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Case Reports
. 2018 Jan-Mar;21(1):68-70.
doi: 10.4103/aian.AIAN_415_17.

Spinocerebellar Ataxia-21 in a Turkish Child

Faruk Incecik  1 , Ozlem M Herguner  1 , Patrick Willems  2 , Neslihan O Mungan  1
Affiliations
Case Reports

Spinocerebellar Ataxia-21 in a Turkish Child

Faruk Incecik et al. Ann Indian Acad Neurol. 2018 Jan-Mar.

Abstract

Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey.

Keywords: Ataxia; child; genetic mutation.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Cerebral magnetic resonance imaging showed cerebellar atrophy
See this image and copyright information in PMC

References

    1. Storey E. Genetic cerebellar ataxias. Semin Neurol. 2014;34:280–92. - PubMed
    1. Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, et al. Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. Am J Hum Genet. 2015;97:855–61. - PMC - PubMed
    1. Burman JL, Hamlin JN, McPherson PS. Scyl1 regulates golgi morphology. PLoS One. 2010;5:e9537. - PMC - PubMed
    1. Burman JL, Bourbonniere L, Philie J, Stroh T, Dejgaard SY, Presley JF, et al. Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic. J Biol Chem. 2008;283:22774–86. - PubMed
    1. Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, et al. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain. 2014;137:2657–63. - PubMed

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