Two cases of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)
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 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...
متن کاملProximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.
IMPORTANCE Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) has been reported as a rare type of autosomal dominant adult-onset Charcot-Marie-Tooth disease. HMSN-P has been described only in Japanese descendants since 1997, and the causative gene has not been found. OBJECTIVES To identify the genetic cause of HMSN-P in a Korean family and determine the pathogenic mechan...
متن کاملCentral motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V).
Two generations of a family affected by hereditary motor and sensory neuropathy with pyramidal signs (HMSN V) were clinically and electrophysiologically examined. Apart from electroneurographic studies, the central motor conduction (CMC) to arm and leg muscles was assessed using magnetic transcranial motor cortex stimulation. Abnormal CMC was confined to the clinically affected members, with th...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2015
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.cn-000650