Spinocerebellar Ataxias Natural History

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2, 3, and 6 (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease. The research questions are: How does the disease progress over time? What are the best ways to measure disease progression? Do some genes, other than the gene that is abnormal in the SCA disease, have any effect on the way the disease behaves? ]]>
7301 – Age at OnsetEligibilityFunctional StagingNeurological ExaminationPatient Global ImpressionPHQ 9Physician Global ImpressionSARATherapy ReviewTimed TestsUHDRS IVEQ-5D Health QuestionnaireConclusion of Study ParticipationConcomitant MedicationsDeath RecordDemographics (Short)General Medical HistoryGeneral Physical ExamInclusion Criteria Age 6 years and above Presence of symptoms and signs of ataxia Molecular diagnosis of SCA 1, 2, 3, or 6 either in the participant or an affected family member Willingness to participate in the study and ability to give informed consent. Exclusion Criteria Known recessive, X-linked and mitochondrial ataxias Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing ]]>
Study Activated May 19, 2010 Study Final Closed October 16, 2012 ]]>