View clinical trials related to Spinocerebellar Ataxias.
Filter by:Inherited 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 : 1. establish the clinical spectrum and natural history of these diseases, 2. understand the role of genetic and familial factors on the phenotype, 3. elucidate the molecular basis of these disorders and evaluate diagnostic strategies involving molecular tools for clinical and genetic management, 4. develop multimodal biomarkers both for physiopathological studies and for accurate measures of disease progression, 5. develop trial ready cohorts of well characterized genetic patients, 6. test new therapies either symptomatic or based on pathophysiological mechanisms.
The primary aim is to show balance training improves DCD individual's ability to compensate for their activity limitations, but does not impact disease progression. The second aim is to demonstrate aerobic exercise improves balance and gait in DCD persons by affecting brain processes and slowing cerebellar atrophy.
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and balance impairments in sitting and standing. Trunk local stability during gait is lower in patients with degenerative ataxia than that in healthy adult population. Given the fact that drug interventions are rare in degenerative diseases and limited to only specific type of diseases and symptoms, physiotherapy is a major cornerstone in current therapy of ataxic gait. Core stability exercises training could be included as an adjunct to conventional balance training in improving dynamic balance and gait. Due to the nature of the interventions, the study will have a single blind design.
The study is to examine the effect of functional trunk training on trunk control and upper extremity functions in patients with autosomal recessive ataxia.
This 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.
The present study investigated the efficacy and safety of combination treatment of repetitive transcranial magnetic stimulation (rTMS) and physical therapy (PT) in patients with cerebellar variant of multiple system atrophy (MSA-C) and spinocerebellar ataxia.
The 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.
Spinocerebellar 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.
There are no clinically established treatments which have been proven to delay the disease progression in spinocerebellar ataxia (SCA) 3. Most available treatments are only for symptom alleviation, and thus the majority of patients will eventually progress to needing and wheel chair and eventually bedridden. As trehalose appear to be potentially promising treatment in SCA, the investigators aim to conduct this study using oral trehalose in our genetically confirmed SCA 3 patients.
The 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).