Ataxias cerebelares hereditárias: do martelo ao gen.

the first year of implementation of the predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. David G, Dürr A, Stevanin G,

ABSTRACT - The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure

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 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

ataxias can be divided into: 1) autosomal recessive cerebel- lar ataxias (ARCAs); 2) autosomal dominant cerebellar atax- ias, or dominant spinocerebellar ataxias (SCAs); 3) X-linked

assessed 18 patients with spinocerebellar ataxia and observed normal hearing in all of them; however, five of the seven (71%) Friedreich’s ataxia patients had abnormal BAEP

The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies.. Cláudia Emília Vieira