View clinical trials related to Spinocerebellar Ataxia.
Filter by:Spinocerebellar ataxias (SCA) 1, 2, 3 and 6 are the most common, autosomal dominantly inherited cerebellar degenerations. And in the Chinese population, the most common SCA is SCA3 and the frequency of SCA 3 among SCA patients is 72.5%, followed by SCA 2 that the frequency is 12% among SCA patients. For SCA 1, the frequency among SCA patients is 7%. Even SCAs are rare diseases, a significant amount of Chinese in Hong Kong still suffer from this disorders. SCA Association in Hong Kong has 88 members who are suffering from spinocerebellar degeneration, many of them have a genetic confirmation. As there are few treatments for SCAs; therefore, understanding SCAs clinical manifestation and disease mechanisms are the first step towards development of effective treatment. The objective of this study is to develop the first SCA registry in Hong Kong with bio-repository bank for clinical and genetic information as well as serum and fibroblasts.
This is a piloting study using continuous motor training provided via whole body-controlled video games (exergames) to establish proof-of-concept evidence that such training leads to motor and neural changes in pre-manifest subjects with spinocerebellar ataxias (SCA).
Background: Spinocerebellar ataxia type 7 (SCA7) is disease in which people have problems with coordination, balance, speech and vision. It is caused by a change in the ATXN7 gene. A mutation in this ATXN7 gene causes changes in eye cells, which can lead to vision loss. There is no cure for SCA7 but researchers are looking for possible treatments. Researchers need more information about SCA7. They want to collect vision and neurology related data from people with SCA7. They want to learn how and what changes in the eye and brain when the ATXN7 gene isn t working properly. Objective: To learn more about SCA7 and its progression. Eligibility: People ages 12 and older with SCA7. Design: Participants will be screened with medical history and genetic testing from a previous National Eye Institute study or their personal physician. Participants will have at least 7 visits over 5 years. They will have 2 visits during the first week of the study. Then they will be asked to come back every year for the next 5 years. Each visit will last several days and will include: - Medical and eye history - Several eye tests: some will include dilating the pupil with eye drops and taking photos or scans of the eyes. - Electroretinography (ERG): Participants will sit in the dark with their eyes patched for 30 minutes. After this, the patches will be removed and contact lenses put into the eyes. They will watch flashing lights and information will be recorded. - Neurological exams: Sensation, strength, coordination, reflexes, attention, memory, language, and other cognitive functions will be tested. - Brain MRI: They will lie in a machine that takes pictures of the brain. - Blood and urine tests - Optional skin biopsy: About 3 millimeters of skin will be removed for more research testing; this is half the size of a pencil eraser.
The key goals of EUROSCA-NHS is to determine and compare the rate of disease progression in SCA1, SCA2, SCA3 and SCA6 including determination of the order and occurrence of non-ataxia symptoms, assessment of activities of daily living (ADL) and quality of life (QoL), and identification of predictors of disease progression and survival.