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. 2024 Sep;45(9):4349-4365.
doi: 10.1007/s10072-024-07484-x. Epub 2024 Apr 8.

Genetic aspects of ataxias in a cohort of Turkish patients

Basak Gogus  1   2 , Muhsin Elmas  3 , Ulku Turk Boru  4
Affiliations

Genetic aspects of ataxias in a cohort of Turkish patients

Basak Gogus et al. Neurol Sci. 2024 Sep.

Abstract

Introduction: 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.

Methods: 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.

Results: 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).

Conclusions: 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.

Keywords: Ataxia; Genetics; WES.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
A, B Brain MRI image of patient #25 (sagittal and coronal). C, D Brain MRI image of patient #27 (sagittal and coronal). Both patients have a homozygous variant in the NPC1 gene and were diagnosed with “Niemann-Pick disease, type C1/D.”
Fig. 2
Fig. 2
A, B Brain MRI image of patient #19 (sagittal and coronal). C, D Brain MRI image of patient #20 (sagittal and coronal). Diffuse cerebral and cerebellar atrophy were present in both patients
See this image and copyright information in PMC

References

    1. Ashizawa T, Xia G (2016) Continuum: lifelong learning in neurology. Ataxia 22:1208
    1. Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G (2019) A diagnosis for all rare genetic diseases: the horizon and the next frontiers. Cell 177:32–37. 10.1016/J.CELL.2019.02.040 10.1016/J.CELL.2019.02.040 - DOI - PubMed
    1. Kumar A, Turner E, Shendure J (2010) Targeted capture and massively parallel sequencing of the human exome, in: Journal of Investigative Medicine. BMJ Publishing Group British Med Assoc House, Tavistock Square, London WC1H …, p 123
    1. Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Chardon JW, Yoon G, Rouleau GA, Suchowersky O, Siu V (2014) Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat 35:45–49 10.1002/humu.22451 - DOI - PMC - PubMed
    1. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE (2020) A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat 41:487–501 10.1002/humu.23946 - DOI - PMC - PubMed

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