Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.
نویسندگان
چکیده
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.
منابع مشابه
Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection.
Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry. The authors report the history of SCA10 families from the south of Brazil (the states of Paraná and Santa Catarina), emphasizing the Belgian-Amerindian connection.
متن کامل734-740 Tagliari LAJP 1669:Tagliari
1 Departamento de Ciências Farmacêuticas, Universidade Federal de Santa Catarina – UFSC, Florianópolis, SC, Brazil. 2 Departamento de Farmácia, Universidade Estadual de Ponta Grossa – UEPG, Ponta Grossa, PR, Brazil. 3 Departamento de Farmacologia, Universidade Federal de Santa Catarina – UFSC, Florianópolis, SC, Brazil. 4 Departamento de Ciências Farmacêuticas, Universidade do Vale do Itajaí – ...
متن کاملSpinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings.
To the Editor: Dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases that affect the cerebellum, brain stem, and spinocerebellar tracts. SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and dentatorubral pallidoluysian atrophy (DRPLA) are caused by CAG trinucleotide repeat expansions (1). SCA8 has a CTG expansion in the causative gene. SCA10 has been found to represent a l...
متن کاملThe history of spinocerebellar ataxia type 10 in Brazil: travels of a gene.
The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.
متن کاملO-42: Expansion of CAG Repeats in theSpinocerebellar Ataxia Type 1 (SCA1) Gene inIdiopathic Oligozoospermia Patients
Background: The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males. Materials and Methods: Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by PCR with template DNA pur...
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ورودعنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 74 10 شماره
صفحات -
تاریخ انتشار 2016