Luis E. Almaguer-Mederos

TL;DR: The comprehensive characterization reached in Cuba through clinical, neuroepidemiological, neurochemical, and neurophysiological evaluation of SCA2 patients and pre-symptomatic subjects, which has allowed the identification of new disease biomarkers and therapeutical opportunities are highlighted.

TL;DR: Saccade velocity is a sensitive SCA2 endophenotype that reflects early pontine degeneration and may be a useful diagnostic parameter before the onset of ataxia.

TL;DR: Early features of SCA2 are detectable before the onset of the cerebellar syndrome, and are associated with expanded CAG repeats and the time to onset of cerebellary syndrome.

TL;DR: Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.

TL;DR: Sensory amplitudes could be useful biomarkers to assess the progression of peripheral nerve involvement and therefore to evaluate future clinical trials of therapeutic agents, according to a prospective follow up evaluation of sensory and motor conduction in SCA2 mutation carriers.