Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population

Neuroscience Letters
Zhao ChenHong Jiang

Abstract

Autosomal dominant cerebellar ataxias (ADCAs), genetically classified into spinocerebellar ataxias (SCAs), are a highly heterogeneous group of neurodegenerative disorders. Recently, mutations in the fibroblast growth factor 14 gene (FGF14) have been reported to cause SCA27 subtype. To evaluate the frequency of FGF14 mutations in mainland of China, we performed molecular genetic analysis in 67 unrelated familial ataxia cases and 500 normal controls by denaturing high-performance liquid chromatography (DHPLC) and DNA direct sequencing. Interestingly, we found a pair of siblings carried the same heterozygous variation (c.-10delC) characterized by different clinical features, which is probably a novel insertion/deletion (I/D) polymorphism in the 5'UTR region of the exon 1b. It suggests that SCA27 is a rare subtype in China.

References

Sep 3, 1996·Proceedings of the National Academy of Sciences of the United States of America·P M SmallwoodJ Nathans
Dec 19, 2002·American Journal of Human Genetics·John C van SwietenPeter Heutink
Oct 6, 2005·Molecular Genetics and Metabolism·Kenjiro KosakiTorayuki Okuyama
Apr 6, 2006·Journal of Molecular Endocrinology·Michel CrépinMarie-Françoise Odou
Jan 16, 2007·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Yi ZhaoEng-King Tan
Nov 26, 2010·Brain : a Journal of Neurology·Jun Ling WangBei Sha Tang

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Citations

Jan 9, 2013·The International Journal of Neuroscience·Lan PengHong Jiang
Jun 20, 2015·Frontiers in Cellular Neuroscience·Filippo TempiaFernanda Laezza
Jan 9, 2015·Neurogenetics·Karine ChoquetBernard Brais
Mar 1, 2020·Journal of Internal Medicine·M PaucarP Svenningsson
Apr 8, 2020·The Cerebellum·Aasef G Shaikh, Mario Manto

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