Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans

Title: Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans
Creator: Mandrile, Giorgia; Di Gregorio, Eleonora; Goel, Himanshu; Giachino, Daniela; De Mercanti, Stefania; Iudicello, Marco; Rolando, Marco; Losa, Sabrina; De Marchi, Mario; Brusco, Alfredo
Relation: The Cerebellum Vol. 15, Issue 2, p. 208-212
Publisher Link: http://dx.doi.org/10.1007/s12311-015-0679-3
Publisher: Springer
Resource Type: journal article
Date: 2016
Description: Spinocerebellar ataxia type 8 (SCA8) (MIM 608768) is a dominantly inherited ataxia typically occurring in adulthood, with onset of the disease that may range from age 1 to 65 years. Common initial symptoms are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Some individuals present with nystagmus, dysmetric saccades and, occasionally ophthalmoplegia. Hyperreflexia and extensor plantar responses are present in some severely affected individuals. Life span is typically not shortened.
Subject: ATXNOS8; KLHL1; SCA8; genomic deletion; ataxia
Identifier: http://hdl.handle.net/1959.13/1348238
Identifier: uon:30176
Identifier: ISSN:1473-4222
Language: eng
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