A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation

Neurology

Volumn 55, Issue 8, 2000, Pages 1224-1227

  Yasuda, M ^a   Yokoyama, K ^b   Nakayasu, T ^c   Nishimura, Y ^d   Matsui, M ^a   Yokoyama, T ^c   Miyoshi, K ^a   Tanaka, C ^a  

^a Institute for Aging Brain and Cognitive Disorders   (Japan)

^b Hyogo Rehabilitation Center   (Japan)

^c Department of Neurology   (Japan)

^d NISHI KOBE MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DISEASE COURSE; EXON; FRONTOTEMPORAL DEMENTIA; HUMAN; JAPAN; MALE; MISSENSE MUTATION; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034711149     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.8.1224     Document Type: Article

References (10)

1. Tau mutations cause frontotemporal dementias
2. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
3. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
4. A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration
5. Tau pathology in a family with dementia and a P301L mutation in tau
6. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau
7. Tau is a candidate gene for chromosome 17 frontotemporal dementia
8. Rapidly progressive autosomal dominant parkinsonism and dementia with pallidoponto-nigral degeneration
9. FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation
10. From genotype to phenotype: A clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation