Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.

Autor:	Norata, Davide, Alonge, Paolo, Grillo, Lucia, Calì, Francesco, Sturnio, Maurizio, Lupica, Antonino, Costa, Vanessa, Brighina, Filippo, Di Stefano, Vincenzo
Předmět:	CEREBELLUM degeneration SPINOCEREBELLAR ataxia GENETIC variation SYMPTOMS ATAXIA TRANSCRANIAL direct current stimulation FRIEDREICH'S ataxia
Zdroj:	Neurological Sciences; Mar2024, Vol. 45 Issue 3, p1283-1286, 4p
Abstrakt:	This document is a letter published in the journal Neurological Sciences. It discusses autosomal recessive spino-cerebellar ataxia type 10 (SCAR10), a rare neurodegenerative disorder characterized by progressive ataxia with cerebellar atrophy. The letter presents a case study of a 44-year-old male patient with SCAR10, describing his clinical presentation and the genetic variant associated with the disease. The document also discusses the function of the ANO10 gene and potential treatments for SCAR10. Overall, the letter provides valuable information for researchers studying SCAR10 and related disorders. [Extracted from the article]
Databáze:	Complementary Index
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