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Familial Parkinson's disease: Clinical and genetic analysis of four Basque families
Author(s) -
PaisànRuìz Coro,
Sàenz Amets,
de Munain Adolfo Lòpez,
Martì Itxaso,
Martìnez Gil Angel,
MartìMassò Josè F.,
PèrezTur Jordi
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20391
Subject(s) - mendelian inheritance , locus (genetics) , disease , pedigree chart , parkinson's disease , genetics , odds ratio , genetic linkage , degenerative disease , age of onset , lrrk2 , biology , medicine , gene
During the last few years several loci have been linked to Mendelian forms of Parkinson's disease (PD). To date, 5 causative genes of 10 identified loci are known, and they have provided enormous insight into the molecular pathways involved in this common neurodegenerative disorder. One of the recently identified loci, PARK8, causes autosomal dominant PD with, apparently, various degrees of abnormal deposition of α‐synuclein or τ in the neuronal cells in the pedigrees currently reported. We genetically characterized four Basque families and found evidence for linkage of autosomal dominant PD to the PARK8 locus, with a maximum 2‐point logarithm of odds score of 3.21 (θ = 0.00) for marker D12S345. The clinical features of these families are those of typical PD, including good response to levodopa therapy, rigidity, and akinesia, and a mean age of 55 years at disease onset. Ann Neurol 2005;57:365–372