Spinocerbellar ataxia

Background and Aim : Abstract: Spinocerebellar ataxia or spinocerebellar atrophy (SCA) is a term referring to a group of hereditary ataxia that is characterized by degenerative changes in the cerebellum, brain stem and spinal cord. There are many different type of SCA and they are classified according to the mutated gene. The sign and symptoms may vary by type but are similar and may include an uncoordinated gait, poor hand-eye coordination, dysarthria, involuntary eye movement, vision problem, and difficulty processing , learning and remembering information. In general it is difficult to differentiate among different type and all are characterized by problem with movement that worse overtime. Genetic test is the best way to confirm SCA and identify the specific type. several type of SCA are characterized by repeat expansion of the trinucleotide sequence. Here I presented 21 cases from 2 un related pedigree that some of them confirmed by genetic analysis Methods : case reportResults : we have 2 pedigree that in one of them there was 5 cases with SCA and their presentation was at 16- 19 and 24 year-old of age.SCA1 confirmed by genetic analysis in some of them. In 2nd pedigree we have 16 cases. 5 of them died before refer to us. their symptoms start at 38-40 year-old of age. SCA1 confirmed by genetic study and then we can prevented from another birth by PND and therapeutic abortion.so genetic counselling has important role for prevention. Conclusion : There is no cure for SCA and treatment are directed toward alleviating symptoms not the disease itself, so genetic counselling has important role for prevention of the disease.

کلیدواژه ها:

Spinocerebellar ataxia ، trinucleotide repeat expansion dysarthria ، uncoordinated gait