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Phenotypic correlations in FTDP-17.

Abstract：

:Frontotemporal dementias with parkinsonism linked to chromosome 17 (FTDP-17) are hereditary tauopathies affecting at least 50 known kindred worldwide. Most kindred present with severe behavioral or psychiatric manifestations progressing to dementia, while some kindred first manifest a parkinsonian-plus syndrome. Nine missense mutations, one deletion mutation, and two transition mutations not altering the encoded amino acid, have been described in or near the microtubule-binding domains within exons 9, 10, 12, and 13. In addition, five different intronic mutations have been reported in the 5' splice-site of the alternatively spliced exon 10. Missense mutations affecting constitutively expressed exons affect all six major tau isoforms and result in neurofibrillary tangles similar to those present in secondary tauopathies, such as Alzheimer's disease. In contrast, mutations that affect the alternatively spliced exon 10 or its 5' splice regulatory region alter the ratio of the tau isoforms incorporated into the tangles and result in filamentous inclusions resembling those seen in the primary tauopathies, such as progressive supranuclear palsy, corticobasal degeneration, and Pick's disease. The severity and heterogeneity of the clinicomorphologic phenotype may, in part, reflect the diversity in the primary molecular mechanisms of disease in FTDP-17.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Reed LA,Wszolek ZK,Hutton M

doi

10.1016/s0197-4580(00)00202-5

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

89-107

issue

1

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(00)00202-5

journal_volume

22

pub_type

杂志文章,评审

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