The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders that involve the degeneration of the cerebellum and brainstem.1 These genetic diseases are characterized by autosomal dominant inheritance with roughly 44 known subtypes. Recently, dominant mutations in the CACNA1G gene, encoding the voltage-gated calcium channel CaV3.1, were linked to SCA42 in French2 and Japanese3, 4 families. SCA42 prevalence elsewhere in the world has yet to be documented. Through a combination of whole exome sequencing (WES) and linkage analysis, we have identified a SCA42 mutation in patients from three additional countries, expanding the world-wide prevalence of this disease.
Expanding the Global Prevalence of Spinocerebellar Ataxia Type 42
Francesca Cavalcanti;Sebastiano Cavallaro;
2018
Abstract
The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders that involve the degeneration of the cerebellum and brainstem.1 These genetic diseases are characterized by autosomal dominant inheritance with roughly 44 known subtypes. Recently, dominant mutations in the CACNA1G gene, encoding the voltage-gated calcium channel CaV3.1, were linked to SCA42 in French2 and Japanese3, 4 families. SCA42 prevalence elsewhere in the world has yet to be documented. Through a combination of whole exome sequencing (WES) and linkage analysis, we have identified a SCA42 mutation in patients from three additional countries, expanding the world-wide prevalence of this disease.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
