Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation.

ABSTRACT:

Objective

To describe the clinical features and brain imaging findings of autosomal dominant Parkinson disease (PD) associated with a recently reported mutation in SNCA.

Methods

A Finnish family with PD in 3 successive generations, in accordance with an autosomal dominant inheritance pattern, was identified. We examined 2 available members of the family, the female proband and her daughter (both with early-onset PD), clinically and using dopamine transporter imaging ([(123)I]FP-CIT SPECT). A possible causative genetic defect was investigated by molecular genetic analyses.

Results

A heterozygous c.158C>A (p.A53E) point mutation in SNCA was revealed in both patients. The patients presented with PD clinically characterized by severe bradykinesia but with very little trem

SUBMITTER: Martikainen MH 

PROVIDER: S-EPMC4811387 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature