Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.

ABSTRACT:

Objectives

Genetic variant classification is a challenge in rare adult-onset disorders as in SCA-PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including protein modeling and provide for confirmed SCA-PRKCG a comprehensive phenotype description from a German multi-center cohort, including standardized 3D MR imaging.

Methods

This cross-sectional study prospectively obtained neurological, neuropsychological, and brain imaging data in 33 PRKCG variant carriers. Protein modeling was added as a classification criterion in variants of uncertain significance (VUS).

Results

Our sample included 25 cases confirmed as SCA-PRKCG (14 variants, ther

SUBMITTER: Schmitz-Hubsch T 

PROVIDER: S-EPMC8045942 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature