Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity
نویسندگان
چکیده
منابع مشابه
[History of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)].
We established a new disease autosomal dominant hereditary motor and sensory neuropathy with proximal dominant involvement (HMSNP) in 1997, in Okinawa, Japan. This disease is characterized by proximal dominant neurogenic atrophy with fasciculations, painful muscle cramp, obvious sensory nerve involvement, areflexia, high incidence of elevated creatine kinase levels, hyperlipidemia and hyperglyc...
متن کامل[Neuropathology of proximal-dominant hereditary motor and sensory neuropathy (HMSN-P)].
Neuropathology of a case of Shiga pedigree with proximal-dominant hereditary motor and sensory neuropathy (HMSN-P) is reported. In the spinal cord, marked atrophy of anterior and posterior roots was found. Histologically, severe neuronal loss and gliosis were evident in the spinal anterior horns. Bunina bodies and hyaline inclusions were not seen. Neuronal loss and gliosis were mild in the hypo...
متن کاملAutosomal recessive forms of hereditary motor and sensory neuropathy.
Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the mean age of onset was significantly ea...
متن کاملPalmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.
Autosomal dominant inheritance of a syndrome comprising palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy (HMSN) was observed in three generations of one family. Nail dystrophy affected the toe and fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystr...
متن کاملAutosomal dominant HMSN with proximal involvement: new Brazilian cases.
We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve b...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2007
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-007-0193-7