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Autosomal dominant slowed nerve conduction velocity(SNCV)

MedGen UID:
330829
•Concept ID:
C1842357
•
Disease or Syndrome
Synonym: Slowed Nerve Conduction Velocity, Autosomal Dominant
SNOMED CT: Autosomal dominant slowed nerve conduction velocity (764854006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): ARHGEF10 (8p23.3)
 
Monarch Initiative: MONDO:0011998
OMIM®: 608236
Orphanet: ORPHA140481

Definition

A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. [from SNOMEDCT_US]

Clinical features

From HPO
Peripheral demyelination
MedGen UID:
451074
•Concept ID:
C0878575
•
Pathologic Function
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
See: Feature record | Search on this feature
Onion bulb formation
MedGen UID:
376237
•Concept ID:
C1847906
•
Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
See: Feature record | Search on this feature
Decreased nerve conduction velocity
MedGen UID:
347509
•Concept ID:
C1857640
•
Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant slowed nerve conduction velocity
Follow this link to review classifications for Autosomal dominant slowed nerve conduction velocity in Orphanet.

Professional guidelines

PubMed

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.
Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V
Neurology 2000 Nov 28;55(10):1552-7. doi: 10.1212/wnl.55.10.1552. PMID: 11094113

Recent clinical studies

Etiology

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Cao W, Huang S, Zhao H, Li Z, Zhu X, Liu L, Zhang R
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2023 Oct 28;48(10):1572-1582. doi: 10.11817/j.issn.1672-7347.2023.230116. PMID: 38432886Free PMC Article
Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis.
Escolano-Lozano F, Barreiros AP, Birklein F, Geber C
Brain Behav 2018 Jan;8(1):e00889. Epub 2017 Dec 19 doi: 10.1002/brb3.889. PMID: 29568686Free PMC Article
Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings.
Schöls L, Linnemann C, Globas C
Cerebellum 2008;7(2):198-203. doi: 10.1007/s12311-008-0024-1. PMID: 18418678
Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.
Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V
Neurology 2000 Nov 28;55(10):1552-7. doi: 10.1212/wnl.55.10.1552. PMID: 11094113
Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families.
Combarros O, Calleja J, Figols J, Cabello A, Berciano J
J Neurol Sci 1983 Oct;61(2):181-91. doi: 10.1016/0022-510x(83)90004-7. PMID: 6315895

Diagnosis

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Cao W, Huang S, Zhao H, Li Z, Zhu X, Liu L, Zhang R
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2023 Oct 28;48(10):1572-1582. doi: 10.11817/j.issn.1672-7347.2023.230116. PMID: 38432886Free PMC Article
Demyelination in hereditary sensory neuropathy type-1C.
Saba S, Chen Y, Maddipati KR, Hackett M, Hu B, Li J
Ann Clin Transl Neurol 2020 Sep;7(9):1502-1512. Epub 2020 Jul 30 doi: 10.1002/acn3.51110. PMID: 32730653Free PMC Article
Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis.
Escolano-Lozano F, Barreiros AP, Birklein F, Geber C
Brain Behav 2018 Jan;8(1):e00889. Epub 2017 Dec 19 doi: 10.1002/brb3.889. PMID: 29568686Free PMC Article
Hyperekplexia in neonates.
Praveen V, Patole SK, Whitehall JS
Postgrad Med J 2001 Sep;77(911):570-2. doi: 10.1136/pmj.77.911.570. PMID: 11524514Free PMC Article
Hereditary pressure-sensitive neuropathy.
Debruyne J, Dehaene I, Martin JJ
J Neurol Sci 1980 Sep;47(3):385-94. doi: 10.1016/0022-510x(80)90091-x. PMID: 6932477

Therapy

Hereditary pressure-sensitive neuropathy.
Debruyne J, Dehaene I, Martin JJ
J Neurol Sci 1980 Sep;47(3):385-94. doi: 10.1016/0022-510x(80)90091-x. PMID: 6932477

Prognosis

Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis.
Escolano-Lozano F, Barreiros AP, Birklein F, Geber C
Brain Behav 2018 Jan;8(1):e00889. Epub 2017 Dec 19 doi: 10.1002/brb3.889. PMID: 29568686Free PMC Article
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM
Brain 2011 Feb;134(Pt 2):608-17. Epub 2011 Jan 19 doi: 10.1093/brain/awq374. PMID: 21252112
Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings.
Schöls L, Linnemann C, Globas C
Cerebellum 2008;7(2):198-203. doi: 10.1007/s12311-008-0024-1. PMID: 18418678

Clinical prediction guides

Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis.
Escolano-Lozano F, Barreiros AP, Birklein F, Geber C
Brain Behav 2018 Jan;8(1):e00889. Epub 2017 Dec 19 doi: 10.1002/brb3.889. PMID: 29568686Free PMC Article
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM
Brain 2011 Feb;134(Pt 2):608-17. Epub 2011 Jan 19 doi: 10.1093/brain/awq374. PMID: 21252112
Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings.
Schöls L, Linnemann C, Globas C
Cerebellum 2008;7(2):198-203. doi: 10.1007/s12311-008-0024-1. PMID: 18418678
Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.
Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN
Exp Mol Med 2004 Feb 29;36(1):28-35. doi: 10.1038/emm.2004.4. PMID: 15031668
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
Windpassinger C, Wagner K, Petek E, Fischer R, Auer-Grumbach M
Hum Genet 2003 Dec;114(1):99-109. Epub 2003 Sep 16 doi: 10.1007/s00439-003-1021-6. PMID: 13680364

Recent systematic reviews

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A
J Neurol 2017 Aug;264(8):1655-1677. Epub 2017 Mar 31 doi: 10.1007/s00415-017-8474-3. PMID: 28364294

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    Related information

    • ClinVar
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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