帕金森病
失智症
错义突变
突变
遗传学
痴呆
神经科学
τ蛋白
癫痫
医学
生物
疾病
基因
病理
阿尔茨海默病
作者
Anne D. Sperfeld,Michael B. Collatz,Hartmut Baier,Markus Palmbach,Alexander Storch,Johannes Schwarz,Klaus Tatsch,Sven N. Reske,Marijke Joosse,Peter Heutink,Albert C. Ludolph
标识
DOI:10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k
摘要
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 phenotype characterized by an early onset of rapidly progressive frontotemporal dementia and parkinsonism in combination with epileptic seizures. We define the dopaminergic deficits as being predominantly presynaptic by the use of single-photon emission computed tomography with a dopamine transporter ligand. The association of this early-onset phenotype with P301S mutation is not entirely consistent with current criteria for the diagnosis of frontotemporal dementias and may encourage the search for tau mutations in diseases similar but not identical to FTDP-17. Also, the change from proline to serine suggests that this mutation might contribute to tau hyperphosphorylation.
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