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Готові списки джерел за темами / Hereditary motor sensory neuropathies

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Добірка наукової літератури з теми "Hereditary motor sensory neuropathies"

Автор: Grafiati

Опубліковано: 3 червня 2025

Оновлено: 31 липня 2025

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Статті в журналах з теми "Hereditary motor sensory neuropathies"

1

Barišić, N., and I. Lehman. "Hereditary polyneuropathies: molecular genetics and variability of clinical features." Paediatria Croatica 52, no. 3 (2008): 131–39. http://dx.doi.org/10.13112/pc.911.

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Hereditary peripheral neuropathies present a very heterogeneous group of peripheral nerves disorders both clinically and genetically. Neuropathies are classified according to the large peripheral nerves fiber affection in pure motor, sensory and autonomic or mixed motor, sensory and autonomic neuropathies. On the basis of their pathohistological and neurophysiological characteristics, inherited neuropathies are divided into demyelinating and axonal types. Charcot-Marie-Tooth’s disease (CMT) is one of the most common inherited neurological disorders which includes a very heterogeneous group of

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2

Millichap, J. Gordon. "Hereditary Motor and Sensory Neuropathies." Pediatric Neurology Briefs 4, no. 7 (1990): 53. http://dx.doi.org/10.15844/pedneurbriefs-4-7-5.

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3

Vance, J. M. "Hereditary motor and sensory neuropathies." Journal of Medical Genetics 28, no. 1 (1991): 1–5. http://dx.doi.org/10.1136/jmg.28.1.1.

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4

Miller, Geoffrey, and Robert C. Vannucci. "Hereditary Motor and Sensory Neuropathies." Pediatric Annals 18, no. 7 (1989): 428–31. http://dx.doi.org/10.3928/0090-4481-19890701-08.

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5

Gabreëls-Festen, A. A. W. M., F. J. M. Gabreëls, and F. G. I. Jennekens. "Hereditary motor and sensory neuropathies." Clinical Neurology and Neurosurgery 95, no. 2 (1993): 93–107. http://dx.doi.org/10.1016/0303-8467(93)90002-x.

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6

de Visser, M., J. E. Hoogendijk, A. A. W. M. Gabreèlis-Festen, and F. J. M. Gabreèls. "Hereditary motor and sensory neuropathies." Neuromuscular Disorders 6, no. 2 (1996): S21. http://dx.doi.org/10.1016/0960-8966(96)89011-0.

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Hayes, Leslie H., and Reza Sadjadi. "Hereditary Neuropathies." CONTINUUM: Lifelong Learning in Neurology 29, no. 5 (2023): 1514–37. http://dx.doi.org/10.1212/con.0000000000001339.

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ABSTRACT OBJECTIVE This article provides an overview of hereditary neuropathies, describes the different hereditary neuropathy subtypes and the clinical approach to differentiating between them, and summarizes their clinical management. LATEST DEVELOPMENTS Increasingly available clinical genetic testing has broadened the clinical spectrum of hereditary neuropathy subtypes and demonstrated a significant overlap of phenotypes associated with a single gene. New subtypes such as SORD-related neuropathy and CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia syndrome) have emerged. The opti

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8

Bamaga, Ahmed K., Anas S. Alyazidi, and Feryal K. Alali. "A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia." Brain Sciences 15, no. 4 (2025): 403. https://doi.org/10.3390/brainsci15040403.

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Inherited neuropathies are a heterogeneous group of disorders that affect the peripheral nervous system, leading to motor, sensory, and autonomic dysfunction. These disorders are classified into various subgroups, including hereditary sensory and motor neuropathies, distal hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, and more complex forms. Advances in genetic testing, particularly next-generation sequencing (NGS), have significantly improved the identification of these disorders. Emerging therapies, such as gene therapy, small molecule therapies, and antisense

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Rossi, L. N., J. Lütschg, C. Meier, and F. Vassella. "Hereditary Motor Sensory Neuropathies in Childhood." Developmental Medicine & Child Neurology 25, no. 1 (2008): 19–31. http://dx.doi.org/10.1111/j.1469-8749.1983.tb13718.x.

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Marinho, Jaqueline Luvisotto, José Luis Alonso Nieto, and Edenilson Eduardo Calore. "Dejerine-Sottas disease: a case report." Sao Paulo Medical Journal 121, no. 5 (2003): 207–9. http://dx.doi.org/10.1590/s1516-31802003000500006.

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CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet,

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Дисертації з теми "Hereditary motor sensory neuropathies"

1

Heckmann, Jeannine Mariette. "Familial neuropathies : a clinical and electrophysiological study at Groote Schuur Hospital." Master's thesis, University of Cape Town, 1994. http://hdl.handle.net/11427/26268.

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2

Lee, Ming-Jen. "Genetic analysis of the hereditary sensory, motor and autonomic neuropathies, including a rat model." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.401712.

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Howard, Heidi C. "Identification of the gene responsible for peripheral neuropathy associated with agenesis of the corpus callosum." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84259.

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Peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN or HMSN/ACC) is a severe polyneuropathy affecting both the peripheral nervous system and the central nervous system. It is transmitted as an autosomal recessive trait and is particularly frequent in the French Canadian population of Quebec (Canada). The disease was linked to chromosome 15 in 1996 by Dr. Rouleau's team.<br>We genotyped polymorphic markers in the ACCPN candidate region on chromosome 15 in over 67 patients and 200 control individuals. Observation of affected haplotypes confirmed the presence of a

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4

Ramos, Margot Guarieiro. "Avaliação neurologica e podiatrica nos pacientes com Charcot-Marie-Tooth." [s.n.], 2006. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313857.

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Orientador: Anamarli Nucci<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-07T09:41:22Z (GMT). No. of bitstreams: 1 Ramos_MargotGuarieiro_M.pdf: 985606 bytes, checksum: 434d1760ad15f7e85ae84d37db9d1523 (MD5) Previous issue date: 2006<br>Resumo: Charcot-Marie-Tooth (CMT) está entre as neuropatias hereditárias mais comuns, com prevalência mundial de 1:2.500 indivíduos. Constitui-se de doenças geneticamente heterogêneas, caracterizadas por atrofia e fraqueza distais dos membros inferiores, podendo estender-se pa

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5

Drew, Alexander Peter. "Genetics of distal hereditary motor neuropathies." Thesis, The University of Sydney, 2012. http://hdl.handle.net/2123/8652.

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The distal hereditary motor neuropathies (dHMN) are a clinically and genetically heterogeneous group of disorders that primarily affect motor neurons, without significant sensory involvement. Using genome wide linkage analysis in a large Australian family (CMT54), a form of dHMN was previously mapped by this laboratory, to a 12.98 Mb interval on chromosome 7q34-q36. The axonal neuropathy seen in this family was classified as dHMN1; with autosomal dominant inheritance, early but variable age of onset, and muscle weakness and wasting affecting the lower limbs. In this project, genetic linkage a

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Bansagi, Boglarka Krisztina. "Clinical and genetic characterisation of hereditary motor neuropathies." Thesis, University of Newcastle upon Tyne, 2017. http://hdl.handle.net/10443/3941.

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Inherited peripheral neuropathies or Charcot-Marie-Tooth disease (CMT) are common neuromuscular conditions, characterised by distal motor atrophy and weakness with variable range of sensory impairment and classified according to demyelinating (CMT1) or axonal (CMT2) pathology. The number of genes causing CMT has rapidly increased due to improved genetic testing technology, even though gene identification has remained challenging in some subgroups of CMT. Hereditary motor neuropathies (HMN) encompass heterogeneous groups of disorders caused by motor axon and neuron pathology. The distal heredit

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Rossor, A. M. "A clinical and in vitro study of the distal hereditary motor neuropathies." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1426967/.

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The hereditary motor neuropathies (HMN) encompass diseases of motor axons and neurons and range from the progressive, length dependent distal hereditary motor neuropathies (dHMN) to the developmental, non-progressive dominant congenital spinal muscular atrophies (DCSMA). In this Thesis I have investigated the pathomechanisms of HMN and undertaken a natural history study of patients with dHMN. In Chapter 2 I investigated the pathomechanism of dHMN due to homozygous mutations in the heat shock protein HSJ1, using primary motor neurons (MNs) from HSJ1 knockout mice. Using live cell confocal imagi

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Cutrupi, Anthony Nicholas. "Molecular Genetics of Distal Hereditary Motor Neuropathies: Modelling the DHMN1 Complex Insertion." Thesis, University of Sydney, 2020. https://hdl.handle.net/2123/22884.

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Distal hereditary motor neuropathies (dHMN) are a group of progressive diseases with length-dependent axonal degeneration primarily affecting the lower motor neurons of the peripheral nervous system. This causes denervation of distal muscles resulting in atrophy and paresis affecting the lower limbs leading to chronic disability. Using whole genome sequencing we recently identified a large chromosomal insertion within the DHMN1 locus on chromosome 7q34-q36.2 (DHMN1; OMIM %182960) in a large Australian family (F-54) (Drew et al. Hum Genet. 2016). The complex insertion DNA re-arrangement involve

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Svensson, Elisabeth. "Hand function in children and in persons with neurological disorders : aspects of movement control and evaluation of measurements." Doctoral thesis, Umeå : Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22042.

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Dati, Gabriele. "A transgenic mouse model of hereditary motor and sensory neuropathy." Thesis, Open University, 2009. http://oro.open.ac.uk/54643/.

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Congenital Hypomyelination (CH) is the most severe demyelinating form of Hereditary Motor and Sensory Neuropathies and manifests at birth in human. Some subtypes of CH are due to dommant mutations in the gene coding for PO glycoprotein, which fiinctions as a homophilic adhesion protein, responsible for compaction of opposing myelin lamellae. By homologous recombination in ES cells, we have generated a mouse containing a nonsense mutation m the intracellular portion of PO (Q215X) that, in the heterozygous state, is associated with CH neuropathy in humans.

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Книги з теми "Hereditary motor sensory neuropathies"

1

Cole, Jonathan. Pride and a daily marathon. MIT Press, 1995.

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2

Andrew, Northern, and CMT International UK, eds. Charcot-Marie-Tooth disease: A practical guide : also known as hereditary motor and sensory neuropathy and peroneal muscular atrophy. CMT International UK, 2000.

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3

Adlkofer, Kathrin. Animal Models for Hereditary Motor and Sensory Neuropathies. 1997.

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4

PRIDE AND A DAILY MARATHON. Duckworth, 1991.

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5

Pride and a daily marathon. Duckworth, 1991.

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6

Shaibani, Aziz. Distal Arm Weakness. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0015.

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Distal arm weakness may be caused by involvement of the intrinsic hand muscles (interossi, thenar and hypothenar muscles, lumbricals) or extrinsic hand muscles (long finger flexors and extensors). ALS is typical for the former type, and IBM is typical for the latter type. Incoordination of skilled finger movement due to cerebellar disease is associated with normal strength. Poor mobility due to joints pain and swelling should not be confused with muscle weakness. Mononeuropathies such as ulnar, radial, median, and AIN,lesions usually cause differential loss of function. Myasthenia sometimes ca

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Shaibani, Aziz. Distal Arm Weakness. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0015.

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Distal arm weakness may be caused by involvement of the intrinsic hand muscles (interossi, thenar and hypothenar muscles, lumbricals) or extrinsic hands muscles (long fingers flexors and extensors). Amyotrophic lateral sclerosis (ALS) is typical of the former type, and inclusion body myositis (IBM) is typical for the later type. Incoordination of skilled finger movement due to cerebellar disease is associated with normal strength. Poor mobility due to joint pain and swelling should not be confused with muscle weakness. Mononeuropathies such as ulnar, radial, median, and anterior interosseus ne

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Pitt, Matthew. Pathophysiological correlations in neuropathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0004.

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This chapter begins with an explanation of the pathophysiological correlations between the recorded changes and the underlying diagnosis which allow classification into demyelinating and axonal neuropathy. Demyelinating neuropathies are discussed first. The extensive and ever expanding literature in hereditary neuropathies is highlighted. The different variants of the acute inflammatory demyelinating polyneuropathy encountered in children are discussed along with the electrodiagnostic criteria for the diagnosis. Chronic inflammatory demyelinating polyneuropathy is then covered, both in its cli

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Popadich, Miriana, and Thomas J. Wilson. Peripheral Nerve Biopsy. Edited by Meghan E. Lark, Nasa Fujihara, and Kevin C. Chung. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190617127.003.0013.

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Nerve biopsy is an important part of the diagnostic armamentarium in the evaluation of a number of diseases, including vasculitis, some hereditary neuropathies, toxic and metabolic neuropathies, inflammatory demyelinating conditions (such as chronic inflammatory demyelinating polyneuropathy), and neoplastic and nonneoplastic infiltrative diseases, such as sarcoidosis, amyloidosis, neurolymphomatosis, and other metastatic tumor infiltration. Options for nerve biopsy include whole-nerve biopsy (e.g., biopsy of the sural nerve, superficial peroneal nerve, or superficial sensory radial nerve) or t

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News, PM Medical Health. 21st Century Complete Medical Guide to Charcot-Marie-Tooth Disease (CMT), Hereditary Motor and Sensory Neuropathy (HMSN), Peroneal Muscular Atrophy, Authoritative ... for Patients and Physicians (CD-ROM). Progressive Management, 2004.

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Частини книг з теми "Hereditary motor sensory neuropathies"

1

Strouch, Zaneta, and Ashraf S. Habib. "Hereditary Motor Sensory Neuropathies." In Consults in Obstetric Anesthesiology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-59680-8_78.

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Schröder, J. M. "Hereditary Motor and Sensory Neuropathies." In Pathology of Peripheral Nerves. Springer Berlin Heidelberg, 2001. http://dx.doi.org/10.1007/978-3-642-56808-4_7.

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3

Suter, U. "Molecular Biology of Hereditary Motor and Sensory Neuropathies." In Cell Biology and Pathology of Myelin. Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-5949-8_5.

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Puwanant, Araya, and David N. Herrmann. "Hereditary Motor Sensory Neuropathies (Charcot-Marie-Tooth Disease)." In Neuromuscular Disorders. Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781119973331.ch21.

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Khadilkar, Satish V., Rakhil S. Yadav, and Bhagyadhan A. Patel. "Hereditary Motor Sensory Neuropathies (HMSN)/Charcot-Marie-Tooth Disease (CMT)." In Neuromuscular Disorders. Springer Nature Singapore, 2024. https://doi.org/10.1007/978-981-97-9010-4_44.

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Goebel, H. H., U. E. Horn, and J. Bohl. "Pathomorphology of hereditary sensory neuropathies." In Sensory Neuropathies. Springer Vienna, 1995. http://dx.doi.org/10.1007/978-3-7091-6595-9_8.

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Burg, D., G. Burg, and D. Pongratz. "Hereditary sensory and autonomic neuropathies — classification and clinical characteristics." In Sensory Neuropathies. Springer Vienna, 1995. http://dx.doi.org/10.1007/978-3-7091-6595-9_7.

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De Jonghe, P., and G. KuhlenbÄumer. "Hereditary sensory and autonomic neuropathies (HSAN)." In Hereditary Peripheral Neuropathies. Steinkopff, 2005. http://dx.doi.org/10.1007/3-7985-1586-7_9.

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Chen, Harold. "Hereditary Sensory and Autonomic Neuropathies." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-6430-3_261-1.

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Chen, Harold. "Hereditary Sensory and Autonomic Neuropathies." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_261.

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Тези доповідей конференцій з теми "Hereditary motor sensory neuropathies"

1

Lemos, Ana Flavia Andrade, Maria Clara Foloni, Rebeca Aranha Barbosa Sousa, et al. "Multifocal motor neuropathy atypical presentation: case report." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.594.

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Case report: Woman, 34 years old, with paresis that started four years ago during pregnancy, predominantly distal in the lower limbs and progression to the upper limbs. No involvement of cranial nerves and sensitivity. Initially considered a diagnosis of Myasthenia Gravis and clinical gain was observed with the use of pyridostigmine. After a few months, the patient’s symptoms recurred with asymmetric flaccid tetraparesis, predominantly in the lower limbs, associated with global areflexia and oral immunosuppressive therapy was initiated, with improvement. Electroneuromyography with normal senso

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2

Krämer, Denise, Gentiana Wenzel, Bernhard Schick, and Dietmar Hecker. "Hereditary motor sensory neuropathy type Lom (synonyms: HMSN 4D, Charcot-Marie-Tooth 4D, CMT4D): A Case Report." In 94th Annual Meeting German Society of Oto-Rhino-Laryngology, Head and Neck Surgery e.V., Bonn. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0043-1767423.

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3

Spiesshoefer, Jens, Carolin Henke, Simon-Dominik Herkenrath, Winfried Randerath, Peter Young, and Matthias Boentert. "Diaphragm involvement in hereditary motor and sensory neuropathy type IA: insights from diaphragm ultrasound and phrenic nerve stimulation studies." In ERS/ESRS Sleep and Breathing Conference 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/23120541.sleepandbreathing-2019.p31.

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Vieira, Natália Barros Salgado, Sarah Joanny da Silva Pereira, and Ana Flávia Silva Castro. "Neurocognitive Implications in Children Undergoing Chemotherapy and Radiotherapy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.499.

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Background: Radiotherapy and chemotherapy drugs were essential for increasing the survival rates of pediatric cancer patients, but dysfunctions associated with treatment, mainly neurological and cognitive, are recorded and should be considered in deciding the therapeutic plan. Objectives: Analyze the current literature on the neurocognitive effects in children undergoing chemotherapy and radiation therapy. Methods: A bibliographic review was carried out in the MEDLINE / Pubmed and LILACS databases, using the terms “cognitive effects”, “chemotherapy”, “radiotherapy” and “child”, in Portuguese a

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Soares, Maria Carolina, Paulo Victor Sgobbi de Souza, Igor Braga Farias, et al. "Juvenile-onset amyotrophic lateral sclerosis due to homozygous COQ7 variants." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.402.

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Coenzyme Q10 (CoQ10) biosynthesis defects may lead to primary CoQ10 deficiency. This rare inherited metabolic disorder has been associated with a heterogeneous genetic basis, including rare pathogenic variants in the COQ7 gene. CoQ10 deficiency leads to dysfunction of mitochondrial energy, resulting in several distinct neuromuscular phenotypes, such as myopathy, axonal and demyelinating chronic polyneuropathy and hereditary motor neuronopathy. Herein, we present the first clinical association of COQ7 pathogenic variants with Juvenile Amyotrophic Lateral Sclerosis. A 38-year-old Brazilian man s

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Pinto, Wladimir Bocca Vieira de Rezende, Bruno de Mattos Lombardi Badia, Igor Braga Farias, et al. "Expanding the neurological and imaging phenotype of women with adult-onset X- linked Adrenoleukodystrophy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.019.

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Background: X-linked Adrenoleukodystrophy (X-ALD) represents a key inherited metabolic disorder in neurological practice, representing an important differential diagnosis in different neurological contexts. Symptomatic female patients have been scarcely studied in large cohorts. Objectives: Evaluation of clinical, laboratory and genetic findings from a Brazilian cohort of women with X-ALD. Methods, design and setting: We performed a retrospective observational study of clinical, biochemical, genetic, neuroimaging and neurophysiological aspects of 10 Brazilian female patients with X-linked Adre

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