4 knock-in female rat (TGRA8960) animal model. At 8 months, 48.3% of the brain volume was

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Miller, William, Charles Lewis Humphrey Pruett, William Stone, et al. "Accumulation of senescence observed in spinocerebellar ataxia type 7 mouse model." PLOS ONE 17, no. 10 (2022): e0275580. http://dx.doi.org/10.1371/journal.pone.0275580.

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Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by a trinucleotide CAG repeat. SCA7 predominantly causes a loss of photoreceptors in the retina and Purkinje cells of the cerebellum. Severe infantile-onset SCA7 also causes renal and cardiac irregularities. Previous reports have shown that SCA7 results in increased susceptibility to DNA damage. Since DNA damage can lead to accumulation of senescent cells, we hypothesized that SCA7 causes an accumulation of senescent cells over the course of disease. A 140-CAG repeat SCA7 mouse model was evaluated for signs of disease-s

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Mehnert, Jan, and Arne May. "Functional and structural alterations in the migraine cerebellum." Journal of Cerebral Blood Flow & Metabolism 39, no. 4 (2017): 730–39. http://dx.doi.org/10.1177/0271678x17722109.

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The cerebellum plays an important role in pain processing but its function in headache and specifically in migraine is not known. We therefore compared 54 migraineurs with pairwise matched healthy controls in a magnetic resonance imaging study on neuronal cerebellar activity in response to nociceptive trigeminal sensation and also investigated possible structural alterations. Headache frequency, disease duration, and the proximity to a migraine attack were used as co-factors. Migraine patients showed functional and structural alterations in the posterior part of the cerebellum, namely crus I a

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Villalobos-Rodríguez, Alejandro L. "Hydrocephalus and Dandy-Walker syndrome. Clinical case." American Journal of Medical and Clinical Research & Reviews 02, no. 12 (2023): 01–05. http://dx.doi.org/10.58372/2835-6276.1118.

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Introduction. Dandy-Walker syndrome (DWS) is a developmental abnormality characterized by dilated posterior fossa, cystic enlargement of the fourth ventricle, hypoplasia of cerebellar vermis, and its upward rotation. The affected person may suffer from psychomotor retardation, ataxia, apnea attacks, muscle weakness, occasional muscle spasm, seizures, nystagmus, and macrocephaly. However, half of the cases have average intelligence. Clinical Case. Male newborn at 36 weeks gestation obtained by cesarean section, with a history in the current pregnancy of poor prenatal control. During the fifth m

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Barletta, Valeria T., Elena Herranz, Costantina A. Treaba, et al. "Evidence of diffuse cerebellar neuroinflammation in multiple sclerosis by 11C-PBR28 MR-PET." Multiple Sclerosis Journal 26, no. 6 (2019): 668–78. http://dx.doi.org/10.1177/1352458519843048.

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Background: Activated microglia, which can be detected in vivo by 11C-PBR28 positron emission tomography (PET), represent a main component of MS pathology in the brain. Their role in the cerebellum is still unexplored, although cerebellar involvement in MS is frequent and accounts for disability progression. Objectives: We aimed at characterizing cerebellar neuroinflammation in MS patients compared to healthy subjects by combining 11C-PBR28 MRI-Positron Emission Tomography (MR-PET) with 7 Tesla (T) MRI and assessing its relationship with brain neuroinflammation and clinical outcome measures. M

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Ozel, Osman, Eugene Lai, Maya Ramy, et al. "Acute Autoimmune Encephalitis With Features of Bickerstaff Brainstem Encephalitis (BBE) and Two Abnormal Autoantibodies Presenting With Prominent Cerebellar Abnormality on MRI–A Case Report." Neurology 99, no. 23 Supplement 2 (2022): S58.2—S59. http://dx.doi.org/10.1212/01.wnl.0000903464.94171.d5.

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ObjectiveTo present an unusual cerebellar imaging finding of a patient with clinical features of BBEBackgroundBBE is characterized by progressive ataxia, ophthalmoplegia and impaired consciousness. Magnetic resonance imaging (MRI) of the brain is usually normal. However, rare T2 Flair changes have been reported. Scarcity of cerebellar findings on imaging led to the controversy of peripheral vs central etiology for the ataxia. Despite other modalities including positron emission tomography, magnetic resonance spectroscopy and molecular level evidence pointing towards involvement of the cerebell

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Chou, Denise K. H., and Firoze B. Jungalwala. "Sulfoglucuronyl Neolactoglycolipids in Adult Cerebellum: Specific Absence in Murine Mutants with Purkinje Cell Abnormality." Journal of Neurochemistry 50, no. 5 (1988): 1655–58. http://dx.doi.org/10.1111/j.1471-4159.1988.tb03056.x.

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Pan, Xiaoqi, Lanlan Zhu, Huiping Lu, Dun Wang, Qing Lu, and Hong Yan. "Melatonin Attenuates Oxidative Damage Induced by Acrylamide In Vitro and In Vivo." Oxidative Medicine and Cellular Longevity 2015 (2015): 1–12. http://dx.doi.org/10.1155/2015/703709.

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Acrylamide (ACR) has been classified as a neurotoxic agent in animals and humans. Melatonin (MT) has been shown to be potentially effective in preventing oxidative stress related neurodegenerative disorders. In this study, whether MT exerted a protective effect against ACR-induced oxidative damage was investigated. Results in cells showed that reactive oxygen species (ROS) and malondialdehyde (MDA) significantly increased after ACR treatment for 24 h. MT preconditioning or cotreatment with ACR reduced ROS and MDA products, whereas the inhibitory effect of MT on oxidant generation was attenuate

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Stanley, Jeffrey A. "In vivo Magnetic Resonance Spectroscopy and its Application to Neuropsychiatric Disorders." Canadian Journal of Psychiatry 47, no. 4 (2002): 315–26. http://dx.doi.org/10.1177/070674370204700402.

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In vivo magnetic resonance spectroscopy (MRS) is the only noninvasive imaging technique that can directly assess the living biochemistry in localized brain regions. In the past decade, spectroscopy studies have shown biochemical alterations in various neuropsychiatric disorders. These first-generation studies have, in most cases, been exploratory but have provided insightful biochemical information that has furthered our understanding of different brain disorders. This review provides a brief description of spectroscopy, followed by a literature review of key spectroscopy findings in schizophr

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Shomura, Keijiro, Katsuyoshi Miyashita, Seiya Kudo, Iku Nambu, and Yasuo Tohma. "Infratentorial cerebral proliferative angiopathy: A rare entity with high risk of hemorrhage." Surgical Neurology International 16 (May 30, 2025): 216. https://doi.org/10.25259/sni_207_2025.

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Background: Cerebral proliferative angiopathy (CPA) is a rare vascular disease characterized by nonfocal angiogenic activity. Numerous case reports have been published; however, despite there are a few reported cases of infratentorial CPA (or cerebellar proliferative angiopathy), no comprehensive review of this condition has been conducted. Case Description: We report two cases of infratentorial CPA, and both of them presented intracranial hemorrhage. The first case was a 48-year-old woman with an incidentally detected vascular abnormality in the cerebellum, which remained stable for 11 years

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Makomela, N. M., L. R. Zabudska, and O. V. Druzhinin. "Dandy-Walker syndrome." Radiation Diagnostics, Radiation Therapy 13, no. 3 (2022): 40–46. http://dx.doi.org/10.37336/2707-0700-2022-3-3.

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А mini-review and portfolio. Every year, the number of patients with congenital defects of the nervous system increases, which, on the one hand, may be related to the improvement of postnatal neuroimaging methods, and on the other hand, to a significant increase in the influence of adverse factors on brain development in the antenatal period of a child's life. Dandy-Walker syndrome (SDU) is an abnormality in the development of the cerebellum and its surrounding cerebrospinal fluid spaces; genetically determined disease. The syndrome was first described by Americans: neurosurgeon Walter Dandy (

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Ma, Lijiang, Elif Seda Selamet Tierney, Teresa Lee, Patricia Lanzano, and Wendy K. Chung. "Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies." Cardiology in the Young 22, no. 2 (2011): 194–201. http://dx.doi.org/10.1017/s1047951111001181.

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AbstractBackgroundHeterotaxy syndrome is caused by left–right asymmetry disturbances and is associated with abnormal lateralisation of the abdominal and thoracic organs. The heart is frequently involved and the severity of the abnormality usually determines the outcome.MethodsWe performed a direct sequence analysis of the coding sequence of genes including Zinc Finger Protein of the Cerebellum 3, Left–Right Determination Factor 2, Activin A Receptor Type IIB, and Cryptic in 47 patients with laterality defects and congenital cardiac disease.ResultsOf the 47 patients, 31 (66%) had atrioventricul

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International, Journal of Medical Science and Innovative Research (IJMSIR). "Joubert Syndrome: A Rare Entity and the Role of Radiology." International Journal of Medical Science and Innovative Research (IJMSIR) 9, no. 4 (2024): 11–15. https://doi.org/10.5281/zenodo.15422282.

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<strong>Abstract</strong> <strong>Introduction and Importance</strong>: Joubert syndrome (JS) is characterized by a distinct constellation of cerebellar and midbrain abnormalities that collectively produce the characteristic "molar tooth sign" on axial MRI scans. This rare genetic disorder affects an estimated 1 in 80,000 to 1 in 100,000 individuals. <strong>Case Presentation</strong> Clinical manifestations typically become evident shortly after birth and include hypotonia, episodic tachypnea, and apnea, often followed by developmental delays and speech apraxia. Associated anomalies may encom

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Nagahara, Yuri, Takashi Nakamae, Susumu Nishizawa, et al. "A tract-based spatial statistics study in anorexia nervosa: Abnormality in the fornix and the cerebellum." Progress in Neuro-Psychopharmacology and Biological Psychiatry 51 (June 2014): 72–77. http://dx.doi.org/10.1016/j.pnpbp.2014.01.009.

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Martinot, J. L., M. L. Paillère-Martinot, C. Loc'h, et al. "The Estimated Density of D2 Striatal Receptors in Schizophrenia." British Journal of Psychiatry 158, no. 3 (1991): 346–50. http://dx.doi.org/10.1192/bjp.158.3.346.

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The striatal D2 receptors of 19 untreated schizophrenics and 14 normal control subjects were investigated with PET and 76Br-bromolisuride. The ratio of radioactivity in the striatum to that in the cerebellum was taken as an index of the striatal D2 receptor density. There was no significant difference between the control and the schizophrenic groups, nor any difference between subgroups of patients defined by clinical type or course of illness, and no relationship between the striatum:cerebellum activity ratio and SANS or SAPS ratings of symptoms. Unlike in the controls, this ratio was not cor

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Nur-E-Jannat, Syeda, and Dewan Saifuddin Ahmed. "Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype." International Journal of Research in Medical Sciences 11, no. 7 (2023): 2668–74. http://dx.doi.org/10.18203/2320-6012.ijrms20232118.

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X-linked adrenoleukodystrophy (X-ALD) is a genetic disease with a variety of phenotypic expression. This is the first case report of X-AMN/ALD in two brothers in Bangladesh confirmed by raised VLCFA. Our index patient of 19 years presented on 2014 with adrenal insufficiency, after one year developed progressive spastic paraparesis along with cognitive declination and behavioral abnormality. His only brother was clinically asymptomatic at presentation with Addison’s disease and extensor planter reflexes. After three years of follow up, index patient became bed bound with slurred speech, urinary

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Shelly, Shahar, Thomas J. Kryzer, Lars Komorowski, et al. "Neurochondrin neurological autoimmunity." Neurology - Neuroimmunology Neuroinflammation 6, no. 6 (2019): e612. http://dx.doi.org/10.1212/nxi.0000000000000612.

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ObjectivesTo describe the neurologic spectrum and treatment outcomes for neurochondrin-IgG positive cases identified serologically in the Mayo Clinic Neuroimmunology Laboratory.MethodsArchived serum and CSF specimens previously scored positive for IgGs that stained mouse hippocampal tissue in a nonuniform synaptic pattern by immunofluorescence assay (89 among 616,025 screened, 1993–2019) were reevaluated. Antibody characterization experiments revealed specificity for neurochondrin, confirmed by recombinant protein assays.ResultsIgG in serum (9) or CSF (4) from 8 patients yielded identical neur

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Boni, Alessandra, Marco Ranalli, Giada Del Baldo, et al. "Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis." Diagnostics 11, no. 2 (2021): 254. http://dx.doi.org/10.3390/diagnostics11020254.

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Down syndrome (DS) is the most common chromosome abnormality with a unique cancer predisposition syndrome pattern: a higher risk to develop acute leukemia and a lower incidence of solid tumors. In particular, brain tumors are rarely reported in the DS population, and biological behavior and natural history are not well described and identified. We report a case of a 10-year-old child with DS who presented with a medulloblastoma (MB). Histological examination revealed a classic MB with focal anaplasia and the molecular profile showed the presence of a CTNNB1 variant associated with the wingless

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Alawadhi, A., C. Saint-Martin, G. Sebire, and M. Shevell. "P.101 Lateral medullary syndrome due to left vertebral artery occlusion in a boy post flexion neck injury." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S43. http://dx.doi.org/10.1017/cjn.2018.203.

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Background: Wallenberg’s syndrome (WS), or lateral medullary syndrome is rare in pediatrics, but is not uncommon in adults. It is characterized by neurological deficits due to an ischemic lesion in the lateral medulla. Methods: Case report Results: We describe a 17-year-old boy who developed WS in the context of hyperflexion injury to the neck while diving in shallow water with vertebral dissection as a presumed etiology. He had ‘crossed’ neurological deficits above and below the neck. His MRA showed intra and extracranial left vertebral artery occlusion and his MRI showed T2W/FLAIR signal abn

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Kitova, Tanya, Borislav Kitov, Nahed Ben Cheikh, and Soumeya Siala Gaigi. "Correlation of trisomy 13 with atelencephalic aprosencephaly." Pteridines 26, no. 1 (2015): 37–40. http://dx.doi.org/10.1515/pterid-2014-0016.

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AbstractA rare phenotype-genotype correlation of atelencephalic aprosencephaly in a fetus with free trisomy 13 karyotype, obtained by pregnancy termination for holoprosencephaly during the 26th gestational week, is presented. Lack of cerebral hemispheres and presence of rudimentary diencephalon, brain stem and hypoplastic cerebellum were revealed. Agenesis of the eyeball, of the optic nerve and of the pyramids of the medulla oblongata was established. Skull and face examination found craniostenosis, microcephaly, cella turcica agenesis, cyclopia, cleft palate and nose agenesis.The correlation

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Louis, Elan D., Dikoma C. Shungu, Steven Chan, Xiangling Mao, Eva C. Jurewicz, and Dryden Watner. "Metabolic abnormality in the cerebellum in patients with essential tremor: a proton magnetic resonance spectroscopic imaging study." Neuroscience Letters 333, no. 1 (2002): 17–20. http://dx.doi.org/10.1016/s0304-3940(02)00966-7.

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Tu, Sicong, Martin R. Turner, and Matthew C. Kiernan. "017 Widespread extra-motor abnormality is a prominent MRI signature of ALS: a cross-cohort study." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (2019): A7.1—A7. http://dx.doi.org/10.1136/jnnp-2019-anzan.17.

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IntroductionAmyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease characterised by motor dysfunction, but now recognised as a complex multi-system disorder. Neuroimaging studies’ indicate an expanding, though inconsistent, list of extra-motor neural involvement. The objective of the current study was to examine pattern of grey matter change across two clinically well matched patient cohorts to identify core neural changes underlying ALS.MethodsIndependent ALS and age-matched healthy control cohorts were compared from Oxford (ALS: 45; Control: 34) and Sydney (ALS: 45;

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Kara, Taylan. "Intracranial translucency as a sonographic marker of open spina bifida at first trimester." International Journal of Diagnostic Imaging 1, no. 2 (2014): 92. http://dx.doi.org/10.5430/ijdi.v1n2p92.

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Spina bifida is the one of the most common severe congenital abnormality of the central nervous system. Scalloping of the frontal bones called “the lemon sign” and caudal displacement of the cerebellum called “the banana sign” are known as cranial signs of open spina bifida on ultrasonography at the second trimester. Although these signs are useful methods in diagnosing of open spina bifida in the second trimester, detection rates of open spina bifida by using these signs in the first trimester are low. Intracranial translucency is a new sonographic landmark that may be valuable for the early

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Mendiratta, Pushkar, Samaresh Sahu, and Aneesh Mohimen. "Superficial siderosis presenting as hemiparesis in a paediatric patient with congenital Factor V deficiency – A case report." ASEAN Journal of Radiology 24, no. 2 (2023): 146–54. http://dx.doi.org/10.46475/aseanjr.v24i2.157.

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Superficial siderosis is a rare abnormality caused by deposition of hemosiderin in the subpial or subarachnoid spaces of the brain, cranial nerves, and spinal cord. It results from chronic repetitive bleeding in the subpial/subarachnoid space. Magnetic resonance imaging of the brain is the diagnostic modality of choice. We describe a rare case of an 18-month-old male, a known case of congenital Factor V deficiency, who presented with recurrent vomiting, irritability and right-sided hemiparesis. On Magnetic resonance imaging, there was hypointense coating of the surface of the brainstem and cer

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Townsend, Jeanne, Naomi Singer Harris, and Eric Courchesne. "Visual attention abnormalities in autism: Delayed orienting to location." Journal of the International Neuropsychological Society 2, no. 6 (1996): 541–50. http://dx.doi.org/10.1017/s1355617700001715.

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AbstractThese studies provide evidence for slowed spatial orienting of attention in autism. A group of well-defined adult autistic subjects and age-matched normal controls performed a traditional spatial cueing task in which attention-related response facilitation is indexed by speed of target detection. To address the concern that motor impairment may interfere with interpretation of response time measures in those with neurologic abnormality, we also used a new adaptation of the traditional task that depended on accuracy of response (target discrimination) rather than speed of response. This

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Liu, Pingping, Guixian Xiao, Kongliang He, et al. "Increased Accuracy of Emotion Recognition in Individuals with Autism-Like Traits after Five Days of Magnetic Stimulations." Neural Plasticity 2020 (July 4, 2020): 1–10. http://dx.doi.org/10.1155/2020/9857987.

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Individuals with autism-like traits (ALT) belong to a subclinical group with similar social deficits as autism spectrum disorders (ASD). Their main social deficits include atypical eye contact and difficulty in understanding facial expressions, both of which are associated with an abnormality of the right posterior superior temporal sulcus (rpSTS). It is still undetermined whether it is possible to improve the social function of ALT individuals through noninvasive neural modulation. To this end, we randomly assigned ALT individuals into the real (n=16) and sham (n=16) stimulation groups. All s

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Nicolson, Roderick I., Irene Daum, Markus M. Schugens, Angela J. Fawcett, and Adelheid Schulz. "Eyeblink conditioning indicates cerebellar abnormality in dyslexia." Experimental Brain Research 143, no. 1 (2002): 42–50. http://dx.doi.org/10.1007/s00221-001-0969-5.

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Mahmoud, Rola A., Robert Ungerer, Sean Gratton, and Michael J. Schwartzman. "Susac syndrome with a unique involvement of the thoracic spinal cord." BMJ Case Reports 15, no. 3 (2022): e247351. http://dx.doi.org/10.1136/bcr-2021-247351.

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A woman in her late 20s presented with headaches and subacute encephalopathy. MRIs showed multiple punctate subcortical and periventricular white matter hyperintensities with diffusion restriction, infratentorial lesions, leptomeningeal enhancement of the cervical spinal cord, brainstem and cerebellum and two areas of high-signal abnormality at T4 and T6 raising suspicion for multiple sclerosis or acute disseminated encephalomyelitis.Further studies and evolution of her symptoms during her hospital stay confirmed the clinical triad of encephalopathy, branch retinal artery occlusions and hearin

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Reddy, P. Amaresh, Amit Agrawal, V. Umamaheshwar Reddy, P. Radharani, and Sahith Reddy. "DYSPLASTIC WHITE MATTER LESIONS IN PATIENT WITH NEUROFIBROMATOSIS 1." Romanian Journal of Neurology 14, no. 2 (2015): 90–92. http://dx.doi.org/10.37897/rjn.2015.2.5.

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Dysplastic white matter lesions/unidentified bright objects /Foci of abnormal signal intensities (FASi’s) in brain MRI are the commonest intracranial abnormality with Neurofibromatosis 1 seen in approximately 70-75% of patients. They are usually multiple, small in size and are typically located in globus pallidus, brainstem, centrum semiovale, thalamus, internal capsule, corpus callosum, and cerebellum. Although clinically silent, patients can present with reduced attention span however neuropsychological functioning of these lesions depends upon the region involved. NF1 lesions should be kept

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McDonald, Colm, Ed Bullmore, Pak Sham, et al. "Regional volume deviations of brain structure in schizophrenia and psychotic bipolar disorder." British Journal of Psychiatry 186, no. 5 (2005): 369–77. http://dx.doi.org/10.1192/bjp.186.5.369.

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BackgroundIt is unclear whether schizophrenia and psychotic bipolar disorder are associated with similar deviations of brain morphometry.AimsTo assess volumetric abnormalities of grey and white matter throughout the entire brain in individuals with schizophrenia or with bipolar disorder compared with the same control group.MethodBrain scans were obtained by magnetic resonance imaging from 25 people with schizophrenia, 37 with bipolar disorder who had experienced psychotic symptoms and 52 healthy volunteers. Regional deviation in grey and white matter volume was assessed using computational mor

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Hussein, Rezhan, Melanie Fisher, and Ansaar T. Rai. "A case of neurosyphilis involving the cerebellum on magnetic resonance imaging (MRI) with resolution of the abnormality after treatment." International Journal of Infectious Diseases 12, no. 1 (2008): 103–5. http://dx.doi.org/10.1016/j.ijid.2007.03.011.

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Chiang, Cheng-Chun, Yu-Che Wu, Chiao-Hsin Lan, Kuan-Chieh Wang, Hsuan-Ching Tang, and Shin-Tsu Chang. "Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc−99m ECD SPECT Imaging." Tomography 9, no. 6 (2023): 2261–69. http://dx.doi.org/10.3390/tomography9060175.

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Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor signaling. This study investigates the central nervous system’s (CNS) involvement and its relation to pain insensitivity in HSAN4. We present a 15-year-old girl with HSAN4, displaying clinical signs suggestive of CNS impact, including spasticity and a positive Babinski’s sign. Using Technetium-99m ethyl cysteinate dimer single-photon emission computed tomography (Tc−99m ECD SPE

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Paul, Ashitha Judith, and Radha Kumar. "A rare case of ischaemic stroke following cervical spine manipulation in an adolescent girl." International Journal of Contemporary Pediatrics 7, no. 2 (2020): 445. http://dx.doi.org/10.18203/2349-3291.ijcp20200127.

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Stroke in children is associated with a multitude of risk factors compared to risk factors of adult stroke such as hypertension, diabetes or atherosclerosis. A 15-year adolescent girl presented with acute onset weakness involving right upper and lower limb. She complained of neck pain and fever 2 days before the onset of hemiparesis for which her parents took her to traditional healer who performed neck manipulation after which she developed vomiting, tingling numbness and weakness of right upper and lower limb. There was no history of preceding headache, ear discharge or any other contributor

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