Research on Biomarkers and Genetic Factors in Inherited Movement Disorders Including Spinocerebellar Ataxias and Hyperkinetic Disorders

What this Trial Is About

Inherited movement disorders are rare and progressive conditions that can significantly affect autonomy over time. These disorders include spinocerebellar ataxias and various hyperkinetic disorders such as dystonias, choreas, tremor, parkinsonism, and myoclonus. The study focuses on understanding the clinical spectrum, genetic factors, natural history, and molecular basis of these diseases, aiming to develop biomarkers and support clinical and genetic management. The project also seeks to prepare patient groups ready for clinical trials and evaluate new symptomatic or mechanism-based therapies. Participants will undergo clinical follow-up involving demographic and medical history collection, neurological and clinical examinations, and use of rating scales specific to their condition. Optional procedures include cerebral MRI scans and biological sample collection. This observational study involves patients with inherited hyperkinetic movement disorders, at-risk individuals related to patients, and healthy controls, with some participants optionally undergoing skin biopsies or MRI examinations. Throughout the study, researchers will evaluate clinical, genetic, biological, and imaging biomarkers over a 10-year period to characterize disease progression and phenotype-genotype correlations. Participants will be monitored through interviews, neurological exams, rating scales, and optional imaging and biological assessments. The study aims to collect comprehensive data to support future therapeutic trials and improve diagnosis and patient care for these rare movement disorders.

Biomarker Research in Inherited Movement Disorders