Ontology highlight
ABSTRACT:
SUBMITTER: Aerts MB
PROVIDER: S-EPMC4748314 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Aerts Marjolein B MB Weterman Marian A J MA Quadri Marialuisa M Schelhaas H Jurgen HJ Bloem Bastiaan R BR Esselink Rianne A RA Baas Frank F Bonifati Vincenzo V van de Warrenburg Bart P BP
Annals of clinical and translational neurology 20151222 2
LRSAM1 mutations have been found in recessive and dominant forms of Charcot-Marie-Tooth disease. Within one generation of the original Dutch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have developed Parkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late-onset parkinsonism is part of the LRSAM1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous ...[more]