Co-occurrence of two triplet repeat associated SCA mutations: A dilemma in clinical diagnosis, prognosis and genetic counselling and clinical significance
Objective: To report clinical and genetic outcomes of rare combinatiorial triplet repeat expansion(TRE), SCA mutations in patients. Background: The presence of more than one TRE-SCA…Abnormal findings in polisomnographic records of patients with spinocerebellar ataxia type 2 (SCA2)
Objective: The aim of this study was to assess the frequency of abnormal findings in sleep recordings of patients with SCA2. Background: Similar to other…Cancer in Machado Joseph disease patients – Low frequency as a cause of death
Objective: To compare the 15 years cumulative incidence of cancer (CIC) and the proportion of cancer as a cause of death in symptomatic Spinocerebellar ataxia…Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…Testing candidate transcriptional biomarkers of asymtpomatic and symptomatic stages in spinocerebellar ataxia type 3 (SCA3)
Objective: To investigate the potential of nine candidate genes as transcriptional biomarkers of asymptomatic and symptomatic stages of spinocerebellar ataxia type 3 (SCA3). Background: An…Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…CAG repeats number of ATXN7 in SCA7 patients and normal population in Japan
Objective: Patients with spinocerebellar ataxia type 7 (SCA7) have progressive ataxia associated with pigmental macular degeneration, pyramidal and extrapyramidal signs and some of them have…Evaluating the effects of deep brain stimulation (DBS) in mice with spinocerebellar ataxia (SCA1)
Objective: To determine the therapeutic effects of Deep Brain Stimulation (DBS) in mice with Spinocerebellar Ataxia (SCA1). Background: Ataxia is a movement disorder affecting balance…A largest case series study of spinocerebellar ataxia type 2(SCA2) from India: Do SCA2 clinical subtypes exists?
Objective: To study the extent of phenotypic variability in SCA2 families of Indian origin and to identify factors associated with it. Background: SCA2 is a…Clinical and analytical validation of novel autosomal recessive ataxia mutations identified from whole exome sequencing
Objective: To establish clinical significance of novel recessive ataxia mutations by phenotype-genotype correlation and screening of mutations in second cohort of recessive ataxia patients and…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.