Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
Hereditary AtaxiaOBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies. II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.
Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes
Spinocerebellar Ataxia Type 3Machado-Joseph Disease2 moreThe study will consist of a prospective observation of subjects in a natural history design. The investigators will monitor changes of clinical scales, quality of life, messenger ribonucleic acid (mRNA) of candidate genes (CCL11, TNFSF14, FCGR3B, CLC, and SLA) (and their peptide products, when possible), and eotaxin and S100B serum levels, in order to determine which of them is (are) the most sensitive. Participants will be stratified in three groups: ataxic carriers, pre-ataxic carriers and non-carriers (controls).
Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD
Spinocerebellar Ataxia Type 3Machado-Joseph DiseaseThe study will consist of a prospective observation of subjects in a natural history design. Disease progression will be monitored through clinical scales and video-oculography. Participants will be stratified in three groups: ataxic carriers, pre-ataxic carriers and non-carriers (controls). The following clinical scales will be applied in all subjects at baseline and at months 12 and 24: SARA, SCAFI, CCFS, NESSCA, INAS and ICARS. Oculomotor function will be registered using video-oculography (EyeSeeCam, InterAcoustics) at the same time points. Progression rates, effect sizes and responsiveness to change will be established for all parameters and results will be compared between candidate biomarkers.
Biomarkers in Neurodegenerative Diseases
Mild Cognitive Impairment (MCI)Alzheimer Disease (AD)9 moreThe general purpose of this observational study is to examine biomarkers associated with the pathology of neurodegenerative diseases to potentially develop novel therapeutic approaches.
Troriluzole Individual Patient IND Expanded Access Program
SCASpinocerebellar AtaxiasThis is an expanded access program to provide troriuzole for treatment of spinocerebellar ataxia.
Neuropsychiatry and Cognition in SCA3/MJD
Spinocerebellar Ataxia Type 3Machado-Joseph Disease2 moreThis research investigates how cognitive-affective aspects evolve during the course of SCA3/MJD. Due to COVID-19 pandemics, this study protocol was adapted for online-only consultations. Evaluations happening after March 2020 have been done by videocall with patients, and no neurological evaluation was thus performed on these patients. A scale on Activities of Daily Living was added to the online protocol to replace SARA, SCAFI and CCFS scales.
Machado-Joseph Disease in Israel
Spinocerebellar Ataxia 3Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA-3) is the most common dominant ataxia. The genetic cause of this late-onset degenerative disorder is the expansion of a (CAG)n tract located in the exonic region of the ATXN3 gene. In 1994 the first case of MJD among the Yemenite Jewish subpopulation living in Israel was published. The puropse of this study is to describe the clinical phenotype and genotype of the Yemenite Jewish subpopulation with MJD living in Israel