Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

J E Hoogendijk; M De Visser; P A Bolhuis; A A Hart; B W Ongerboer de Visser

doi:10.1002/mus.880170112

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

J E Hoogendijk, M De Visser, P A Bolhuis, A A Hart, B W Ongerboer de Visser

Neurology & Neurosurgery

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) were investigated to determine the clinical and electroneurographical characteristics of the HMSN I subtype that is defined by the presence of a DNA duplication on chromosome 17p. Motor nerve conduction velocity (MNCV) and, to a lesser extent, compound muscle action potential amplitude, were inversely related to clinical severity. Neither clinical severity nor MNCV were significantly related to age. These results suggest that the primary pathological process is not, or only slightly active after childhood.

Original language	English
Pages (from-to)	85-90
Number of pages	6
Journal	Muscle & Nerve
Volume	17
Issue number	1
DOIs	https://doi.org/10.1002/mus.880170112
Publication status	Published - Jan 1994

Keywords

Action Potentials
Adolescent
Adult
Aged
Charcot-Marie-Tooth Disease
Child
Chromosomes, Human, Pair 17
Humans
Middle Aged
Muscles
Mutation
Nervous System
Neural Conduction
Journal Article
Research Support, Non-U.S. Gov't

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title = "Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype",

abstract = "Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) were investigated to determine the clinical and electroneurographical characteristics of the HMSN I subtype that is defined by the presence of a DNA duplication on chromosome 17p. Motor nerve conduction velocity (MNCV) and, to a lesser extent, compound muscle action potential amplitude, were inversely related to clinical severity. Neither clinical severity nor MNCV were significantly related to age. These results suggest that the primary pathological process is not, or only slightly active after childhood.",

keywords = "Action Potentials, Adolescent, Adult, Aged, Charcot-Marie-Tooth Disease, Child, Chromosomes, Human, Pair 17, Humans, Middle Aged, Muscles, Mutation, Nervous System, Neural Conduction, Journal Article, Research Support, Non-U.S. Gov't",

author = "Hoogendijk, {J E} and {De Visser}, M and Bolhuis, {P A} and Hart, {A A} and {Ongerboer de Visser}, {B W}",

year = "1994",

month = jan,

doi = "10.1002/mus.880170112",

language = "English",

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pages = "85--90",

journal = "Muscle & Nerve",

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T1 - Hereditary motor and sensory neuropathy type I

T2 - clinical and neurographical features of the 17p duplication subtype

AU - Hoogendijk, J E

AU - De Visser, M

AU - Bolhuis, P A

AU - Hart, A A

AU - Ongerboer de Visser, B W

PY - 1994/1

Y1 - 1994/1

N2 - Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) were investigated to determine the clinical and electroneurographical characteristics of the HMSN I subtype that is defined by the presence of a DNA duplication on chromosome 17p. Motor nerve conduction velocity (MNCV) and, to a lesser extent, compound muscle action potential amplitude, were inversely related to clinical severity. Neither clinical severity nor MNCV were significantly related to age. These results suggest that the primary pathological process is not, or only slightly active after childhood.

AB - Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) were investigated to determine the clinical and electroneurographical characteristics of the HMSN I subtype that is defined by the presence of a DNA duplication on chromosome 17p. Motor nerve conduction velocity (MNCV) and, to a lesser extent, compound muscle action potential amplitude, were inversely related to clinical severity. Neither clinical severity nor MNCV were significantly related to age. These results suggest that the primary pathological process is not, or only slightly active after childhood.

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KW - Adolescent

KW - Adult

KW - Aged

KW - Charcot-Marie-Tooth Disease

KW - Child

KW - Chromosomes, Human, Pair 17

KW - Humans

KW - Middle Aged

KW - Muscles

KW - Mutation

KW - Nervous System

KW - Neural Conduction

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

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Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

Abstract

Keywords

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