Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.

ABSTRACT:

Objective

To delineate molecular and clinical characteristics of 3 families with PRNP P105L mutation, a variant of Gerstmann-Sträussler-Scheinker syndrome whose main motor symptoms were parkinsonism and/or involuntary movements.

Methods

The causative mutation was first determined in the affected patients of family 1 using whole-exome sequencing, and then mutational analysis was extended to families 2 and 3. The clinical features of the patients of these 3 families were summarized. Haplotype analysis was performed using high-density single nucleotide polymorphism array.

Results

The whole-exome sequencing revealed that the heterozygous mutation c.314C>T (p.P105L) in PRNP was the only known pathogenic mutation shared by the 3 patients of the family with autosomal dominan

SUBMITTER: Mano KK 

PROVIDER: S-EPMC4817902 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature