Usefulness of a simple symptom assessment scale for multiple system atrophy: data from HoRC-MSA Project
Objective: To investigate the usefulness of a symptom assessment scale for multiple system atrophy (MSA) in Hokkaido, Japan from the data of the Hokkaido Rare-disease…A strategic approach to understand microsatellite repeat loci among Indian spinocerebellar ataxia patients
Objective: To identify novel unstable tandem nucleotide repeat loci in uncharacterized ataxia patients. Background: Microsatellites like tandem nucleotide repeats are of importance to human genome…Objective Measures of Ataxic Gait Using Wearable Inertial Sensors
Objective: To investigate whether gait measures from wearable inertial sensors were sensitive to ataxia and related to SARA scores in patients with SCA. Background: Clinical…Cervical dystonia priori to ataxia in spinocerebellar ataxia type 3 patients
Objective: To report two cases of SCA3 who presented with cervical dystonia as a prominent feature or sole manifestation for many years prior to development…Cerebellar Ataxia as a Manifestation of Hashimoto Encephalopathy
Objective: To characterize the clinical, laboratory and radiologic findings as well as prognosis of Hashimoto encephalopathy (HE) presenting with cerebellar ataxia Background: HE is a…Cognition and emotion regulation in early onset ataxia
Objective: Evaluate cognition and emotion regulation of patients with early onset ataxia (EOA). Background: Early onset ataxia (EOA) is a movement disorder caused by a…Changes detected in swallowing function in Friedreich ataxia over 12 months
Objective: To determine if changes in swallowing function are detectable over 12 months in Friedreich ataxia Background: Dysphagia (swallowing impairment) is present in 98% of…Expanding the clinical phenotype of autosomal recessive spinocerebellar ataxia with Adult onset; a collection of case series
Objective: We present a case series of adult onset ataxia with variability in genetic mutations, yet common clinical phenotypic presentations that constitute the autosomal recessive…Identification of modifiers of the age of onset variance and disease progression in a Dutch cohort of Machado-Joseph disease patients
Objective: In this project, we aim to establish correlations between the length of the CAGexp, AO, and disease progression based on International Cooperative Ataxia Rating…A comparative study between OCT in SCA3 and 10
Objective: To describe OCT findings in spinocerebellar ataxia (SCA) type 10, correlate it with expansion size and disease severity and compare with those of SCA3…
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