ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study.

ABSTRACT:

Importance

Reliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias.

Objective

To identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers.

Design, setting, and participants

This article presents baseline data from a cross-sectional natural history study conducted in Paris, France, reference centers for rare diseases from May 2020 to April 2021. Data were analyzed from September to December 2022. Fifteen adult ATXN7 pathogenic expansion carriers (9 with preataxia and 6 with ataxia) were included, all with a Scale for the Assessment and Rating of Ataxia (SARA) score of 15 of 40 or lower. Patients were recruited at the Paris Brain Institute, and all contacte

SUBMITTER: Nassisi M 

PROVIDER: S-EPMC10905377 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature