Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough

Shiroh Miura, Hiroki Shibata, Hiroshi Kida, Kazuhito Noda, Katsuro Tomiyasu, Ken Yamamoto, Akiko Iwaki, Mitsuyoshi Ayabe, Hisamichi Aizawa, Takayuki Taniwaki, Yasuyuki Fukumaki

Research output: Contribution to journalArticle

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Abstract

We studied a four-generation pedigree of a Japanese family with hereditary neuropathy to elucidate the genetic basis of this disease. Twelve members of the family were enrolled in this study. The clinical features were neurogenic muscle weakness with proximal dominancy in the lower extremities, sensory involvement, areflexia, fine postural tremors, painful muscle cramps, elevated creatine kinase levels, recurrent paroxysmal dry cough, and neurogenic bladder. We performed a genome-wide search using genetic loci spaced at about 13 Mb intervals. Although nine chromosomes (1, 3, 4, 5, 6, 10, 17, 19, and 22) had at least one region in which the logarithm of odds (LOD) score was over 1.0, no loci fulfilled the criteria for significant evidence of linkage. Moreover, we analyzed an extra 14 markers on 3p12-q13 (the locus of hereditary motor and sensory neuropathy, proximal dominant form) and an extra five markers on 3p22-p24 (the locus of hereditary sensory neuropathy with chronic cough) and observed LOD scores of < - 3 on both 3p12-q13 and 3p22-p24. Mutation scanning of the entire coding regions of the MPZ and PMP22 genes revealed no mutations. We conclude that the disorder described here is a newly classified hereditary motor and sensory neuropathy with autosomal dominant inheritance.

Original languageEnglish
Pages (from-to)88-92
Number of pages5
JournalJournal of the Neurological Sciences
Volume273
Issue number1-2
DOIs
Publication statusPublished - Oct 15 2008
Externally publishedYes

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Hereditary Sensory and Motor Neuropathy
Cough
Lower Extremity
Hereditary Sensory and Autonomic Neuropathies
Muscle Cramp
Neurogenic Urinary Bladder
Mutation
Inborn Genetic Diseases
Chromosomes, Human, Pair 3
Genetic Loci
Chromosomes, Human, Pair 1
Muscle Weakness
Tremor
Pedigree
Creatine Kinase
Genome
Genes

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough. / Miura, Shiroh; Shibata, Hiroki; Kida, Hiroshi; Noda, Kazuhito; Tomiyasu, Katsuro; Yamamoto, Ken; Iwaki, Akiko; Ayabe, Mitsuyoshi; Aizawa, Hisamichi; Taniwaki, Takayuki; Fukumaki, Yasuyuki.

In: Journal of the Neurological Sciences, Vol. 273, No. 1-2, 15.10.2008, p. 88-92.

Research output: Contribution to journalArticle

Miura, S, Shibata, H, Kida, H, Noda, K, Tomiyasu, K, Yamamoto, K, Iwaki, A, Ayabe, M, Aizawa, H, Taniwaki, T & Fukumaki, Y 2008, 'Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough', Journal of the Neurological Sciences, vol. 273, no. 1-2, pp. 88-92. https://doi.org/10.1016/j.jns.2008.06.027
Miura, Shiroh ; Shibata, Hiroki ; Kida, Hiroshi ; Noda, Kazuhito ; Tomiyasu, Katsuro ; Yamamoto, Ken ; Iwaki, Akiko ; Ayabe, Mitsuyoshi ; Aizawa, Hisamichi ; Taniwaki, Takayuki ; Fukumaki, Yasuyuki. / Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough. In: Journal of the Neurological Sciences. 2008 ; Vol. 273, No. 1-2. pp. 88-92.
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