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Journal articles on the topic 'Neurogenetic syndrome'

Author: Grafiati

Published: 10 December 2022

Last updated: 31 July 2025

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1

Harrop, Clare, Aaron R. Dallman, Luc Lecavalier, James W. Bodfish, and Brian A. Boyd. "Behavioral Inflexibility Across Two Neurogenetic Conditions: Down Syndrome and Fragile X Syndrome." American Journal on Intellectual and Developmental Disabilities 126, no. 5 (2021): 409–20. http://dx.doi.org/10.1352/1944-7558-126.5.409.

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Abstract Behavioral inflexibility (BI) has been highlighted to occur across genetic and neurodevelopmental disorders. This study characterized BI in two common neurogenetic conditions: Fragile X syndrome (FXS) and Down syndrome (DS). Caregivers of children with FXS (N = 56; with ASD = 28; FXS only = 28) and DS (N = 146) completed the Behavioral Inflexibility Scale (BIS) via an online survey. Total BIS scores were higher in FXS+ASD than both FXS only and DS (p &lt;.001). Most endorsed items were similar across the three groups, but scores were higher in the FXS+ASD group. In all groups, BI

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Duis, Jessica. "The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome." American Journal on Intellectual and Developmental Disabilities 127, no. 2 (2022): 95–98. http://dx.doi.org/10.1352/1944-7558-127.2.95.

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Abstract Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in

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Siniša, Franjić. "Angelman Syndrome is a Rare Neurogenetic Disorder." World Journal of Health and Medicine 3, no. 1 (2025): 09–14. https://doi.org/10.5281/zenodo.14917033.

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<strong>Abstract</strong> Angelman syndrome is a genetic disorder that causes formative delays and neurological issues – challenges with discourse, adjust and strolling, and in some cases, epileptic seizures. It is caused by a transformation in chromosome 15 acquired from the mother. It is named after Dr. Harry Angelman, a British pediatrician who to begin with depicted the syndrome in 1965. Angelman syndrome is ordinarily not found until guardians start to take note formative delays when the child is between 6 and 12 months old.   <strong>Keywords:</strong> AS, Genes, Imbalances, B

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Coppus, Antonia M. W. "Neurogenetic Syndrome: Behavioral Issues and Their Treatment." Journal of Policy and Practice in Intellectual Disabilities 8, no. 2 (2011): 139–40. http://dx.doi.org/10.1111/j.1741-1130.2011.00299.x.

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5

Fussiger, Helena, José Luiz Pedroso, and Jonas Alex Morales Saute. "Diagnostic reasoning in neurogenetics: a general approach." Arquivos de Neuro-Psiquiatria 80, no. 09 (2022): 944–52. http://dx.doi.org/10.1055/s-0042-1755275.

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AbstractEstablishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists and medical geneticists to solve this difficult task. The aim of the present review is to propose a general method for diagnostic reasoning in neurogenetics, with the definition of the main neurological syndrome and its associated topographical diagnosis, followed by the identification of major and secondary neurological syndromes, extraneu

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Buiting, Karin, Charles Williams, and Bernhard Horsthemke. "Angelman syndrome — insights into a rare neurogenetic disorder." Nature Reviews Neurology 12, no. 10 (2016): 584–93. http://dx.doi.org/10.1038/nrneurol.2016.133.

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7

Walter, E., P. K. Mazaika, and A. L. Reiss. "Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome." Neuroscience 164, no. 1 (2009): 257–71. http://dx.doi.org/10.1016/j.neuroscience.2009.04.033.

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8

Andrews, Sara M., Anita A. Panjwani, Sarah Nelson Potter, Lisa R. Hamrick, Anne C. Wheeler, and Bridgette L. Kelleher. "Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions." American Journal on Intellectual and Developmental Disabilities 129, no. 3 (2024): 175–90. http://dx.doi.org/10.1352/1944-7558-129.3.175.

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Abstract Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4–8-year-olds with PWS (n = 17), Angelman syndrome (AS; n = 22), Williams syndrome (WS; n = 25), or low-risk controls (LRC; n = 35). All NGC groups were significantly elevated in HQ Total and Behavior scores compared to LRC. Only AS and WS were significantly elevated in the Drive domain, and only PWS in the Severity domain. After controlling for externalizing behavior, HQ Total scores

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9

Andelman‐Gur, Michal M., Richard J. Leventer, Mohammad Hujirat, et al. "Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?" American Journal of Medical Genetics Part A 182, no. 10 (2020): 2207–13. http://dx.doi.org/10.1002/ajmg.a.61795.

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10

Zampatti, Stefania, Juliette Farro, Cristina Peconi, et al. "AI-Powered Neurogenetics: Supporting Patient’s Evaluation with Chatbot." Genes 16, no. 1 (2024): 29. https://doi.org/10.3390/genes16010029.

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Background/Objectives: Artificial intelligence and large language models like ChatGPT and Google’s Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini’s potential utility in assisting clinicians during the first evaluation of patients with suspected neurogenetic disorders. Methods: By analyzing the model’s performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a

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11

Komissarova, O. A., O. A. Milovanova, G. G. Avakyan, and S. V. Bugriy. "Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases." Epilepsy and paroxysmal conditions 12, no. 1 (2020): 51–58. http://dx.doi.org/10.17749/2077-8333.2020.12.1.51-58.

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Aim. To consolidate literature data and to demonstrate rare hereditary neurogenetic syndromes with various neuropsychiatric manifestations and a corpus callosum (CC) structurally reduced in size.Material and methods. Full text data from scholarly journals were used for the review. Mental and neurological disorders were studied in two examined patients with neurogenetic syndromes. A brain MRI showed that it was accompanied with CC hypoplasia. We conducted comprehensive analysis of anamnestic data as well as medical genetic, neurological, psychopathological, pathopsychological, laboratory, and i

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Gorchkhanova, Z. K., E. A. Nikolaeva, A. M. Pivovarova, S. V. Bochenkov, and E. D. Belousova. "Difficulties in the differential diagnosis of Angelman’s syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 67, no. 6 (2023): 113–22. http://dx.doi.org/10.21508/1027-4065-2022-67-6-113-122.

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Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcephaly and a characteristic facial phenotype with a unique behavior in the form of frequent laughter. The combination of microcephaly, epilepsy, speechlessness and mental retardation poses a problem for differential diagnosis with many genetic diseases presenting with similar symptoms. Epileptic encephalopathy due to CDKL5 gene mutation and Rett syndrome

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Gipson, Tanjala T., and Michael V. Johnston. "Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders." Neural Plasticity 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/486402.

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Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1) and fragile X syndrome (FXS), and phosphatase and tensin homolog hamartoma syndromes (PTHS), which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling.Methods. Pubmed and Clinicaltrials.gov were searched using specific search strategies.Results/Conclusions. Although traditionally thought of as ir

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Handa, Samira, Zineb El Azime, Hayat Aynaou, Houda Salhi, and Hanan El Ouahabi. "NON-CARDIAC DIGEORGE SYNDROME IN AN ADOLESCENT GIRL WITH EPILEPSY (A CASE REPORT)." International Journal of Advanced Research 11, no. 08 (2023): 859–64. http://dx.doi.org/10.21474/ijar01/17462.

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22q11.2 deletion syndrome is a fairly common neurogenetic syndrome, presenting with a wide range of clinical. It can manifest as facial dysmorphia, congenital heart defects, thymic hypoplasia responsible for a predominantly cellular immune deficiency, parathyroid and thyroid abnormalities, speech delay, growth retardation and neuropsychological disorders. We report the case of a patient with this deletion presenting with severe hypocalcaemic crises complicated by neurological impairment without cardiac or immune involvement.

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Espay, Alberto J., Danielle M. Andrade, Richard A. Wennberg, and Anthony E. Lang. "Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation." Epileptic Disorders 7, no. 3 (2005): 227–30. http://dx.doi.org/10.1684/j.1950-6945.2005.tb00126.x.

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Angelman syndrome is a neurogenetic disorder resulting in refractory epilepsy and profound psychomotor retardation in its most prevalent form, caused by deletion of maternal chromosome 15q11‐13. We report the case of a 29‐year‐old, mentally retarded man with unusual electroencephalographic changes during periods of atypical absence status epilepticus, a previously unreported manifestation of the usually milder, drug‐responsive epilepsy associated with Angelman syndrome due to the UBE3A mutation. [Published with video sequences]

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Shatalin, A. V., E. V. Mukhina, A. S. Kotov, and M. G. Amirkhanyan. "Modern neurogenetic representations of MELAS syndrome. Clinical cases (the lecture)." Russian Journal of Child Neurology 14, no. 4 (2020): 26–31. http://dx.doi.org/10.17650/2073-8803-2019-14-4-26-31.

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This lecture with a description of clinical cases presents information on such a mitochondrial disease from the group of hereditary metabolic diseases, like MELAS syndrome (OMIM: 540000). The main manifestations of this progressive disease are stroke-like episodes and a specific form of encephalopathy, including epileptic seizures with the presence of a phenomenon of "ragged red fibers" and early dementia. Clinical cases, given in this lecture, supplement the piggy bank of genetically verified mitochondrial diseases leading to the development of polymorphic neurological disorders and character

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Mattie, Laura J., and Pamela A. Hadley. "Characterizing the Richness of Maternal Input for Word Learning in Neurogenetic Disorders." Seminars in Speech and Language 42, no. 04 (2021): 301–17. http://dx.doi.org/10.1055/s-0041-1730914.

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AbstractPromoting language abilities, including early word learning, in children with neurogenetic disorders with associated language disorders, such as Down syndrome (DS) and fragile X syndrome (FXS), is a main concern for caregivers and clinicians. For typically developing children, the quality and quantity of maternal language input and maternal gesture use contributes to child word learning, and a similar relation is likely present in DS and FXS. However, few studies have examined the combined effect of maternal language input and maternal gesture use on child word learning. We present a m

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Dennen, Catherine A., Kenneth Blum, Abdalla Bowirrat, et al. "Neurogenetic and Epigenetic Aspects of Cannabinoids." Epigenomes 6, no. 3 (2022): 27. http://dx.doi.org/10.3390/epigenomes6030027.

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Cannabis is one of the most commonly used and abused illicit drugs in the world today. The United States (US) currently has the highest annual prevalence rate of cannabis consumption in the world, 17.9% in individuals aged 12 or older, and it is on the rise. With increasing cannabis use comes the potential for an increase in abuse, and according to the Substance Abuse and Mental Health Services Administration (SAMHSA), approximately 5.1% of Americans had Cannabis Use Disorder (CUD) in 2020. Research has shown that genetics and epigenetics play a significant role in cannabis use and CUD. In fac

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Musin, M. F., and A. F. Yusupova. "Algesic syndrome in the epigastric region in extraabdominal pathology, its place in intensive diagnosis." Kazan medical journal 78, no. 5 (1997): 332–35. http://dx.doi.org/10.17816/kazmj83563.

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As many as 98 patients with extraabdominal pathology having pain in epigastric region as a basic symptom are examined. Among them 10 patients with neurogenetic abdominalgic syndrome and 8 patients with masked depression received due attention. The careful clinical examination before instrumentation, comprehensive anamnesis, algesic syndrome peculiarities are basic in the diagnosis, because the mechanism of its origin becomes clear at this stage. The use of uneffective, nonresultant investigation methods is excluded, the time and material expense for examination are reduced.

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Byiers, Breanne J., Alyssa M. Merbler, Chantel C. Burkitt, and Frank J. Symons. "Challenges in Using Parent-Reported Bed and Wake Times for Actigraphy Scoring in Rett-Related Syndromes." American Journal on Intellectual and Developmental Disabilities 130, no. 1 (2024): 1–12. https://doi.org/10.1352/1944-7558-130.1.1.

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Abstract Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times from paper sleep diaries and actigraphy event mark button presses in a sample of 38 individuals with Rett and related syndromes (aged 2–36 years, mean = 13.1) across two 14-day collection time points. Rates of missingness and discrepancy betwee

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LEVITIN, D. J. "Musical Behavior in a Neurogenetic Developmental Disorder: Evidence from Williams Syndrome." Annals of the New York Academy of Sciences 1060, no. 1 (2005): 325–34. http://dx.doi.org/10.1196/annals.1360.027.

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22

De Molfetta, Greice Andreotti, Temis Maria Felix, Mariluce Riegel, Victor Evangelista de Faria Ferraz, and João Monteiro de Pina Neto. "A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect." Arquivos de Neuro-Psiquiatria 60, no. 4 (2002): 1011–14. http://dx.doi.org/10.1590/s0004-282x2002000600024.

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Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we rein

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Zarchi, O., A. Diamond, R. Weinberger, et al. "A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes." European Psychiatry 29, no. 4 (2014): 203–10. http://dx.doi.org/10.1016/j.eurpsy.2013.07.001.

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AbstractPurpose:22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are common neurogenetic microdeletion syndromes. The aim of the present study was to compare the neuropsychiatric and neurocognitive phenotypes of 22q11.2DS and WS.Methods:Forty-five individuals with 22q11.2DS, 24 with WS, 22 with idiopathic developmental disability (DD) and 22 typically developing (TD) controls were compared for the rates of psychiatric disorders as well as cognitive executive and visuospatial functions.Results:We found that while anxiety, mood and disruptive disorders had an equally high prevale

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Walter, E., P. K. Mazaika, and A. L. Reiss. "Corrigendum to “Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and Velocardiofacial syndrome” [Neuroscience 164 (2009) 257–271]." Neuroscience 165, no. 3 (2010): 1011. http://dx.doi.org/10.1016/j.neuroscience.2009.11.014.

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Jiang, Chun, Ningren Cui, Weiwei Zhong, Christopher M. Johnson, and Yang Wu. "Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder." Respiratory Physiology & Neurobiology 245 (November 2017): 45–52. http://dx.doi.org/10.1016/j.resp.2016.11.011.

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Feybesse, Cyrille, Sylvie Chokron, and Sylvie Tordjman. "Melatonin in Neurodevelopmental Disorders: A Critical Literature Review." Antioxidants 12, no. 11 (2023): 2017. http://dx.doi.org/10.3390/antiox12112017.

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The article presents a review of the relationships between melatonin and neurodevelopmental disorders. First, the antioxidant properties of melatonin and its physiological effects are considered to understand better the role of melatonin in typical and atypical neurodevelopment. Then, several neurodevelopmental disorders occurring during infancy, such as autism spectrum disorder or neurogenetic disorders associated with autism (including Smith–Magenis syndrome, Angelman syndrome, Rett’s syndrome, Tuberous sclerosis, or Williams–Beuren syndrome) and neurodevelopmental disorders occurring later

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Sánchez, Javier, Ana Peciña, Olga Alonso-Luengo, et al. "Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13." Case Reports in Genetics 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/517091.

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Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY). The main features in KS are sm

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Battaglia, Agatino. "The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder." Brain and Development 27, no. 5 (2005): 365–69. http://dx.doi.org/10.1016/j.braindev.2004.08.006.

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Aguilera, Cinthia, Elisabeth Gabau, Ariadna Ramirez-Mallafré, et al. "New genes involved in Angelman syndrome-like: Expanding the genetic spectrum." PLOS ONE 16, no. 10 (2021): e0258766. http://dx.doi.org/10.1371/journal.pone.0258766.

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Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10–15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopment

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Pina-Neto, João M. de, Victor Evangelista F. Ferraz, Greice Andreotti de Molfetta, Jess Buxton, Sarah Richards, and Sue Malcolm. "Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes." Arquivos de Neuro-Psiquiatria 55, no. 2 (1997): 199–208. http://dx.doi.org/10.1590/s0004-282x1997000200006.

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The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region. The predominant genetic defects in PW are 15q 11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy. In contrast, maternal deletions and paternal chromosome 15 uniparental disomy are associated with a different neurogenetic disorder, the AS. In both disorders, these mutations are associated with parent-of-origin specific methylation at several 15q 11-13 loci. We studied 5 patients suspect of PWS and 4 p

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Good, Jean-Marc, Isis Atallah, Mayte Castro Jimenez, et al. "NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges." Genes 12, no. 5 (2021): 695. http://dx.doi.org/10.3390/genes12050695.

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The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing t

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Siegert, Sandy, Gabriel T. Mindler, Christof Brücke, et al. "Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family." Genes 12, no. 11 (2021): 1648. http://dx.doi.org/10.3390/genes12111648.

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Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormali

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Blum, Kenneth, Marlene Oscar-Berman, Zsolt Demetrovics, Debmalya Barh, and Mark S. Gold. "Genetic Addiction Risk Score (GARS): Molecular Neurogenetic Evidence for Predisposition to Reward Deficiency Syndrome (RDS)." Molecular Neurobiology 50, no. 3 (2014): 765–96. http://dx.doi.org/10.1007/s12035-014-8726-5.

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Rondal, Jean A. "Language in mental retardation: Individual and syndromic differences, and neurogenetic variation 1Based on a keynote presentation at the Third European Conference on Psychological Theory and Research in Mental Retardation, Geneva, September 1st, 2000." Swiss Journal of Psychology 60, no. 3 (2001): 161–78. http://dx.doi.org/10.1024//1421-0185.60.3.161.

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Predominantly non-etiological conceptions have dominated the field of mental retardation (MR) since the discovery of the genetic etiology of Down syndrome (DS) in the sixties. However, contemporary approaches are becoming more etiologically oriented. Important differences across MR syndromes of genetic origin are being documented, particularly in the cognition and language domains, differences not explicable in terms of psychometric level, motivation, or other dimensions. This paper highlights the major difficulties observed in the oral language development of individuals with genetic syndrome

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Lorena, Joga-Elvira, and Palma-Robleda Sandra. "Description of Neuropsychological Profile in Patients with 22q11 Syndrome." Genes 14, no. 7 (2023): 1347. http://dx.doi.org/10.3390/genes14071347.

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Background: 22q11 deletion syndrome (SD22Q11) is a neurogenetic condition that is associated with a high risk of neurodevelopmental disorders and intellectual disability. People with SD22Q11, both children and adults, often experience significant difficulties in social interactions, as well as neurocognitive deficits, and have elevated rates of autism spectrum disorder (ASD). Despite this, the relationship between basic cognitive processes and cognitive ability in this population has not been well investigated. Methods: the main objective of the present research is to describe the neurocogniti

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Jesse, Sarah, Jan Philipp Delling, Michael Schön, Tobias M. Boeckers, Albert Ludolph, and Makbule Senel. "Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression—A Case Report." International Journal of Molecular Sciences 22, no. 5 (2021): 2311. http://dx.doi.org/10.3390/ijms22052311.

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Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and ankyrin repeat-containing protein, a gene that encodes for proteins of the postsynaptic density (PSD) of excitatory synapses. This PSD is relevant for the induction and plasticity of spine and synapse formation as a basis for learning processes and long-term potentiation. Individuals with PMcD present with intellectual disability, muscular hypotonia, a

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Schmitt, Lauren M., and Elizabeth G. Smith. "Navigating Neuroimaging Challenges in Rare Neurogenetic Disorders: A Case Example From Girls With Fragile X Syndrome." Biological Psychiatry 97, no. 5 (2025): 418–19. https://doi.org/10.1016/j.biopsych.2024.12.005.

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S K, Meghana, Girish Kumar SV, and Meghana V. "Exploring Integrative Ayurveda in the Supportive Management of a Child with Angelman Syndrome - A Case Study." Journal of Ayurveda and Integrated Medical Sciences 10, no. 5 (2025): 281–87. https://doi.org/10.21760/jaims.10.5.44.

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Angelman Syndrome (AS) is a rare neurogenetic disorder caused by the pathological lack of expression of the UBE3A gene on the maternal chromosome, combined with the physiological genomic imprinting or silencing of the paternal chromosome in neurons. It clinically presents with Intellectual disability, hypotonia, inappropriate laughter, poor speech etc,. The estimated prevalence is 1 in 16,000 live births. Though it presents significant challenges to affected children and their families, early intervention and proper care can improve the quality of life. A case of 5 year old female child with k

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Kõks, Sulev. "Genomics of Wolfram Syndrome 1 (WFS1)." Biomolecules 13, no. 9 (2023): 1346. http://dx.doi.org/10.3390/biom13091346.

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Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD. Nearly 15,000–30,000 people are affected by WFS worldwide, and, on average, patients suffering from WFS die at 30 years of age, usually from central respiratory failure caused by massive brain atrophy. The more prevalent of the two kinds of WFS is WFS1, which is a monogenic disease and caused by the loss of the WFS1 gene, whereas WFS2, which is more uncomm

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Wilson, Kathleen, Ethan Whitman, Allysa Warling, et al. "A Framework for Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Findings in XYY Syndrome." Biological Psychiatry 87, no. 9 (2020): S355. http://dx.doi.org/10.1016/j.biopsych.2020.02.910.

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Kummerfeld, Delf-Magnus, Carsten A. Raabe, Juergen Brosius, Dingding Mo, Boris V. Skryabin, and Timofey S. Rozhdestvensky. "A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research." International Journal of Molecular Sciences 22, no. 7 (2021): 3613. http://dx.doi.org/10.3390/ijms22073613.

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Prader-Willi syndrome (PWS) is a neurogenetic multifactorial disorder caused by the deletion or inactivation of paternally imprinted genes on human chromosome 15q11-q13. The affected homologous locus is on mouse chromosome 7C. The positional conservation and organization of genes including the imprinting pattern between mice and men implies similar physiological functions of this locus. Therefore, considerable efforts to recreate the pathogenesis of PWS have been accomplished in mouse models. We provide a summary of different mouse models that were generated for the analysis of PWS and discuss

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Nikitina, Е. А., A. V. Medvedeva, G. А. Zakharov, and Е. V. Savvateeva-Popova. "Williams Syndrome As a Model for Elucidation of the Pathway Genes - the Brain - Cognitive Functions: Genetics and Epigenetics." Acta Naturae 6, no. 1 (2014): 9–22. http://dx.doi.org/10.32607/20758251-2014-6-1-9-22.

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Genomic diseases or syndromes with multiple manifestations arise spontaneously and unpredictably as a result of contiguous deletions and duplications generated by unequal recombination in chromosomal regions with a specific architecture. The Williams syndrome is believed to be one of the most attractive models for linking genes, the brain, behavior and cognitive functions. It is a neurogenetic disorder resulting from a 1.5 Mb deletion at 7q11.23 which covers more than 20 genes; the hemizigosity of these genes leads to multiple manifestations, with the behavioral ones comprising three distinct

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Koriath, C., J. Kenny, G. Adamson, et al. "Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series." Molecular Psychiatry 25, no. 12 (2018): 3399–412. http://dx.doi.org/10.1038/s41380-018-0224-0.

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AbstractNext-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there are few reports about their use in clinical practice. Which patients would most profit from testing, and information on the likelihood of discovery of a causal variant in a clinical syndrome, are conspicuously absent from the literature, mostly for a lack of large-scale studies. We applied a validated NGS dementia panel to 3241 patients with dementia and healthy aged controls; 13,152 variants were classified by likelihood of pathogenicity. We

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Debbané, M., M. Van der Linden, B. Glaser, and S. Eliez. "Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS)." Psychological Medicine 38, no. 6 (2007): 811–20. http://dx.doi.org/10.1017/s003329170700222x.

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BackgroundSource monitoring consists in identifying the origin of mental events. Recent research suggests that confusions over internally generated mental events may represent a cognitive marker for increased proneness to psychotic symptoms and disorders. We have examined source monitoring for actions in adolescents with the 22q11.2 deletion syndrome (22q11DS), a neurogenetic disease associated with high rates of schizophrenia during adulthood, and expected to observe source monitoring deficits in comparison to IQ-matched and typically developing controls.MethodEighteen adolescents with 22q11D

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Crespi, Bernard, Silven Read, Iiro Salminen, and Peter Hurd. "A genetic locus for paranoia." Biology Letters 14, no. 1 (2018): 20170694. http://dx.doi.org/10.1098/rsbl.2017.0694.

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The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader–Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN , mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorp

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Gur, R. E., A. S. Bassett, D. M. McDonald-McGinn, et al. "A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium." Molecular Psychiatry 22, no. 12 (2017): 1664–72. http://dx.doi.org/10.1038/mp.2017.161.

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Blum, Kenneth, Thomas McLaughlin, Abdalla Bowirrat, et al. "Reward Deficiency Syndrome (RDS) Surprisingly Is Evolutionary and Found Everywhere: Is It “Blowin’ in the Wind”?" Journal of Personalized Medicine 12, no. 2 (2022): 321. http://dx.doi.org/10.3390/jpm12020321.

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Reward Deficiency Syndrome (RDS) encompasses many mental health disorders, including a wide range of addictions and compulsive and impulsive behaviors. Described as an octopus of behavioral dysfunction, RDS refers to abnormal behavior caused by a breakdown of the cascade of reward in neurotransmission due to genetic and epigenetic influences. The resultant reward neurotransmission deficiencies interfere with the pleasure derived from satisfying powerful human physiological drives. Epigenetic repair may be possible with precision gene-guided therapy using formulations of KB220, a nutraceutical

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Liu, Shu, Kaihui Zhang, Fengling Song, et al. "Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking." Cytogenetic and Genome Research 152, no. 1 (2017): 1–8. http://dx.doi.org/10.1159/000477520.

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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD

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Almomen, MM, KA Martens, A. Hanson, L. Korngut, and G. pfeffer. "P.071 Novel mutations in SPG7 identified from patients with late-onset spasticity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S35. http://dx.doi.org/10.1017/cjn.2018.173.

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Background: Hereditary spastic paraplegia (HSP) is a group of genetic diseases that cause progressive degeneration of the corticospinal tract. Historically, this disease was divided into two types:the classic subtype, with leg weakness and hypertonic bladder, and the complicated subtype, with features such as cerebellar ataxia or optic atrophy.Mutations in SPG7 (encoding paraplegin) leads to complicated HSP causing cerebellar ataxia, progressive external ophthalmoplegia in addition to the classical symptoms. AFG3L2 is a binding partner of paraplegin and mutations in AFG3L2 cause a similar synd

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Blum, Kenneth, Marcelo Febo, Rajendra Badgaiyan, et al. "Common Neurogenetic Diagnosis and Meso-Limbic Manipulation of Hypodopaminergic Function in Reward Deficiency Syndrome (RDS): Changing the Recovery Landscape." Current Neuropharmacology 15, no. 1 (2016): 184–94. http://dx.doi.org/10.2174/1570159x13666160512150918.

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