Jordi Corral

TL;DR: The molecular analysis of 87 unrelated familial and 60 sporadic Spanish cases of spinocerebellar ataxia found no SCA or DRPLA mutations were detected in the 60 sporadic cases, but one late onset patient was identified as a recessive form due to GAA-repeat expansions in the Friedreich’sAtaxia gene.

TL;DR: In these families, the syndrome was caused by mutations in this nucleus-encoded gene which deleteriously interacts with the mitochondrial genome, the first evidence of the implication of both genomes in a recessive disease is reported.

TL;DR: Cerebellar ataxia associated with CoQ deficiency in this case might be allocated in the transprenylation pathway or in the metabolic steps after condensation of 4-hydroxybenzoate and the prenyl side chain of CoQ.

TL;DR: Analysis of the repeat expansion dramatically changes diagnosis of SCA1, a clinical and genetic heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia which has been first localised to 6p and has been more recently characterised.

TL;DR: It is concluded that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre‐existing cerebellar and extrapyramidal semeiology.