Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.

ABSTRACT:

Objective

Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) has received attention due to its potential response to coenzyme Q10 (CoQ10) supplementation; however, the response has so far been limited and variable.

Methods

We report a SCAR9 patient with severe hypophosphatemia who responded well to CoQ10 and phosphate repletion.

Results

A 70-year-old man (the offspring of a consanguineous marriage) presented with cerebellar ataxia and intense fatigue after exercise. Whole-exome sequencing identified a novel homozygous deletion mutation (NM_020247.5:c.1218_1219del) in COQ8A. We thus diagnosed him with SCAR9. Supplementation of CoQ10 alleviated his symptoms, with the Scale for the Assessment and Rating of Ataxia (SARA) dropping from 16 to 14. During the co

SUBMITTER: Haji S 

PROVIDER: S-EPMC10389171 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature