Hong Kong Spinocerebellar Ataxias Registry
Spinocerebellar AtaxiaSpinocerebellar 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.
Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar...
Spinocerebellar Ataxia Type 1Spinocerebellar Ataxia Type 22 moreThe purpose of this study is verify the safety and efficacy of Human Umbilical Cord Mesenchymal Stem Cells (UC-MSC) therapy for patients with Spinocerebellar Ataxia, and in addition, explore the possible mechanisms of UC-MSC therapy in Spinocerebellar Ataxia.
Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
Spinocerebellar Ataxia Type 10Spinocerebellar ataxia type 10 (SCA10) is a hereditary ataxia whose ancestral mutation occurred in East Asia. The mutation is likely to have migrated during peopling of American continents from East Asia. We found a specific rare DNA variation associated with SCA10. We test whether this variation played a key role in the birth and subsequent spreading of SCA10 mutation.
A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals With Friedreich Ataxia...
Friedreich AtaxiaThis is a natural history study prospectively investigating neuroimaging markers of disease progression in children and adults with Friedreich ataxia (FA). There will be three assessment periods (baseline, 12 and 24 months). The study will include approximately 200 individuals with FA and 100 matched controls recruited across the six international academic sites. Other assessments will include secondary clinical and cognitive markers, as well as exploratory blood markers.
Treatment of Transcranial Alternating Current Stimulation(tACS)on Cerebellar Ataxia
Spinocerebellar Ataxia Type 3Multiple System Atrophy-cerebellar TypeThis is a longitudinal, triple-blind, randomized-controlled, prospective observational study assessing patients with cerebellar ataxia, including spinocerebellar ataxia type 3 (SCA3) and multiple system atrophy-cerebellar type (MSA-C), to examine the efficacy, safety, and tolerability of transcranial alternating current stimulation (tACS) for up to 3 months.
Sporadic Degenerative Ataxia With Adult Onset: Natural History Study
Late Onset Sporadic Cerebellar AtaxiaThe key goals of SPORTAX-NHS is to compare the phenotype of multiple system atrophy of cerebellar type (MSA-C) and sporadic adult onset ataxia of unknown aetiology (SAOA) and to determine the rate of disease progression in both groups including determination of the factors that predict the development of MSA-C vs. SAOA, and at which time after onset of ataxia, a reliable distinction between both disorders is possible. The planned study will also allow to collect blood samples and other biomaterials from patients with sporadic ataxia, which will be useful for future genetic and biomarker studies.
Biomarker for Friedreich's Ataxia (BioFridA)
FXN GeneFRDA1 moreInternational, multicenter, observational, longitudinal monitoring study to identify biomarker/s for Friedreich's Ataxia and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s
Swimming Economy in Swimmers and Paraswimmers as a Function of SR(Stroke Rate) and V(Velocity) Manipulations...
SwimmingCoordination Lack2 moreThe competitive swimming and open water swimming events are scheduled for the 2024 Paris Olympic and Paralympian Games. Generally associated with a non-neglectable number of medals in the last Olympics, swimming performance depends on the swimmer's ability to manage his or her Stroke Length and Stroke Rate, where Velocity can be defined as the product of SR and SL. The optimisation of this management depends on the swimmer's ability to develop a large motor repertoire and to use the coordination mode (catch-up, opposition, superposition) best suited to the environmental constraints and opponents' adversity. These adaptations may contribute to 1) a modification of the energy expenditure or be dependent on the energy supply necessary for muscular contraction and 2) the preferential use of one or other of the metabolic pathways in the production of this chemical energy, moreover in an aquatic environment inducing particular thermal exchanges.
Teleassessment in Ataxic Multiple Sclerosis
AtaxiaMultiple SclerosisOur aim is to compare ICARS and SARA scores with face-to-face and tele-assessment methods in ataxic multiple sclerosis patients. The hypotheses on which this study is based are; H1: Tele-assessment and face-to-face assessment results of the ICARS differ in patients with ataxic MS. H2: Tele-assessment and face-to-face assessment results of SARA differ in patients with Ataxic MS.
Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate...
LeukoencephalopathiesLBSL5 moreIn this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.