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Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
Author(s) -
Chen Bin,
Zheng Riliang,
Luan Xinghua,
Zhang Wei,
Wang Zhaoxia,
Yuan Yun
Publication year - 2009
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2009.01011.x
Subject(s) - medicine , sural nerve , hereditary motor and sensory neuropathy , atrophy , nerve biopsy , pathological , compound heterozygosity , pathology , gastroenterology , anatomy , mutation , endocrinology , peripheral neuropathy , disease , genetics , gene , diabetes mellitus , biology
Seipinopathy is an autosomal dominant inherited distal motor neuropathy caused by Berardinelli‐Seip congenital lipodystrophy 2 ( BSCL2 ) gene mutations. We describe a Chinese family with seipinopathy in which nine patients from four successive generations were involved. The onset of age was from 13 to 40 years. Among them six were distal hereditary motor neuropathy type II with predominant weakness of lower extremities, while one of them was accompanied by pyramidal signs. The other three women were distal hereditary motor neuropathy type V with predominant atrophy of hands. Electrophysiological results in one patient demonstrated reduction of amplitude of compound muscle action potentials. Sural nerve biopsy showed loss of large myelinated fibers and fiber regeneration. Gene analysis revealed a heterozygous 263A→G mutation in BSCL2 gene resulting in amino acid substitutions in N88S. This report suggests that a different type of distal hereditary motor neuropathy could exist within one family carrying N88S mutations. The axonal degeneration of sensory nerves appeared also in the disease.