Neurophysiological features in spinocerebellar ataxia type 2: Prospects for novel biomarkers.

ABSTRACT

Electrophysiological biomarkers are useful to assess the degeneration and progression of the nervous system in pre-ataxic and ataxic stages of the Spinocerebellar Ataxia Type 2 (SCA2). These biomarkers are essentially defined by their clinical significance, discriminating patients and/or preclinical subjects from healthy controls in cross-sectional studies, their significant changes over time in longitudinal studies, and their correlation with the cytosine-guanine-adenine (CAG) repeat expansion and/or clinical ataxia scores, time of evolution and time to ataxia onset. We classified electrophysiological biomarkers into three main types (1) preclinical, (2) disease progression and (3) genetic damage. We review the data that identify sural nerve potential amplitude, maximum saccadic velocity, sleep efficiency, rapid eye movement (REM) sleep percentage, K-complex density, REM sleep without atonia percentage, corticomuscular coherence, central motor conduction time, visual P300 latency, and antisaccadic error correction latency as reliable preclinical, progression and/or genetic damage biomarkers of SCA2. These electrophysiological biomarkers will facilitate the conduction of clinical trials that test the efficacy of emerging treatments in SCA2.