# Genetic aspects of ataxias in a cohort of Turkish patients

## TL;DR

This study examines the genetic causes of ataxia in Turkish patients, highlighting the role of whole exome sequencing in identifying underlying mutations.

## Contribution

The study provides insights into the genetic etiology of ataxia in a Turkish cohort, emphasizing the prevalence of autosomal recessive and dominant inheritance patterns.

## Key findings

- Autosomal recessive inheritance was detected in 80.5% of patients, while autosomal dominant inheritance was found in 19.5%.
- Five patients had unique genetic variants in genes such as MCM3AP, AGTPBP1, GDAP2, and SH3TC2.
- Abnormal cerebellum and polyneuropathy were observed in MRI and EMG tests, respectively.

## Abstract

Ataxia is one of the clinical findings of the movement disorder disease group. Although there are many underlying etiological reasons, genetic etiology has an increasing significance thanks to the recently developing technology. The aim of this study is to present the variants detected in WES analysis excluding non-genetic causes, in patients with ataxia.

Thirty-six patients who were referred to us with findings of ataxia and diagnosed through WES or other molecular genetic analysis methods were included in our study. At the same time, information such as the onset time of the complaints, consanguinity status between parents, and the presence of relatives with similar symptoms were evaluated. If available, the patient’s biochemical and radiological test results were presented.

Thirty-six patients were diagnosed through WES or CES. The rate of detected autosomal recessive inheritance disease was 80.5%, while that of autosomal dominant inheritance disease was 19.5%. Abnormal cerebellum was detected on brain MRI images in 26 patients, while polyneuropathy was detected on EMG in eleven of them. While the majority of the patients were compatible with similar cases reported in the literature, five patients had different/additional features (variants in MCM3AP, AGTPBP1, GDAP2, and SH3TC2 genes).

The diagnosis of ataxia patients with unknown etiology is made possible thanks to these clues. Consideration of a genetic approach is recommended in patients with ataxia of unknown etiology.