IJARP SJIF(2018): 4.908

International Journal of Advanced Research and Publications!

Genetically-Proven Spinocerebellar Ataxia 2 In A 41-Year Old Filipina: A Case Report

Volume 4 - Issue 4, April 2020 Edition
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Author(s)
Jessica Leika R. Matibag, MD, Eri Uematsu, MD, Cid Czarina E. Diesta, MD, FPNA
Keywords
Ataxia, Ataxin-2, CAG Expansion, Spinocerebellar ataxia 2.
Abstract
Introduction. Spinocerebellar ataxia is a group of neurodegenerative disorders characterized by varied clinical presentation of cerebellar dysfunction to cognitive impairment, caused by a CAG trinucleotide repeat expansion. Case presentation. This is a case report of a 41-year old Filipina with a 3-year history of gait imbalance and dysarthria with progression of cerebellar dysfunction overtime associated with cognitive dysfunction, and 3-tier family history of ataxia. On physical examination, there were fasciculations of risorius muscle and tongue with noted atrophy, hyporeflexia and extremity ataxia. Extensive work-up showed normal findings hence exclusion of acquired causes of cerebellar ataxias. The patient was then diagnosed to have Spinocerebellar Ataxia 2 based on the genetic testing and is the first reported in the Philippines. Conclusion. This is the first reported genetically-positive Spinocerebellar Ataxia 2 in the Philippines. The rarity of this disease and scarcity of genetic testing in the country warrants further investigation for treatment advances in the future
References
[1]. BP van de Warrenburg, RJ Sinke, CC Verschuuren-Bemelmans CC, et al. “Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.” Neurology, 58: 702-708, 2002.

[2]. A Antenora, C Rinaldi, A Roca, et al. “The multiple faces of spinocerebellar ataxia type 2.” Annals of Clinical and Translational Neurology, 4(9): 687-695, 2017.

[3]. G Orozco Diaz, A Nodarse Feites, R Cordoves Sagaz, et al. “Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients form a homogenous population in Holguin, Cuba.” Neurology, 40:1369-1375, 1990.

[4]. S Gispert, R Twells, G Orozco Diaz, et al. “Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1” Nat Genet., 4:295-299, 1993.

[5]. Pulst SM. Spinocerebellar Ataxia Type 2. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2016. 1998 Oct 23 [updated 2015 Nov 12].

[6]. T Kiehl, A Nechinoruk, K Figueroa, et al. “Generation and characterization of SCA2 (ataxin-2) knockout mice.” Biochem Biophys Res Commun., 339:17-24, 2006.

[7]. J Magana, L Velazquez-Perez, B Cisneros. “Spinocerebellar ataxia type 2: clinical presentation, molecular mechanism, and therapeutic perspectives.” Mol Neurobiol., 47:90-104, 2013.

[8]. A Illa, G De Michele, L Santoro, et al. “Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families.” J Neurol., 246:467-471, 1999.

[9]. L Velazquez-Perez, R Rodriguez-Labrada, J Garcia-Rodriguez, et al. “A comprehensive review of spinocerebellar ataxia type 2 in Cuba.” Cerebellum, 10:184-198, 2011.

[10]. L Schools, S Gispert, M Vorgerd, et al. “Spinocerebellar ataxia type 2: genotype and phenotype in German kindreds.” Arch Neurol., 54:1073-1080, 1997.

[11]. L Trojano, L Chiacchio, D Grossi, et al. “Determinants of cognitive disorders in autosomal dominant cerebellar ataxia type 1.” Neurol Sci., 157: 162-167, 1998.

[12]. A Gambardella, G Annesi, F Bono, et al. “CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin card sorting test and saccade velocity.” J Neurol., 245:647-652, 1998.

[13]. J Alves-Cruzeiro, L Mendonica, L de Pereira, C Nobrega. “Motor dysfunctions and neuropathology in mouse models of spinocerebellar ataxia type 2: a comprehensive review.” Front Neurosci., 10(572):1-14, 2016.

[14]. O Ross, N Rutherford, M Baker, et al. “Ataxin-2 repeat length variation and neurodegeneration.” Human Molecular Genetics, 20(16):3207-3212, 2011.