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…Depression and clinical progression in spinocerebellar ataxias
Objective: To study the prevalence and influence of depressive symptoms in spinocerebellar ataxias (SCAs). Background: Depression is a common comorbidity in SCAs but its association…Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample
Objective: To give a concise description of clinical and imaging features of spinocerebellar ataxia type 14 (SCA14). Background: Since its genetic definition in 2003, the…Fiberoptic endoscopic evaluation of swallowing findings in patients with Machado-Joseph disease
Objective: To describe the main findings of Fiberoptic endoscopic evaluation of swallowing (FEES) in patients with MJD. Background: Machado-Joseph disease (MJD) is a degenerative process…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.