Subject:
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DCN 1: Perception and Action DCN 2: Functional Neurogenomics DCN 3: Neuroinformatics IGMD 3: Genomic disorders and inherited multi-system disorders NCEBP 10: Human Movement & Fatigue NCMLS 6: Genetics and epigenetic pathways of disease UMCN 3.1: Neuromuscular development and genetic disorders UMCN 5.1: Genetic defects of metabolism NCEBP 10: Human Movement & Fatigue UMCN 5.1: Genetic defects of metabolism |
Organization:
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Neurology Human Genetics IQ Healthcare Otorhinolaryngology |
Former Organization:
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Centre for Quality of Care Research
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Abstract:
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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.
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