Article
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4.
Neurology - 20 May 2008
Orlacchio A, Patrono C, Gaudiello F, Rocchi C, Moschella V, Floris R, Bernardi G, Kawarai T
Abstract excerpt
OBJECTIVE: To perform a clinical and genetic study of two large Italian families (RM-36 and RM-51) showing the cardinal clinical features of Silver syndrome (SS), a rare dominantly inherited form of hereditary spastic paraplegia (HSP) complicated by amyotrophy of the small hand muscles. METHODS: Clinical assessment including neurophysiologic, neuropsychological, and neuroimaging evaluations. Genetic studies...
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