Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

Arquivos de Neuro-Psiquiatria

Marcus Vinicius Cristino De Albuquerque¹  José Luiz Pedroso¹  Pedro Braga Neto¹  Orlando Graziani Povoas Barsottini¹ 

关键词: spinocerebellar ataxias;    SCA;    spinocerebellar ataxia type 7;    genetic anticipation;    early onset ataxia;    ataxias espinocerebelares;    SCA;    ataxia espinocerebelar do tipo 7;    antecipação genética;    ataxia de início precoce;   

DOI  :  10.1590/0004-282X20140192

来源: SciELO

【 摘 要 】

The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.

【 授权许可】

CC BY   
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