Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
Spastic AtaxiaThe aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.
Using Real-time fMRI Neurofeedback and Motor Imagery to Enhance Motor Timing and Precision in Cerebellar...
Cerebellar AtaxiaSpinocerebellar Ataxias1 moreThe aim of the research is to improve motor function in people with cerebellar ataxia by using neuroimaging methods and mental imagery to "exercise" motor networks in the brain. The relevance of this research to public health is that results have the potential to reduce motor deficits associated with cerebellar atrophy, thereby enhancing the quality of life and promoting independence.
Biomarker Research in Inherited Movement Disorders
Inherited Movement DisordersSpinocerebellar Ataxias1 moreInherited movement disorders are rare conditions, whose cumulative prevalence are in the order of 5-10/100,000 inhabitants, in most cases progressive and can lead to a significant loss of autonomy after one or more decades of evolution. They include spinocerebellar ataxias and hyperkinetic disorders (dystonias, choreas, tremor, parkinsonism and myoclonus with variable combination of those, or more complex alteration of movements). The existence of the National Reference Centre (CMR) for Rare Diseases (CMR Neurogenetics, devoted to ataxias and spastic paraparesis, dystonia and rare movement disorders and CMR Huntington, devoted to Huntington Disease) has allowed a more integrated vision of these diseases. This is illustrated, in the same family, by the occurrence of different clinical expressions of spinocerebellar ataxias and hyperkinetic disorders that share the same genetic background. Conversely, different causal mutations within the same gene may have very different ages at onset and a wide range of clinical expression, and the spectrum of new phenotypes linked to a single gene is still expanding . Many ataxia and dystonia genes are involved in similar pathways. There are numerous arguments supporting a share pathogenesis including synaptic transmission and neurodevelopment . BIOMOV project aims to : establish the clinical spectrum and natural history of these diseases, understand the role of genetic and familial factors on the phenotype, elucidate the molecular basis of these disorders and evaluate diagnostic strategies involving molecular tools for clinical and genetic management, develop multimodal biomarkers both for physiopathological studies and for accurate measures of disease progression, develop trial ready cohorts of well characterized genetic patients, test new therapies either symptomatic or based on pathophysiological mechanisms.
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.
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.
The EUROSCA Natural History Study
Spinocerebellar AtaxiaThe 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.
Using Wearable and Mobile Data to Diagnose and Monitor Movement Disorders
Essential TremorParkinson Disease5 moreThe purpose of the research is to better understand the motor behavior of individuals in health and disease. The specific purpose of this project is to identify if we can utilize a smartphone to diagnose different movement disorders and monitor their symptoms. A. Objectives Estimate symptom severity of Essential tremor (ET), Parkinson's disease (PD), Huntington's disease (HD), Primary focal dystonia (PFD), spinocerebellar ataxia (SCA), and Functional movement disorders (FMD) using a smartphone-based application Differentiate individuals with the different movement disorders from healthy controls based on features from the smartphone data Differentiate individuals with a specific movement disorder from people with other movement disorders based on features from the smartphone data B. Hypotheses / Research Question(s) We hypothesize that we can estimate the severity of symptoms using a smartphone application and that, using those estimates, we can differentiate individuals with movement disorders from healthy controls and from people with other movement disorders.
Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
Spinocerebellar AtaxiasCerebellar Ataxia1 moreThe purpose of this study is to create a repository for cerebellar ataxia and nucleotide repeat diseases in order to fully investigate the genetic and phenotypic presentations of both.