title: Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias.
abstract: 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.
authors.affiliation: Departamento de Neurologia, Divisão de Neurologia Geral e Ataxias, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Marcus Vinicius Cristino de
authors.initials: MV
authors.lastname: Albuquerque
authors.affiliation: Departamento de Neurologia, Divisão de Neurologia Geral e Ataxias, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.affiliation: Departamento de Neurologia, Divisão de Neurologia Geral e Ataxias, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga Neto
authors.affiliation: Departamento de Neurologia, Divisão de Neurologia Geral e Ataxias, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Orlando Graziani Povoas
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics*