Article
Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.
Neurology - 12 Feb 2002
Hedera P, Rainier S, Zhao X P, Schalling M, Lindblad K, Yuan Q-P, Ikeuchi T, Trobe J, Wald J J, Eldevik O P, Kluin K, Fink J K
Abstract excerpt
OBJECTIVE: To describe a kindred with a dominantly inherited neurologic disorder manifested either as uncomplicated spastic paraplegia or ataxia, spastic paraplegia, and mental retardation. METHODS: Neurologic examinations and molecular genetic analysis (exclusion of known SCA and HSP genes and loci; and trinucleotide repeat expansion detection [RED]) were performed in six affected and four unaffected subjects in...
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