小脑萎缩症 z-bo 2020-09-16 374

　　According to reports, spinocerebellar dyskinesia, also known as "cerebellar atrophy" (SCA), is one of the rare diseases in Hong Kong. On average, there is only one patient in every 5,000 Hong Kong residents. The age of onset of patients is mostly between 20 and 40. The cerebellum, brainstem and spinal cord degenerate and shrink due to genetic mutations. Most of the genetic mutations originate from family inheritance, and a few people have genetic mutations.

　　The medical community now knows that different gene mutations can cause different types of cerebellar atrophy. The Chinese University of China announced on the 24th that an interdisciplinary research team at the school had earlier discovered the fortieth disease-causing mutation genes.

　　It is reported that cerebellar atrophy is one of the dementias. Unlike usual cognitive dementia, most patients suffering from cerebellar atrophy will not lose their memory, but due to the impact of cerebellar atrophy, their mobility and language skills will be affected. Gradually decline, at the beginning it will be unstable, wobbly, slurred speech, muscle incoordination, difficult to write, difficulty in eating and swallowing, etc. in the late stage, unable to speak, unable to stand, use a wheelchair instead, and finally slow down because the body cannot produce protein normally Slow death.

　　There is no cure for SCA. Patients can only rely on physical therapy and rehabilitation to delay the disease and maintain basic self-care ability. If either parent has SCA symptoms, the probability of the next generation being sick can be as high as 50%.

　　Professor Chen Haoran of the School of Life Sciences of the Chinese University of Hong Kong established a 30-person research team three years ago, recruiting experts from various departments such as medical genetics, bioinformatics, neurology, etc., to study the pathogenic genes of local families with cerebellar atrophy in Hong Kong.

　　The team used computer analysis to compare tens of thousands of genes with the human genetic map, looking for abnormal characteristics of the gene. After three years, in one of the family's genes, it successfully found the 40th mutation gene that caused SCA.

　　Team member and consultant doctor of the Department of Chemical Pathology, CUHK, Yuan Yuebing said on the 24th that the medical community can use data to develop drugs and do a good job in genetic counseling. “Some patients may want to have a next generation, and the test results can help them decide their birth plans.”