Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report.

ABSTRACT:

Background

A higher prevalence of parkinsonism was recently identified in southeastern Moravia (Czech Republic). Further research confirmed 3 large pedigrees with familial autosomal-dominant parkinsonism spanning 5 generations.

Methods

This case report concerns a patient belonging to one of these 3 pedigrees, in whom motor and oculomotor symptoms were accompanied by frontal-type dementia, who finally developed a clinical phenotype of progressive supranuclear palsy. Molecular genetic examinations were performed due to the positive family history.

Results

No previously described causal mutation was found. After filtering against common variants (minor allele frequency (MAF) < 0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were

SUBMITTER: Bartonikova T 

PROVIDER: S-EPMC5120934 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature