Article
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.
Annals of neurology - 1 Nov 1999
Sperfeld A D, Collatz M B, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph A C
Abstract excerpt
Recently, mutations in the tau gene on chromosome 17 were found causative for autosomal dominantly inherited frontotemporal dementia and parkinsonism (FTDP-17). We describe a family carrying a missense mutation at nucleotide 1137 C --> T, resulting in the amino acid substitution P301S. Methods of investigations include clinical, electrophysiological, and imaging techniques. This kindred presents with a novel...
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