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…The nucleocytoplasmic transport of ataxin-3 as pathogenic mechanism in spinocerebellar ataxia type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is a neurodegenerative disorder caused by a CAG expansion in the MJD1 gene leading to…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…Biochemical evaluation in patients with suspected ataxia related to CoQ10 deficiency
Objective: To investigate CoQ10 levels through skin fibroblasts in patients with suspected ataxia related to CoQ10 deficiency. Background: CoQ10 deficiency may cause complex forms of…Early clinical features of paraneoplastic cerebellar degeneration: Diagnostic outcomes of adult onset cerebellar ataxia
Objective: To investigate whether there are clinical features that would allow us to segregate between paraneoplastic cerebellar degeneration (PCD) from other adult onset cerebellar ataxia.…Cortical grey matter atrophy in the motor system in Friedreich ataxia: The IMAGE-FRDA study
Objective: To examine the anatomical integrity of the motor cortex in Friedreich ataxia (FRDA). Background: FRDA is an inherited neurodegenerative disorder characterised by progressive gait…Evidence of striatal dopaminergic dysfunction Sydenham’s chorea in remission with (99m)Tc-TRODAT-1 SPECT
Objective: To report the findings of reduced striatal dopamine transporter (DAT) density in patients with Sydenham's chorea (SC) in remission assessed by single-photon emission computed…Juvenile chorea: Diagnostic criterias, prediction of movement disorders
Objective: To determine significant criteria of disease and to predict development of movement disorders depending on severity of disease expression and duration for its promptly…Phenotypic insights into ADCY5-associated disease
Objective: We provide detailed clinical data on seven patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.