Spinocerebellar ataxia-21 in a Turkish child

Autor:	Faruk Incecik, Ozlem M Herguner, Patrick Willems, Neslihan O Mungan
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	Ataxia child genetic mutation Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Indian Academy of Neurology, Vol 21, Iss 1, Pp 68-70 (2018)
Druh dokumentu:	article
ISSN:	0972-2327 1998-3549
DOI:	10.4103/aian.AIAN_415_17
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/72a18544357248a38ddbe316eead75e3 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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