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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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Table of contents

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 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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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

List of references:

  1. Rossi M, Anheim M, Durr A, et al. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord. 2018;33(7):1056-1076. https://doi.org/10.1002/mds.27415
  2. Nuzhnyi EP, Abramycheva NY, Safonov DG, et al. Massive Parallel Sequencing and the Problem of Overlapping Phenotypes in Hereditary Spastic Paraplegias and Spinocerebellar Ataxias. Russ J Genet. 2022;58:456-461.  https://doi.org/10.1134/S1022795422040111
  3. Ryzhkova OP, Kardymon OL, Prokhorchuk EB, et al. Guidelines for the interpretation of data on human DNA sequencing obtained by methods of massive parallel sequencing (MPS), (ed. 2018, version 2). Meditsinskaya Genetika. 2019;18(8):3-23. (In Russ.). https://doi.org/10.25557/2073-7998.2019.02.3-23
  4. Chrysanthou A, Ververis A, Christodoulou K. ANO10 Function in Health and Disease. Cerebellum. 2023;22(3):447-467.  https://doi.org/10.1007/s12311-022-01395-3
  5. Vermeer S, Hoischen A, Meijer RP, et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet. 2010;87:813-819.  https://doi.org/10.1016/j.ajhg.2010.10.015
  6. Nanetti L, Sarto E, Castaldo A, et al. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. J Neurol. 2019;266(2):378-385.  https://doi.org/10.1007/s00415-018-9141-z
  7. Traschütz A, Adarmes-Gomez AD, Anheim M, et al. Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. Mov Disord. 2023;38(6):1109-1112. https://doi.org/10.1002/mds.29397
  8. Balreira A, Boczonadi V, Barca E, et al. ANO10 mutations cause ataxia and coenzyme Q10 deficiency. J Neurol. 2014;261(11):2192-2198. https://doi.org/10.1007/s00415-014-7476-7
  9. Chamard L, Sylvestre G, Koenig M, et al. Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation. European Neurology. 2016;75(3-4):186-190.  https://doi.org/10.1159/000445109
  10. Vaughan D, Affendi A, Sheahan P, et al. Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10. BMJ Case Reports. 2021;14(12):e245484. https://doi.org/10.1136/bcr-2021-245484
  11. Bogdanova-Mihaylova P, Austin N, Alexander MD, et al. Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship. Mov Disord Clin Pract. 2016;4(2):258-262.  https://doi.org/10.1002/mdc3.12396
  12. Nieto A, Pérez-Flores J, Corral-Juan M, et al. Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene. Neurocase. 2019;25:195-201.  https://doi.org/10.1080/13554794.2019.1655064
  13. Yang SL, Chen SF, Jiao YQ, et al. Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family. J Clin Neurol. 2020;16(2):333-335.  https://doi.org/10.3988/jcn.2020.16.2.333
  14. Wiethoff S, Hersheson J, Bettencourt C, et al. Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations. J Neurol. 2016;263(8):1503-1510. https://doi.org/10.1007/s00415-016-8148-6
  15. Gros-Louis F, Dupré N, Dion P, et al. Mutations in SYNE1 lead to a Newly Discovered Form of Autosomal Recessive Cerebellar Ataxia. Nat Genet. 2007;39:80-85.  https://doi.org/10.1038/ng1927
  16. Qian N, Wei T, Yang W, et al. Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family. Front Genet. 2022;13:795188. https://doi.org/10.3389/fgene.2022.795188
  17. Indelicato E, Nachbauer W, Fauth C, et al. SYNE1-ataxia: Novel genotypic and phenotypic findings. Park Relat Disord. 2019;62:210-214.  https://doi.org/10.1016/j.parkreldis.2018.12.007
  18. Synofzik M, Smets K, Mallaret M, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain: A Journal Of Neurology. 2016;139(Pt 5):1378-1393. https://doi.org/10.1093/brain/aww079
  19. Spagnolo F, Monfrini E, Pinto V, et al. Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant. Clin Park Relat Disord. 2023;9:100205. https://doi.org/10.1016/j.prdoa.2023.100205
  20. Holla VV, Surisetti BK, Prasad S, et al. Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum. Park Relat Disord. 2021;87:22-24.  https://doi.org/10.1016/j.parkreldis.2021.04.014

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