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Готові списки джерел за темами / Hereditary motor sensory neuropathies / Статті в журналах

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Статті в журналах з теми "Hereditary motor sensory neuropathies"

Автор: Grafiati

Опубліковано: 3 червня 2025

Оновлено: 31 липня 2025

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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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7

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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9

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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10

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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11

Bertorini, Tulio, Pushpa Narayanaswami, and Hani Rashed. "Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies." Neurologist 10, no. 6 (2004): 327–37. http://dx.doi.org/10.1097/01.nrl.0000145596.38640.27.

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12

Benstead, Timothy J., and Ian A. Grant. "PROGRESS IN CLINICAL NEUROSCIENCES: Charcot-Marie-Tooth Disease and Related Inherited Peripheral Neuropathies." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 28, no. 3 (2001): 199–214. http://dx.doi.org/10.1017/s0317167100001347.

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The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This arti

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13

Murtazina, Aysylu F., Olga A. Shchagina, Sergey S. Nikitin, Elena L. Dadali, and Alexander V. Polyakov. "Current view on phenotypic and genetic features of autosomal recessive inherited peripheral neuropathies." Annals of Clinical and Experimental Neurology 13, no. 1 (2019): 55–69. https://doi.org/10.25692/acen.2019.1.7.

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Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies. IPNs can be inherited in autosomal dominant, autosomal recessive or X-linked manner. In clinical practice, isolated cases are more common, and the absence of genealogical data significantly complicates differential diagnosis. About 45% of HMSN cases lack genetic confirmation. For a number of autosomal recessive IPNs, peculiar clinical, electrophysiological and histological features can be distinguished, howev

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14

Sghirlanzoni, A., D. Pareyson, R. Marazzi, et al. "Homozygous hypertrophic hereditary motor and sensory neuropathies." Italian Journal of Neurological Sciences 15, no. 1 (1994): 5–14. http://dx.doi.org/10.1007/bf02343492.

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15

Auer-Grumbach, Michaela, Jan Senderek, and Sabine Rudnik-Schöneborn. "Hereditary Neuropathies: Update 2017." Neuropediatrics 48, no. 04 (2017): 282–93. http://dx.doi.org/10.1055/s-0037-1603518.

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AbstractHereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether

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16

Rudnik-Schöneborn, Sabine, Michaela Auer-Grumbach, and Jan Senderek. "Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020." Medizinische Genetik 32, no. 3 (2020): 207–19. http://dx.doi.org/10.1515/medgen-2020-2038.

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Abstract Inherited peripheral neuropathy is the most common hereditary neuromuscular disease with a prevalence of about 1:2,500. The most frequent form is Charcot-Marie-Tooth disease (CMT, or hereditary motor and sensory neuropathy [HMSN]). Other clinical entities are hereditary neuropathy with liability to pressure palsies (HNPP), distal hereditary motor neuropathies (dHMN), and hereditary sensory and autonomic neuropathies (HSAN). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether more than 100 ge

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17

Lupo, Vincenzo, Samuel I. Pascual-Pascual, Paula Sancho, et al. "Complexity of the Hereditary Motor and Sensory Neuropathies." Journal of Child Neurology 30, no. 11 (2015): 1544–48. http://dx.doi.org/10.1177/0883073815571049.

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18

Reilly, Mary M. "Classification of the hereditary motor and sensory neuropathies." Current Opinion in Neurology 13, no. 5 (2000): 561–64. http://dx.doi.org/10.1097/00019052-200010000-00009.

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19

Shy, Michael E., James Y. Garbern, and John Kamholz. "Hereditary motor and sensory neuropathies: a biological perspective." Lancet Neurology 1, no. 2 (2002): 110–18. http://dx.doi.org/10.1016/s1474-4422(02)00042-x.

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20

Bird, Thomas D. "Hereditary Motor-Sensory Neuropathies: Charcot-Marie-Tooth Syndrome." Neurologic Clinics 7, no. 1 (1989): 9–23. http://dx.doi.org/10.1016/s0733-8619(18)30825-9.

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21

Carter, Gregory T., John D. England, Thomas W. Hecht, Jay J. Han, Patrick Weydt, and Phillip F. Chance. "Electrodiagnostic evaluation of hereditary motor and sensory neuropathies." Physical Medicine and Rehabilitation Clinics of North America 14, no. 2 (2003): 347–63. http://dx.doi.org/10.1016/s1047-9651(02)00127-4.

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22

Pailthorpe, CA, and MK Benson. "Hip dysplasia in hereditary motor and sensory neuropathies." Journal of Bone and Joint Surgery. British volume 74-B, no. 4 (1992): 538–40. http://dx.doi.org/10.1302/0301-620x.74b4.1624512.

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23

Carroll, Antonia S., Joshua Burns, Garth Nicholson, Matthew C. Kiernan, and Steve Vucic. "Inherited Neuropathies." Seminars in Neurology 39, no. 05 (2019): 620–39. http://dx.doi.org/10.1055/s-0039-1693006.

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AbstractThe inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease. Identification of systemic involvement is necessary to distinguish the primary and secondary hereditary neuropathies to prevent the misdiagnosis of potentially treatable entities. Recent genetic and technological advances have dramatically improved our understanding of the under

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24

Suter, U., and G. J. Snipes. "Biology and Genetics of Hereditary Motor and Sensory Neuropathies." Annual Review of Neuroscience 18, no. 1 (1995): 45–75. http://dx.doi.org/10.1146/annurev.ne.18.030195.000401.

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25

Gjerstad, L., R. Nyberg-Hansen, and T. Ganes. "Visual evoked responses in hereditary motor and sensory neuropathies." Acta Neurologica Scandinavica 77, no. 3 (1988): 215–19. http://dx.doi.org/10.1111/j.1600-0404.1988.tb05897.x.

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26

Bennett, Craig L., and Phillip F. Chance. "Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies." Current Opinion in Neurology 14, no. 5 (2001): 621–27. http://dx.doi.org/10.1097/00019052-200110000-00011.

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27

Mostacciuolo, M. L., G. Micaglio, P. Fardin, and G. A. Danieli. "Genetic epidemiology of hereditary motor sensory neuropathies (type I)." American Journal of Medical Genetics 39, no. 4 (1991): 479–81. http://dx.doi.org/10.1002/ajmg.1320390422.

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28

Leblhuber, F., F. Reisecker, W. R. Mayr, and Alessandro Rossi. "Genetic linkage studies in hereditary motor and sensory neuropathies." Journal of Neurology 233, no. 5 (1986): 317–19. http://dx.doi.org/10.1007/bf00314168.

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29

Shchagina, O. A., O. P. Ryzhkova, A. L. Chukhrova, et al. "Diagnostic utility of exome sequencing for inherited peripheral neuropathies." Neuromuscular Diseases 10, no. 4 (2020): 12–26. http://dx.doi.org/10.17650/2222-8721-2020-10-4-12-26.

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Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor and sensory neuropathies in Russian patients and to evaluate the diagnostic effectiveness of using full-exome research methods to find the genetic cause of hereditary motor and sensory neuropathies.Materials and methods. The material for the study was DNA samples from 51 patients and their family members referred for whole exome sequencing to the DNA

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30

Beijer, Danique, Tine Deconinck, Jan L. De Bleecker, et al. "Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy." Brain 142, no. 9 (2019): 2605–16. http://dx.doi.org/10.1093/brain/awz216.

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Abstract Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons. We identified patients with heterozygous nonsense mutations in the αII-spectrin gene, SPTAN1, in three separate dominant hereditary motor neuropathy families via next-generation sequencing. Variable penetrance was noted for these mutations in two of three families, and phenotype severity differs greatly between patients. The mutant mRNA containing nonsense mutations

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31

Chimelli, Leila. "Peripheral neuropathies in childhood: a neuropathological approach." Arquivos de Neuro-Psiquiatria 54, no. 3 (1996): 510–18. http://dx.doi.org/10.1590/s0004-282x1996000300025.

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Peripheral neuropathies affect children more often than the young and middle age adults, but less frequently than the elderly. They differ from those in the adults because of the high incidence of hereditary neuropathies, including those associated with metabolic and degenerative disorders of the central nervous system; the low incidence of toxic neuropathies and those associated with systemic disorders; and a lower incidence of chronic acquired polineuropathies. Nerve biopsies are indicated if the diagnosis has not been made with clinical and electrophysiologic studies and other methods, and

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32

Gabreëls-Festen, A. A. W. M. "Autosomal recessive forms of hereditary motor and sensory neuropathies (HMSN)." Neuromuscular Disorders 7, no. 6-7 (1997): 465. http://dx.doi.org/10.1016/s0960-8966(97)87316-6.

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33

Shahrizaila, N. "S6: Motor and sensory conduction in inflammatory and hereditary neuropathies." Clinical Neurophysiology 125 (June 2014): S2. http://dx.doi.org/10.1016/s1388-2457(14)50006-5.

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34

Clays, D., H. M. Waddy, A. E. Harding, N. M. F. Murray, and P. K. Thomas. "Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: A magnetic stimulation study." Annals of Neurology 28, no. 1 (1990): 43–49. http://dx.doi.org/10.1002/ana.410280109.

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35

Murtazina, A. F., P. N. Tsabay, G. E. Rudenskaya, et al. "Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series." Neuromuscular Diseases 13, no. 2 (2023): 42–55. http://dx.doi.org/10.17650/2222-8721-2023-13-2-42-55.

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TRPV4‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are distinguished. There are Charcot–Marie–Tooth disease type 2C, distal hereditary motor neuropathy type 8 (DHMN8), scapulo‑peroneal spinal muscular atrophy (SPSMA). Here we report 3 families with DNMN8 and one family with SPSMA. In all cases, DNA‑analysis revealed single nucleotide variants in the TRPV4 gene previously reported as pathogenic. In 3 probands, a combination of signs of both motor and motor‑sensory neuropathies led to difficulties in the e

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36

Benquey, Thibaut, Emmanuelle Pion, Mireille Cossée, et al. "A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing." Genes 13, no. 2 (2022): 318. http://dx.doi.org/10.3390/genes13020318.

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Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot–Marie–Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) in this paper. With over 100 different CMT-associated genes involved and ongoing discoveries, an important interlaboratory diversity of gene panels exists at national and international levels. Here, we present the work of the French National Network for Rare Neuromuscular Diseases (FILNEMUS) genetic diagnosis section which coordinates the seven French diagnosis laboratories using NGS

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37

Gjerstad, L., R. Nyberg-Hansen, and T. Ganes. "PATTERN REVERSAL VISUAL EVOKED RESPONSES IN HEREDITARY MOTOR AND SENSORY NEUROPATHIES (HMSN)." Acta Neurologica Scandinavica 69, S98 (2009): 186–87. http://dx.doi.org/10.1111/j.1600-0404.1984.tb02430.x.

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38

Tazir, Meriem, Tarik Hamadouche, Sonia Nouioua, Stephane Mathis, and Jean-Michel Vallat. "Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update." Journal of the Neurological Sciences 347, no. 1-2 (2014): 14–22. http://dx.doi.org/10.1016/j.jns.2014.10.013.

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39

Sunil, Kumar Agarwalla* &. Nasreen Ali. "HEREDITARY MOTOR AND SENSORY NEUROPATHY (HMSN) DISEASE -IN TWO SIBLINGS." Indian Journal of Medical Research and Pharmaceutical Sciences 4, no. 12 (2017): 1–4. https://doi.org/10.5281/zenodo.1095885.

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Hereditary motor sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth Disease, is an inherited, progressive disease of the nerves with weakness and numbness more pronounced in the legs than the arms. Parts of the nerve cells deteriorate. The muscles in the hands and feet get weak because they no longer receive normal impulses from the nerves, and therefore are not being used adequately. Symptoms vary greatly. In addition to muscle weakness, there can be fatigue, pain, numbness, lack of balance, sight and hearing. There can be high arched feet, hammer toes, foot drop, and foot defo

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40

Quraishi Twinkle, Furial, Aminur Rahman, Khondker Mahmudul hakim, Ahammed Ali Shapnil, and Mahbubul Hakim Mishu. "A Young Man With Hereditary Motor And Sensory Neuropathy: A Rare Genetic Association." Bangladesh Journal of Medicine 35, no. 2 (2024): 101–5. http://dx.doi.org/10.3329/bjm.v35i2.72747.

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Hereditary motor and sensory neuropathies with early onset are uncommon conditions that include Dejerine-Sottas neuropathy, which begins in infancy, and congenital hypomyelinating neuropathy, which manifests in the early postnatal period. However, these two historically defined disease entities are only small parts of the clinical spectrum. It is well recognized that very early onset hereditary neuropathies are frequently caused by de novo dominant mutations in PMP22, MPZ, and EGR2. In addition, mutations in several other dominant and recessive genes for Charcot-Marie-Tooth disease may lead to

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41

Taghizadeh, Sara, Raheleh Vazehan, Maryam Beheshtian, et al. "Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum." Archives of Iranian Medicine 23, no. 7 (2020): 426–33. http://dx.doi.org/10.34172/aim.2020.39.

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Background: Inherited peripheral neuropathies (IPNs) are a group of neuropathies affecting peripheral motor and sensory neurons. Charcot-Marie-Tooth (CMT) disease is the most common disease in this group. With recent advances in next-generation sequencing (NGS) technologies, more than 100 genes have been implicated for different types of CMT and other clinically and genetically inherited neuropathies. There are also a number of genes where neuropathy is a major feature of the disease such as spinocerebellar ataxia (SCA) and hereditary spastic paraplegia (HSP). We aimed to determine the genetic

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42

Ajroud-Driss, Senda, Han-Xiang Deng, and Teepu Siddique. "Recent Advances in the Genetics of Hereditary Axonal Sensory-Motor Neuropathies Type 2." Current Neurology and Neuroscience Reports 11, no. 3 (2011): 262–73. http://dx.doi.org/10.1007/s11910-011-0185-z.

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43

Kang, Kyong-hwa, Ji Eun Han, Hyunjin Kim, et al. "PINK1 and Parkin Ameliorate the Loss of Motor Activity and Mitochondrial Dysfunction Induced by Peripheral Neuropathy-Associated HSPB8 Mutants in Drosophila Models." Biomedicines 11, no. 3 (2023): 832. http://dx.doi.org/10.3390/biomedicines11030832.

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Анотація:

Charcot–Marie–Tooth disease (CMT) is a group of inherited peripheral nerve disorders characterized by progressive muscle weakness and atrophy, sensory loss, foot deformities and steppage gait. Missense mutations in the gene encoding the small heat shock protein HSPB8 (HSP22) have been associated with hereditary neuropathies, including CMT. HSPB8 is a member of the small heat shock protein family sharing a highly conserved α-crystallin domain that is critical to its chaperone activity. In this study, we modeled HSPB8 mutant-induced neuropathies in Drosophila. The overexpression of human HSPB8 m

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44

Gilchrist, James M., and Sudeepta Dandapat. "Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities." HAND 15, no. 5 (2020): 599–607. http://dx.doi.org/10.1177/1558944719898801.

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Introduction: Carpal tunnel syndrome and ulnar neuropathy are such common maladies affecting the upper extremties that they often become the default diagnosis when patients complain of numbness, pain, or weakness of the hands. While often correct, there are a number of other conditions that can also cause sensory or motor loss of the hands, which should be considered when appropriate, as they can mimic upper extremity entrapment syndromes. Methods: In this review, we will discuss such mimics, including Charcot-Marie-Tooth disease, multifocal motor neuropathy, hereditary neuropathy with pressur

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ANANI, THIERRY, PHILIPPE SINDOU, LAURENCE RICHARD, MARTINE DIOT, and JEAN-MICHEL VALLAT. "Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory-Motor Neuropathies: 12 cases." Annals of the New York Academy of Sciences 883, no. 1 (1999): 186–95. http://dx.doi.org/10.1111/j.1749-6632.1999.tb08581.x.

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Nicholson, G. "Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review." Journal of Neurology, Neurosurgery & Psychiatry 58, no. 5 (1995): 523–25. http://dx.doi.org/10.1136/jnnp.58.5.523.

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Jerath, Nivedita U., and Michael E. Shy. "Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1852, no. 4 (2015): 667–78. http://dx.doi.org/10.1016/j.bbadis.2014.07.031.

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Kochański, Andrzej, Dagmara Kabzińska, Weronika Rzepnikowska, Katarzyna Binięda, and Artur Kiepura. "Perspektywy terapii w polineuropatiach genetycznie uwarunkowanych." Postępy Biochemii 64, no. 4 (2018): 288–99. http://dx.doi.org/10.18388/pb.2018_142.

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Анотація:

Polineuropatie genetycznie uwarunkowane (HMSN, ang. hereditary motor and sensory neuropathies) zwane również chorobami kręgu Charcot-Marie-Tooth (CMT) stanowią niezwykle heterogenną genetycznie (ponad 80 genów) grupę chorób obwodowego układu nerwowego człowieka. Istotą chorób kręgu CMT jest powolnie postępujący zanik mięśni dystalnych kończyn dolnych (podudzia) i górnych (przedramiona). Jak dotąd nie opracowano skutecznej metody leczenia CMT. W pracy przedstawiono obecny stan wiedzy dotyczący kliniki, patogenezy molekularnej i pierwszych prób terapeutycznych w CMT. Omówiono również możliwości

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Yuen, V. M. Y., B. F. M. Chow, and M. G. Irwin. "Severe Hypotension and Hepatic Dysfunction in a Patient Undergoing Scoliosis Surgery in the Prone Position." Anaesthesia and Intensive Care 33, no. 3 (2005): 393–99. http://dx.doi.org/10.1177/0310057x0503300317.

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Many patients with neuromuscular disorders develop progressive scoliosis and require corrective surgery. We present a patient with hereditary motor and sensory neuropathies who developed severe hypotension during corrective surgery for thoracolumbar scoliosis. The haemodynamic disturbance was probably secondary to thoracic hyperlordosis and the knee-chest position and was aggravated by surgical manipulation. This may be prevented by tailored preoperative evaluation of different patient prone position supports and frames in order to select that which causes least cardiovascular and respiratory

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Shah, Arjun G., Gaurav Chaudhary, Anuradha P. Mahto, Aamna Maniyar, Akash Chheda, and Kamlesh A. Jagiasi. "Novel reports of distal hereditary neuropathy due to mutations of SIGMAR 1 from India." International Journal of Advances in Medicine 11, no. 2 (2024): 126–29. http://dx.doi.org/10.18203/2349-3933.ijam20240364.

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Distal hereditary neuropathies (dHMN) are hereditary neuromuscular disorders characterized by predominant distal motor neuropathy, leading to muscle atrophy, with a striking preservation of the sensory nervous system. While there is occasional overlap with Charcot-Marie-tooth disease (CMT) and familial amyotrophic lateral sclerosis (fALS), these conditions typically represent distinct entities with better prognosis. Numerous gene defects are associated with dHMN, and on-going research continues to unveil novel mutations. Among these, the mutation in the sigma non-opioid intracellular receptor

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