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Nuzhnyi E.P.

Research Center of Neurology

Protopopova A.O.

Research Center of Neurology

Abramycheva N.Yu.

Research Center of Neurology

Protsenko A.R.

Research Center of Neurology

Illarioshkin S.N.

Research Center of Neurology

Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes

Authors:

Nuzhnyi E.P., Protopopova A.O., Abramycheva N.Yu., Protsenko A.R., Illarioshkin S.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2024;124(8): 32‑38

DOI: 10.17116/jnevro202412408132

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RARE FORMS OF AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA ASSOCIATED WITH MUTATIONS IN THE ANO10 (ATX-ANO10) AND SYNE1 (ATX-SYNE1) GENES
RARE FORMS OF AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA ASSOCIATED WITH MUTATIONS IN THE ANO10 (ATX-ANO10) AND SYNE1 (ATX-SYNE1) GENES

To cite this article:

Nuzhnyi EP, Protopopova AO, Abramycheva NYu, Protsenko AR, Illarioshkin SN. Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;124(8):32‑38. (In Russ.)
https://doi.org/10.17116/jnevro202412408132

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Abstract:

OBJECTIVE

To analyze clinical and genetic characteristics of patients with the verified rare forms of autosomal recessive spinocerebellar ataxias, ATX-ANO10 and ATX-SYNE1.

MATERIAL AND METHODS

Six unrelated patients with established diagnoses were examined: 4 patients with ATX-ANO10 and 2 patients with ATX-SYNE1. Brain MRI and nerve conduction study were performed. To screen for cognitive impairment, the scale for the Assessment and Rating of Ataxia (SARA), and the Montreal Cognitive Assessment Scale (MoCA) were used. Mutation screening included panel sequencing on the Illumina MiSeq platform.

RESULTS

Six variants were found in the ANO10 gene: the previously described pathogenic nonsense mutations c.G1025A (p.W342X) and c.C1244G (p.S415X), as well as novel probably pathogenic variants c.1477-2A>G and c.G101T (p.W34L) and missense mutations c.A110C (p.N37T) and c.T104C (p.L35P) of undetermined significance. A novel nonsense mutation c.C8911T (p.Q2971X) and a previously described pathogenic variant c.C4939T (p.Q1647X) were found in the SYNE1 gene. The clinical presentation of the ATX-ANO10 and ATX-SYNE1 was typical presenting with slowly progressive cerebellar ataxia with pyramidal signs, with young onset and cerebellar atrophy according to brain MRI study.

CONCLUSION

We provided first-ever data on clinical features and mutation spectrum In Russian patients with ATX-ANO10 and ATX-SYNE1. The phenotype of these ataxias is nonspecific, so the method of choice for molecular diagnostics is massive parallel sequencing.

Keywords:

spinocerebellar ataxia
massive parallel sequencing
ANO10 gene
SYNE1 gene
clinical presentation

Authors:

Nuzhnyi E.P.

Research Center of Neurology

Protopopova A.O.

Research Center of Neurology

Abramycheva N.Yu.

Research Center of Neurology

Protsenko A.R.

Research Center of Neurology

Illarioshkin S.N.

Research Center of Neurology

Received:

26.04.2024

Accepted:

27.04.2024

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References:

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