Spinocerebellar Ataxia Type 5 (SCA5) Mimicking Cerebral Palsy: a Very Early Onset Autosomal Dominant Hereditary Ataxia.

Autor:	Gouvêa, Luane Abdalla, Raslan, Ivana Rocha, Rosa, Augusto Bragança Reis, Silva, Thiago Yoshinaga Tonholo, Campos, Rejane Macedo, Aragão, Marcelo de Melo, Barsottini, Orlando Graziani Povoas, Pedroso, José Luiz
Předmět:	SPINOCEREBELLAR ataxia FRIEDREICH'S ataxia CEREBRAL palsy CEREBELLAR ataxia MENTAL illness
Zdroj:	Cerebellum; Apr2023, Vol. 22 Issue 2, p316-318, 3p
Abstrakt:	Spinocerebellar ataxia type 5 (SCA5) is a rare autosomal dominant ataxia, clinically characterized by slow progressive ataxia with adult onset, usually during the fourth decade [[1]]. Biallelic loss-of-function variants in I SPTBN2 i gene are associated with autosomal recessive spinocerebellar ataxia type 14 (SCAR14) [[4]], while different heterozygous variants in the same gene cause SCA5 [[1]-[3]]. [Extracted from the article]
Databáze:	Complementary Index
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