Neurorehabilitation Improves the Motor Features in Prodromal SCA2: A Randomized, Controlled Trial.

BACKGROUND: The search for early interventions is a novel approach in spinocerebellar ataxias, but there are few studies supporting this notion. This article aimed to assess the efficacy of neurorehabilitation treatment in prodromal spinocerebellar ataxia type 2. METHODS: Thirty spinocerebellar ataxia type 2 preclinical carriers were enrolled in a randomized, controlled trial using neurorehabilitation. The intervention in the treated group was 4 hours per day, 5 days per week for 12 weeks, emphasizing static balance, gait, and limb coordination. The control group did not receive rehabilitation. The primary outcome measure was the time for 5-m tandem gait over the floor. Secondary outcomes included other timed tests with increased motor complexity, as well as the scores of the SARA and the Inventory of Non-ataxia Symptoms. RESULTS: The times for 5-m tandem gait over the floor and the mattress were significantly reduced only in the rehabilitated group. Moreover, the times upholding the tandem stance over a mattress and the seesaw were notably increased only in this group. Likewise, the finger-nose and the heel-shin tests were improved in the rehabilitated group alone. The SARA score and the count of nonataxia symptoms were unchanged. CONCLUSIONS: This rehabilitation program improves the subtle gait, postural and coordinative deficits in prodromal spinocerebellar ataxia type 2, which provided novel hints about the preservation of motor learning and neural plasticity mechanisms in early disease stages, leading chances for other interventional approaches in this and other spinocerebellar ataxias. © 2019 International Parkinson and Movement Disorder Society.

Optimization of the enzymatic hydrolysis of Blue shark skin.

Enzymatic hydrolysis of Blue shark skin using Protamex™ was evaluated seeking optimal process conditions. The influence of temperature (45 to 65 °C), pH (6.8 to 8), and enzyme/substrate ratio (E/S; 1% to 5%) on the responses of degree of hydrolysis and protein recovery were determined and process optimization was performed looking for maximum value of the responses. Optimum conditions were established (T = 51 °C, E/S = 4%, and pH = 7.1) and model validation was accomplished by triplicate. Under these conditions protein hydrolysates were prepared and characterized by their amino acid composition, peptide size distribution, and antioxidant capacity by ferric reducing antioxidant power (FRAP) and Trolox equivalent antioxidant capacity (TEAC) assays. A degree of hydrolysis of 19.3% and protein recovery of 90.3% were obtained at optimal conditions. Chemical score indicated that the hydrolysate supplies minimal essential amino acid requirements for adults. Molecular weight of peptides on the hydrolysate was below 6.5 kDa. Enzymatic hydrolysis process was efficient for recovery of low molecular weight peptides with important nutritional content and antioxidant activity (FRAP = 12 µmol eq. in FeSO(4).7H(2)O/g of protein, TEAC = 225.3 µmol eq. in trolox/g of protein).

Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2founder effect in Holguin

The objective of this study was to determine the prevalence of hereditaryataxias in Cuba, with a specialfocus on the clinical and molecular features of SCA2. Clinical assessmentswere performed by neurologicalexaminations and application of the SARA scale. Molecular analyses ofgenes SCA1–3, SCA6, SCA17and DRPLA identified 753 patients with SCA and 7173 asymptomaticrelatives, belonging to 200 unrelatedfamilies. 86.79 percent of all SCA patients were affected with SCA2. In the Holguin province, the averagepopulation prevalence of SCA2 is 40.18×105 inhabitants, with theremarkable figure of 141.66×105 inthe Baguanos municipality. The high prevalence of the SCA2 mutation inHolguin reflects most likelya founder effect. The stabilization of the prevalence along time suggeststhe existence of premutatedchromosomes with pure CAG, acting as reservoir for further expansions. CAGrepeat length correlatedinversely with age at onset, accounting for 80 percent of the variability. Genetic anticipation was observed in the 80 percent of transmissions. Repeat instability was greater in paternaltransmissions whereas CAG expansionswithout anticipation was observed in 10.97 percent suggesting the effect of CAA interruptions in the CAGsegment, which decrease the toxicity of the abnormal ataxin-2, and/orother protective factors...(AU)

Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.

The objective of this study was to determine the prevalence of hereditary ataxias in Cuba, with a special focus on the clinical and molecular features of SCA2. Clinical assessments were performed by neurological examinations and application of the SARA scale. Molecular analyses of genes SCA1-3, SCA6, SCA17 and DRPLA identified 753 patients with SCA and 7173 asymptomatic relatives, belonging to 200 unrelated families. 86.79% of all SCA patients were affected with SCA2. In the Holguin province, the average population prevalence of SCA2 is 40.18x10(5) inhabitants, with the remarkable figure of 141.66x10(5) in the Baguanos municipality. The high prevalence of the SCA2 mutation in Holguin reflects most likely a founder effect. The stabilization of the prevalence along time suggests the existence of premutated chromosomes with pure CAG, acting as reservoir for further expansions. CAG repeat length correlated inversely with age at onset, accounting for 80% of the variability. Genetic anticipation was observed in the 80% of transmissions. Repeat instability was greater in paternal transmissions whereas CAG expansions without anticipation was observed in 10.97% suggesting the effect of CAA interruptions in the CAG segment, which decrease the toxicity of the abnormal ataxin-2, and/or other protective factors.