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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.
 
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.
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.
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.

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

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

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
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
Schöls L, Linnemann C, Globas C
Cerebellum 2008;7(2):198-203. doi: 10.1007/s12311-008-0024-1. PMID: 18418678
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
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

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
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
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
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
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

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

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
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
Schöls L, Linnemann C, Globas C
Cerebellum 2008;7(2):198-203. doi: 10.1007/s12311-008-0024-1. PMID: 18418678

Clinical prediction guides

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
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
Schöls L, Linnemann C, Globas C
Cerebellum 2008;7(2):198-203. doi: 10.1007/s12311-008-0024-1. PMID: 18418678
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
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

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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