Abordagem fisioterapêutica da ataxia espinocerebelar: uma revisão sistemática / Physical therapy approach to spinocerebellar ataxia: a systematic review / El abordaje fisioterapéutico de la ataxia espinocerebelosa: una revisión sistemática

A ataxia espinocerebelar (SCA) é uma afecção hereditária que cursa com a degeneração progressiva do cerebelo e suas vias, causando alterações do equilíbrio e de outras funções. O efeito das abordagens da fisioterapia no tratamento da SCA e a qualidade metodológica desses estudos foram analisados. Foi investigado ainda se os benefícios alcançados com o tratamento são retidos. As intervenções encontradas incluem treino do equilíbrio, marcha e coordenação; fortalecimento; caneleiras nos membros durante exercícios e aplicação de estimulação magnética transcraniana. A retenção das melhoras obtidas com o tratamento foi relacionada ao grau de evolução da SCA e à continuidade da prática de exercícios. Porém, novos estudos com maior rigor científico são necessários para eleger as abordagens mais adequadas para o tratamento de portadores de SCA...

The spinocerebellar ataxia (SCA) is an inherited disorder that leads to progressive degeneration of the cerebellum and its pathways with impairments of balance and other functions. Physical therapy studies for SCA treatment and their methodological quality were examined. We also investigated if the benefits achieved with treatment can be retained. The interventions identified included balance, gait and coordination training; strengthening; weights around the limbs during exercise and transcranial magnetic stimulation. The long-term improvements were related to the degree of SCA evolution and the continuity of exercise practice. Nevertheless, further studies with higher scientific accuracy are necessary to elect the best physical therapy approaches for SCA patients...

La ataxia espinocerebelosa (SCA) es una afección hereditaria que cursa con la degeneración progresiva del cerebelo y de sus vías, lo que causa alteraciones del equilibrio y de otras funciones. El resultado de los abordajes de la fisioterapia en el tratamiento de la SCA y la cualidad metodológica de estos estudios fueron analizados. Se investigó si los beneficios alcanzados con el tratamiento fueron retenidos. Las intervenciones encontradas incluyen entrenamiento del equilibrio, marcha y coordinación; fortalecimiento; canilleras en los miembros durante ejercicios y aplicación de la estimulación magnética transcraneana. La retención de las mejorías obtenidas con el tratamiento fue relacionada al grado de evolución de la SCA y a la continuidad de la práctica de ejercicios. Aunque nuevos estudios con mayor carácter científico son necesarios para elegir los abordajes más adecuados para el tratamiento de los portadores de la SCA...

Mitochondrial DNA point mutations studies in hereditary ataxia / 中国实用内科杂志

Objective To study the possible relationship between mitochondrial DNA(mtDNA)and hereditary ataxia(HA).Methods Polymerase chain reaction(PCR)was used to amplify 4 mtDNA segments of 30 patients with HA、some of their relatives and 35 volunteers.The point 3243、8993、8344 and point 11778 lied in the 4 mtDNA segments respectively.For the PCR products of point 3243 and 8993,restriction fragment length polymophism(RFLP)was performed to search for A3243G、T8993G or T8993C point mutations.For point 8344 and 11778 PCR products,single strand conformation polymorphism(SSCP)was executed to detect mutations.The HA patients’ results of SSCP were compared with their relatives and volunteers’.Sequencing would be carried out to find out exact mutations in those subjects whose SSCP results were abnormal.Results We had not found the A3243G、T8993G or T8993C point mutations in our study.All subjects’ mtDNA segments of point 8344 had not been found mutations.However,a new mtDNA point mutation-A11893G-was identified in 2 patients and 1 relative without symptoms from pedigree 1.Conclusion This new point mutation of mtDNA might be related to HA.

Study of mitochondrial DNA point mutations at positions 3243, 8993 in hereditary ataxia / 临床神经病学杂志

Objective To study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia (HA). Methods Polymerase chain reaction (PCR), restriction fragment length polymophism (RFLP) were performed to search A3243G, T8993G or T8993C point mutations in the amplified mitochondrial DNA of extract human perpheral white blood cells of 26 patients with HA and 35 normal controls. Results No point mutations of mitochondrial DNA A3243G, T8993G or T8993C were found in HA group and control group.Conclusion mitochondrial DNA A3243G, T8993G and T8993C mutations are not likely to be genetic factors of hereditary ataxia.