期刊
NEUROMUSCULAR DISORDERS
卷 16, 期 2, 页码 122-125出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2005.11.003
关键词
spastic paraparesis; Silver syndrome; hereditary motor neuropathy; BSCL2
Mutations in the BSCL2 gene have recently been identified in families with (SPG17-linked) Silver syndrome-type hereditary spastic paraparesis as well as in families with distal hereditary motor neuropathy (HMN). We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered. (C) 2005 Elsevier B.V. All rights reserved.
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