Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6
Objective: To study whether spinocerebellar ataxia type 6 (SCA6) patients have parkinsonism and striatal dopamine transporter (DAT) loss compared to gender- and age-matched healthy controls.…A unique phenotype associated with anti-GAD antibodies
Objective: To describe a case of hemiatiaxia, parkinsonism, and dystonia associated with anti-Glutamic Acid Decarboxylase (GAD) antibodies. Background: GAD antibodies have been implicated in endocrinopathies…Natural history of saccadic abnormalities in spinocerebellar ataxia 2: Implications to designing future clinical trials
Objective: The present study was aimed to assess the progression of saccade involvement in SCA2 patients, identify its main determinants and evaluate its usefulness as…A novel causal mutation for spinocerebellar ataxia 19/22 (SCA19)
Objective: We report a novel cause for SCA19. We obtained longitudinal exam data on the index case, and data on other family members. We conducted…Prodromal criteria of spinocerebellar type 2: Lessons for physiopathology, natural history and therapeutical trials
Objective: To identify criteria defining the prodromal stage of spinocerebellar ataxia 2 (SCA2). Background: The prodromal stage of spinocerebellar ataxias has not been systematically studied…Long-term impact of lead poisoning on neurologic function in children and adolescents
Objective: To elucidate (1) whether prolonged effects of lead exposure are persistently reflected by impaired neurological parameters and (2) whether these outcomes can be attributed…The aetiology of idiopathic late onset cerebellar ataxia
Objective: Assess the prevalence and compare clinical features of SAOA, MSA and sporadic ataxia patients with a genetic diagnosis in ILOCA patients. Background: Cerebellar ataxias…Spinocerebellar ataxia 17: First observation in Russia
Objective: To report the detection of the first case of spinocerebellar ataxia 17 in Russian population. Background: Autosomal dominant spinocerebellar ataxias (AD SCAs) are clinically…Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient
Objective: The aim of this study is to describe a case report of a Brazilian patient with sporadic cerebellar ataxia, associated with hypogonadotropic hypogonadism, and…GAA expansion with clinic/urodynamic findings in Friedreich’s ataxia with LUTS
Objective: This study correlate the number of GAA repetitions of alleles, the duration of the disease, and the age at the onset of the disease…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.