Format

Send to

Choose Destination
J Neurol Sci. 2008 May 15;268(1-2):176-8. Epub 2007 Nov 26.

Parkin polymorphisms in progressive supranuclear palsy.

Author information

1
Banco De Tejidos Para Investigaciones Neurológicas, Madrid, Spain.

Abstract

Progressive supranuclear palsy (PSP) is a mostly sporadic disorder of unknown pathogenesis. Familial PSP have been reported related to mutations of microtubule-associated protein tau (MAPT). Mutations of the Park2 gene cause autosomal recessive parkinsonism with neuropathological findings consistent with neurofibrillary tangles and tau immunoreactive lesions. We analysed the presence of MAPT and Park2 mutations and polymorphisms in sporadic and familial PSP. No patients had mutations of Park2 or MAPT but there was genetic association for the polymorphism Val380Leu in sporadic and familial PSP. Leu380 is associated with less risk of familial or sporadic PSP.

PMID:
18022644
DOI:
10.1016/j.jns.2007.10.022
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center