HMSN neuropathy with proxyimal dominancy in the lower extremities, urinary disturbance and paroxysmal dry cough

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J Neurol Sci. 2008 Jul 26

Hereditary motor and sensory neuropathy with proximal dominancy in

the lower extremities, urinary disturbance, and paroxysmal dry cough.

Miura S, Shibata H, Kida H, Noda K, Tomiyasu K, Yamamoto K, Iwaki A,

Ayabe M, Aizawa H, Taniwaki T, Fukumaki Y.

Division of Respirology, Neurology, and Rheumatology, Department of

Medicine, Japan.

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.