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:https://doi.org/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

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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
Journal	Muscle & Nerve
Volume	17
Issue number	1
DOIs	https://doi.org/10.1002/mus.880170112
Publication status	Published - 1994

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https://doi.org/10.1002/mus.880170112

Cite this

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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",

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

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AU - Hoogendijk, J. E.

AU - de Visser, M.

AU - Bolhuis, P. A.

AU - Hart, A. A.

AU - Ongerboer de Visser, B. W.

PY - 1994

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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

U2 - https://doi.org/10.1002/mus.880170112

DO - https://doi.org/10.1002/mus.880170112

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SN - 0148-639X

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JO - Muscle & Nerve

JF - Muscle & Nerve

IS - 1

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