Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

ABSTRACT:

Background and objective

Biallelic mutations in the COA7 gene have been associated with spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3), and a notable clinical diversity has been observed. We aim to identify the genetic and phenotypic spectrum of COA7-related disorders.

Methods

We conducted comprehensive genetic analyses on the COA7 gene within a large group of Japanese patients clinically diagnosed with inherited peripheral neuropathy or cerebellar ataxia.

Results

In addition to our original report, which involved four patients until 2018, we identified biallelic variants of the COA7 gene in another three unrelated patients, and the variants were c.17A > G (p.D6G), c.115C > T (p.R39W), and c.449G > A (p.C150Y; novel). Patient 1 presented with an infantil

SUBMITTER: Higuchi Y 

PROVIDER: S-EPMC10769979 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature