Late-onset spinocerebellar ataxia type 10
DOI:
https://doi.org/10.28957/rcmfr.346Keywords:
Cerebellar ataxia, polyneuropathies, rehabilitationAbstract
Introduction. Spinocerebellar ataxia constitutes a group of genetic disorders consisting of a progressive degeneration that primarily affects the cerebellum, the brainstem, and the spinal cord, and is variably associated with other neurological symptoms.
Case presentation. A 60-year-old woman with no relevant medical history, who consulted the service of physiatry due to a clinical picture of two years of evolution consisting of progressive gait disturbance, loss of strength in the lower limbs, tremor in the upper limbs, dysphagia and fatigue. Physical examination revealed mild dysarthria, dysdiadochokinesia, dysmetria, bilateral hypometric saccades, and ataxic gait. A nuclear magnetic resonance imaging (NMR) of the brain was performed, which showed cerebellar atrophy; and the electromyography and nerve conduction study confirmed axonal polyradiculoneuropathy. The molecular genetic testing revealed expansion of an ATTCT pentanucleotide repeat, confirming the diagnosis of cerebellar ataxia type 10 (SCA10). Multidisciplinary management was initiated, in which physiatry began a plan of neurological rehabilitation, pain management with a neuromodulator and prescription of a walker-type mobility assistance device. The patient improved her independence in activities of daily living: the Barthel index increased from 45 points to 75 after 12 weeks of neurological rehabilitation.
Conclusion. SCA10 was initially considered as a pure cerebellar ataxia associated with seizures; however, in recent years the identification of new families with this disorder has revealed more diverse phenotypes, including polyneuropathy, pyramidal signs, and cognitive and neuropsychiatric impairment. A case of late-onset SCA10 (over 50 years of age), which could be the first sporadic case reported in Colombia is described here.
References
National Foundation of Ataxias (NAF). Diagnosis of Ataxia. Minneapolis, MN: NAF; [citado octubre 2 de 2022]. Disponible en: http://www.ataxia.org/learn/ataxia-diagnosis.aspx.
Taroni F, DiDonato S. Pathways to motor incoordination: The inherited ataxias. Nat Rev Neurosci. 2004;5(8):641-55. Disponible en: https://dx.doi.org/10.1038/nrn1474
National Center for Biotechnology Informatio (NCBI). ATXN10 ataxin 10 [Homo sapiens (human)]. Bethesda, MD: National Library os Medicine; 2021 [citado octubre 2 de 2022]. Dosponible en: https://www.ncbi.nlm.nih.gov/gene/25814.
White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, et al. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKC? to mitochondria in spinocerebellar ataxia 10. PLoS Genet. 2010;6(6):e1000984. Disponible en: https://dx.doi.org/10.1371/journal.pgen.1000984
Teive HAG, Ashizawa T. Spinocerebellar ataxia type 10: From amerindians to Latin Americans. Curr Neurol Neurosci Rep. 2013;13(11):393. Disponible en: https://dx.doi.org/10.1007/s11910-013-0393-9
Roxburgh RH, Smith CO, Lim JG, Bachman DF, Byrd E, Bird TD. The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease. J Neurol Sci. 2013;324(1-2):176-8. Disponible en: https://dx.doi.org/10.1016/j.jns.2012.09.030
Rasmussen A, Matsuura T, Ruano L, Yescas P, Ochoa A, Ashizawa T, et al. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol. 2001;50(2):234-9. Disponible en: https://dx.doi.org/10.1002/ana.1081
Alonso I. Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, et al. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology. 2006;66(10):1602-4. Disponible en: https://dx.doi.org/10.1212/01.wnl.0000216266.30177.bb.
Teive HAG, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T. Spinocerebellar ataxia type 10 - A review. Parkinsonism Relat Disord. 2011;17(9):655-61. Disponible en: https://dx.doi.org/10.1016/j.parkreldis.2011.04.001
Matsuura T, Ashizawa T. Spinocerebellar Ataxia Type 10. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022.
Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez-Labrada R, Aguilera-Rodríguez R, Laffita-Pérez D, Canales-Ochoa N, et al. Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24- week, rater-blinded, randomized, controlled trial. Mov Disord. 2018;33(9):1481-7. Disponible en: https://dx.doi.org/10.1002/mds.27437
Matsugi A, Bando K, Kikuchi Y, Kondo Y, Nakano H. Rehabilitation for Spinocerebellar Ataxia. In: Ambrosi PB, editor. Spinocerebellar Ataxia - Concepts, Particularities and Generalities. London: IntechOpen; 2022. Disponible en: https://dx.doi.org/10.5772/intechopen.87421
Fonteyn EM, Heeren A, Engels JJ, Boer JJ, van de Warrenburg BP, Weerdesteyn V. Gait adaptability training improves obstacle avoidance and dynamic stability in patients with cerebellar degeneration. Gait Posture. 2014;40(1):247-51. Disponible en: https://dx.doi.org/10.1016/j.gaitpost.2014.04.190
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