POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
Objective: To report the clinical, molecular and magnetic resonance imaging features of eight patients with POLR3A-realted spastic ataxia. Background: POLR3-related disorders comprise a number of…Evolution of ataxia in risk persons for spinocerebellar ataxia (SCA)
Objective: To study the premanifest stage of the most common SCAs. Specifically, we wanted to determine the conversion rate to ataxia in risk persons and…Lower urinary tract symptoms and urodynamic findings in SCAs
Objective: Characterization of urinary dysfunctions in SCAs is needed not only for the understanding of SCAs but also for the correct diagnosis in patients with…Normative Reference for Timed Up and Go Test (TUG) in Young Indian Adults- Preliminary Results
Objective: This study investigated the clinical usefulness of the time up and go test in young population and provide a reference range for healthy adults.…The progression rate of sporadic adult-onset cerebellar ataxia : 1-year follow up study
Objective: To assess progression rate of the sporadic adult-onset ataxia (SAOA) and usefulness of well-known evaluation tools. Background: The sporadic adult-onset ataxia (SAOA) is a…Ataxin-2 gene in the Cuban population: Mutagenesis and epigenetic DNA methylation disease influencing phenotype
Objective: To characterize genetics and epigenetics factors contributing to the origin and accounting to the Cuban SCA2 phenotype variability. Background: CAG repeat expansions in ATXN2…Ocular Motor Findings in Spinocerebellar Ataxia Type 17
Objective: To delineate the ocular motor findings in spinocerebellar ataxia type 17 (SCA17). Background: Even though the ocular motor findings largely overlap among spinocerebellar ataxia (SCA),…A Korean case of Fragile X-associated mild ataxia without tremor
Objective: To report a case of Fragile X-associated tremor/ataxia syndrome (FXTAS) only with mild ataxia. Background: FXTAS is a neurodegenerative disorder caused by the CGG trinucleotide…Sporadic progressive ataxia and palatal tremor: A case report
Objective: To report the clinical presentation and neuroimaging findings of sporadic PAPT. Background: Progressive ataxia and palatal tremor (PAPT) manifests as mid to late-adult onset slowly…Clinical and molecular features of a Chinese family with spinocerebellar ataxia type 6
Objective: To evaluate the clinical manifestation, CAG repeats of abnormal alleles, mitochondrial function and treatment of spinocerebellar ataxia type 6To evaluate the clinical manifestation, CAG…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.