Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds

The International Journal of Neuroscience
Dandan JiaHong Jiang

Abstract

Autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders primarily affecting the cerebellum. Nearly 33 genetically distinct subtypes have been defined, and 19 seemingly unrelated disease genes have been identified so far. Recently, mutations in the ATPase family gene 3-like 2 (AFG3L2) gene were presented to cause SCA28 subtype. In order to define the frequency of SCA28 mutation in Chinese mainland, we performed molecular genetic analysis in 67 unrelated affected individuals with ADCA. At last, we did not find AFG3L2 gene mutation, except for three known single nucleotide polymorphisms (SNP)s. It suggests that SCA28 subtype is very rare in Chinese mainland.

References

Apr 22, 2004·Lancet Neurology·Ludger SchölsOlaf Riess
Oct 28, 2005·Brain : a Journal of Neurology·Claudia CagnoliAlfredo Brusco
Jul 25, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Francesca MalteccaGiorgio Casari

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Citations

Jul 24, 2014·Genes·Erin Sandford, Margit Burmeister
Jan 9, 2013·The International Journal of Neuroscience·Lan PengHong Jiang
Aug 2, 2021·Journal of the Neurological Sciences·Han-Lin ChiangYi-Chung Lee

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