The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene

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 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.KEY WORDS: spinocerebellar ataxia, spinocerebellar ataxia type 10, "pure" cerebellar ataxia.A história da ataxia espinocerebelar tipo 10 no Brasil: as viagens de um gene RESUMO -Os autores apresentam a história da descoberta da ataxia espinocerebelar tipo 10 (AEC10) no Brasil,

Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium

“…All SCA10 families in the Americas were of local indigenous ancestry. 1,[7][8][9] Brazilian patients with SCA10 ataxia present with a distinct phenotype of late onset pure cerebellar ataxia without epilepsy, differing from the Mexican phenotype in that aspect. Commonly, there is a slow progressive gait ataxia, with associated dysarthria and abnormal ocular dysmetria.…”

“…Commonly, there is a slow progressive gait ataxia, with associated dysarthria and abnormal ocular dysmetria. 1,8,9 Symptoms of neurodegenerative disorders are commonly exacerbated during pregnancy and postpartum. 10,11 The mechanism by which this heterogeneous group of disorders is precipitated by pregnancy is speculative.…”

“…1 There are more than 30 distinct subtypes, 16 of which with an identified gene. 2 SCA type 10 (SCA10) is autosomal dominant in inheritance.…”

Spinocerebellar Ataxia Type 10: From Amerindians to Latin Americans

“…Neuroimaging studies (brain magnetic resonance imaging and computed tomography) showed cerebellar atrophy without overt brainstem or cerebral atrophy. Eighteen patients from the five families who were genotyped showed expanded SCA10 alleles containing 1,350–2,400 ATTCT repeats [3, 10]. The SCA10 repeat size inversely correlates with the age of onset in these Brazilian patients.…”

1.320 Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients

“…In both countries all SCA10 families reported Amerindian ancestry. 4,6,7,9 Two additional reports on nonBrazilian South American populations diagnosed with SCA 10 were published more recently. Gatto et al 10 reported on two SCA 10 Argentinean patients presenting with cerebellar ataxia and epilepsy, associated with additional motor signs (dystonia in one case and parkinsonism on the other).…”