Postural Instability in Prodromal Spinocerebellar Ataxia Type 2: Insights into Cerebellar Involvement Before Onset of Permanent Ataxia

Studies on prodromal stage in spinocerebellar ataxias (SCAs) have become high priority approaches in view of their usefulness to detect biomarkers that herald the onset of permanent ataxia and assess the efficacy of future therapeutical trials [1]. The most comprehensive evaluation of prodromal SCA2 comes from the large and homogeneous population of Cuban preclinical carriers, which derives from a 13 years presymptomatic diagnostic program and the nationwide molecular epidemiological survey (AU)

Saccade Velocity as a Surrogate DiseaseMarker in Spinocerebellar Ataxia Type 2

Spinocerebellar ataxia type 2 (SCA2) is an autosomal-dominant disorder mani-festing with gait, limb, and speech incoordination, and with distinctive symptomssuch as early slowing of horizontal eye movements and early neuropathy.1–3 Neuro-pathological analysis has demonstrated severe olivopontocerebellar atrophy (OPCA)early in the course of disease, progressing to involve the anterior horn, substantia ni-gra, thalamus, and somatosensory pathways.4,5 Clinical onset is usually in midlife,but has been observed to range from 1 to 65 years of age, depending on the size ofthe underlying mutation, a CAG (cytosine-adenine-guanine)-trinucleotide repeat ex-pansion in exon 1 of the SCA2 gene...(AU)

Saccade velocity as a surrogate disease marker in spinocerebellar ataxia type 2.

We measured in 82 spinocerebellar ataxia type 2 (SCA2) patients and in 80 controls maximal saccade velocity (MSV) and correlated it to polyglutamine expansion size and disease duration. MSV is strongly decreased in SCA2 patients and is influenced mostly by polyglutamine size.

[Effects of a physical training program on quantitative neurological indices in mild stage type 2 spinocerebelar ataxia patients]. / Efectos de un programa de ejercicios físicos sobre variables neurológicas cuantitativas en pacientes con ataxia espinocerebelosa tipo 2 en estadio leve.

INTRODUCTION: Type 2 spinocerebelar ataxia (SCA2) is a neurodegenerative disease with higher prevalence and incidence in Holguín province, Cuba. At present, there is not any drug to counteract the loss of coordinative motor capacities of these patients. Thus physical training seems to be the only way to attenuate the course of disease. AIMS: To evaluate the effectiveness of a physical training program on quantitative neurological indices in SCA2 patients. PATIENTS AND METHODS: A samples of 87 SCA2 patients were studied. All subjects underwent a six month physical exercise program based on coordination, balance and muscular conditioning exercises. Quantitative tests were applied to all patients both before and after the application of the exercise program. Comparisons between pretest versus posttest values were made to evaluate the improvement in neurological indices. RESULTS: All neurological indices both with open eyes and closed eyes significantly improved from pretest to posttest. Static balance, evaluated by Romberg test, also enhanced with training. CONCLUSIONS: The exercise training program significantly improved the neurological indices in SCA2 patient with mild stage of disease.