Open AccessA Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson’s Disease
Author(s) -
Dolores Vilas,
Rubén FernándezSantiago,
Elena Sánchez,
Luís Azcona,
Meritxell Santos-Montes,
Pilar Casquero,
Lucía Argandoña,
Eduardo Tolosa,
Coro Paisán-Ruı́z
Publication year - 2017
Publication title -
journal of parkinson's disease/journal of parkinson's disease (online)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.747
H-Index - 45
eISSN - 1877-718X
pISSN - 1877-7171
DOI - 10.3233/jpd-171146
Subject(s) - slowness , mutation , parkinson's disease , disease , genetics , biology , gene , medicine , pathology , physics , quantum mechanics
Common genetic variability in the ACMSD gene has been associated with increased risk for Parkinson's disease (PD) but ACMSD mutations in clinical cases of PD have so far not been reported.