Prolonged cerebellar syndrome after Legionnaire’s disease
Objective: Present rare case of ataxia and tremor one year following Legionella infection with CNS symptoms. Background: Transient, acute neurological syndromes may occur in patients…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…Iron accumulation and volume loss in the extrapyramidal motor system in Friedreich ataxia: The IMAGE-FRDA study
Objective: To examine whether iron dysregulation and neurodegeneration influences the motor system outside of the cerebellum in Friedreich ataxia (FRDA). Background: FRDA is an autosomal…European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…Hereditary spastic paraplegia caused by heterozygous AFG3L2 and SPG7 mutations
Objective: To report a new late-onset autosomal recessive spastic paraplegia caused by heterozygous mutations in the AFG3L2 and SPG7 genes. Background: The hereditary spastic paraplegias…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…Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)
Objective: Describe the clinical findings of a Brazilian cohort of SCA2 patients, stratify them according the presence of sub-phenotypes: cognitive deterioration, sensory loss, amiotrophy, parkinsonism…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…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…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.