Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis

ConclusionThis meta-analysis provides quantitative data on the progression of the most common spinocerebellar ataxias based on patient numbers that exceed those of previous studies and confirms that disease progression is faster in SCA1, intermediate in SCA2 and SCA3 and slower in SCA6, with similar rates of disease progression in SCA2 and SCA3 between different populations, suggesting a possibility of international collaborative studies. Nevertheless, individual-patient data meta-analysis is needed to better understand the risk factors that influence disease progression and improve patient stratification in interventional trials.
Source: Journal of Neurology - Category: Neurology Source Type: research

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Para athletes with brain impairment are affected by hypertonia, ataxia and athetosis, which adversely affect starting, sprinting and submaximal running. The aim was to identify and synthesise evidence from studies that have compared the biomechanics of runners with brain impairments (RBI) and non-disabled runners (NDR).
Source: Journal of Science and Medicine in Sport - Category: Sports Medicine Authors: Source Type: research
Authors: Rodríguez-Labrada R, Medrano-Montero J, Velázquez-Pérez L Abstract Spinocerebellar ataxia type 2 is a degenerative disease that causes physical disability and, ultimately, prostration and death. Globally, reported prevalence is around 3 cases per 100,000 population and Cuba has the world's highest rates of the disease, affecting both patients and their at-risk descendants. In Holguín Province, which has the country's highest concentration of cases, incidence is 4.4 per 100,000 population and prevalence is 40.2 per 100,000 population. In 2000, a specialized research center was es...
Source: MEDICC Review - Category: International Medicine & Public Health Tags: MEDICC Rev Source Type: research
In conclusion, elevated brain amyloid was associated with family history and APOE ε4 allele but not with multiple other previously reported risk factors for AD. Elevated amyloid was associated with lower test performance results and increased reports of subtle recent declines in daily cognitive function. These results support the hypothesis that elevated amyloid represents an early stage in the Alzheimer's continuum. Blood Metabolites as a Marker of Frailty Frailty in older people is usually diagnosed in a sympt...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Conclusion These preliminary data point to a possible efficacy of ibrutinib in anti-MAG antibody neuropathy, which is the most common disabling paraproteinemic neuropathy, where active treatment is eagerly needed. Classification of evidence This study provides Class IV evidence that for patients with anti-MAG antibody neuropathy, ibrutinib improves neuropathy symptoms.
Source: Neurology Neuroimmunology and Neuroinflammation - Category: Neurology Authors: Tags: All Immunology, Peripheral neuropathy Article Source Type: research
CASE: Carl is a 12-year-old boy midline, with neurologic malformation, ataxia, bilateral strabismus with presumed residual visual impairment after surgical repair, and intellectual disability. He was referred to developmental-behavioral pediatrics for evaluation of possible autism spectrum disorder (ASD). Carl had a benign prenatal course and was born via spontaneous vaginal delivery at term. Bilateral strabismus was noted at birth. Despite surgery to address strabismus, Carl continues to be unable to raise his eyes above midline, and his visual status, including visual acuity, depth perception, color perception, and vi...
Source: Journal of Developmental and Behavioral Pediatrics - Category: Child Development Tags: Challenging Case Source Type: research
This study considers an instrumented spoon in the assessment of upper-limb functionality through the self-feeding activity of a group of individuals clinically diagnosed with the debilitating condition, Friedreich ataxia (FRDA). Thirty-five subjects with FRDA (34 ± 14 years old) and 14 age-matched healthy subjects performed three cycles of self-feeding consisting of grasping, scooping, transferring food to mouth and returning the spoon. Parameters relating to the feeding rate, trajectory of the rotation, range of motion and movement variability with specific attention to each segment were considered for the capture ...
Source: IEE Transactions on Neural Systems and Rehabilitation Engineering - Category: Neuroscience Source Type: research
We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC.MethodsFourteen NPC1-P, 17 NPC1-MC, and 31 age-matched HC were examined using spectral-domain OCT. Neurological examinations, clinical scales [modified Disability Rating Scale (mDRS); Scale for the Rating and Assessment of Ataxia (SARA); Spinocerebellar Ataxia Functional Index (SCAFI)], and video-oculography (VOG) were correlated with OCT data.ResultsMacular retinal nerve fiber ...
Source: Journal of Neurology - Category: Neurology Source Type: research
We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
This study aims to develop an observation-based assessment tool to evaluate activity limitations in individuals with a moderate level of CP when performing skills requiring jumping, sprinting, change of direction, coordination, and balance. Nineteen observers with different backgrounds from five world regions were recruited for this study, with accredited experience classifying/observing para-athletes with CP. All observers watched videos of 20 international para-athletes with different CP profiles (bilateral spasticity, athetosis/ataxia, unilateral spasticity; all Gross Motor Function Classification System level I) perfor...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts ofKCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
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