| Sumario: | Objective To investigate the molecular genetic characteristics and clinical manifestations of spinocerebellar ataxia type 2 (SCA2) within 2 families residing in Guizhou. Methods and Results Two families with SCA2 were included in the study, which were admitted to The Affiliated Hospital of Guizhou Medical University from November 2021 to August 2022 and diagnosed by genetic testing. The 2 probands in the 2 families both presented with unsteady gait and limb tremor as the main manifestation, accompanied by parkinsonism and cognitive dysfunction. Head MRI showed the cerebellar and brainstem atrophy in both probands. The carriers had no clinical symptoms in the family 1, but showed the cerebellar atrophy on MRI, and the brainstem atrophy was not obvious. Genetic testing showed that the CAG repeat numbers of the 2 alleles of the ATXN2 gene in the proband of family 1 were 15 and 40, and those of the carrier were 20 and 33. The CAG repeat numbers of the proband in family 2 were 20 and 39. The 2 probands were finally diagnosed with SCA2, and the 2 families were diagnosed as SCA2 families. The proband in family 1 showed no significant improvement with symptomatic treatment, while the proband in family 2 responded effectively to levodopa therapy within a short period. Conclusions The SCA2 type of Han population in Guizhou can be manifested as ataxia combined with parkinsonism and cognitive dysfunction, and levodopa is effective in the treatment of SCA2 combined with parkinsonism. The repeat number of CAG is related to its clinical features, and those who carry CAG intermediate repeats of ATXN2 gene may have insufficiency.
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