Genetic and molecular aspects of spinocerebellar ataxias

Recent advances in hereditary spinocerebellar ataxias.

In recent years, molecular genetic research has unraveled a major part of the genetic background of autosomal dominant and recessive spinocerebellar ataxias. These advances have also allowed insight in (some of) the pathophysiologic pathways assumed to be involved in these diseases. For the clinician, the expanding number of genes and genetic loci in these diseases and the enormous clinical het...

C Spinocerebellar ataxias : an upd ate

Purpose of review Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias. Recent findings Important recent observations include insights into the mechanisms by which expanded polyglutamine causes cerebellar degeneration; new findings regarding how noncoding expansions may cause disease; the discovery that conventional (i.e. nonrepeat) mutations und...

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families

OBJECTIVE Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS We studied 150 patients from 104 families with spino...

Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD)

Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias.

OBJECTIVE To investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA. METHODS Three hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by ...