A cross-sectional study in spinocerebellar ataxia type 12 (SCA-12) patients from a tertiary care center in Eastern India
Objective: To study phenotype and Quality of life determinant in patients with SCA-12. Background: Spinocerebellar ataxia type 12 (SCA-12) is an extremely rare autosomal dominant,…Fragile X-associated tremor/ataxia syndrome in two female patients
Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…Can quantitative analysis of the “finger-to-nose test” discern between EOA and other conditions of coordination impairment?
Objective: In Early Onset Ataxia (EOA), we investigated whether quantitative analysis employing motion sensors could provide reliable and discriminative outcomes. Background: Many pediatric conditions can…Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series
Objective: To describe the role of X-inactivation in clinically discordant phenotypes in sisters with a fragile X mental retardation 1 (FMR1) gene premutation but varying…Clinico-genetic correlation in Indian spinocerebellar ataxia (SCA1) patients
Objective: To report the Clinico-genetic correlation in Spinocerebellar ataxia type 1 (SCA1) Patients in Indian Population. Background: Spinocerebellar ataxia type 1(SCA1) is a neurodegenerative disease…Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia
Objective: We here report on a novel SYNE1 mutation in an Austrian family extending the classical clinical phenotype in SYNE1 ataxia. Background: SYNE1 codes for…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.