Influence of disease progression on the quality of life of individuals with spinocerebellar ataxia type 10
Objective: To evaluate quality of life (QoL) of individuals with Spinocerebellar Ataxia Type 10 (SCA10) and investigate whether there is an association between self-perception and…Muscle Ultrasound Comparison Between Early And Intermediate Onset Friedreich’s Ataxia
Objective: Background: Early-onset Friedreich’s Ataxia (FA) concerns a classic pediatric phenotype (p-FA, starting before 18 years of age), characterized by relentlessly progressive ataxia and (cardio)myopathy.…Antisense FMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
Objective: To determine the role of a splice variant of the antisense fragile X mental retardation 1 (ASFMR1) gene, loss of FMR1 AGG interspersions and…Generalized chorea in a patient with isolated leukocytosis and JAK2V617F mutation: A case report
Objective: To describe late-onset generalized chorea in a patient found to have the JAK2V617F mutation without polycythemia vera. Background: Polycythemia vera (PV) is well-known to…Choreaathetosis as clinical manifestation of Fahr Syndrome inTurner Syndrome Patient
Objective: To report choreaathetosis as a clinical manifestation of Fahrs syndrome in Turner Syndrome patient Background: The prevalence of fahr syndrme is 1/1000.000 people. Clinical…Generalized choreoathetoid-like movements in primary Sjögren syndrome
Objective: To report a case of choreoathetoid-like movements associated to primary Sjögren syndrome. Background: Autoimmune diseases are not uncommon causes of movement disorders. Two percent…CASPR2 antibody mediated autoimmune encephalitis presenting with profound chorea
Objective: Describing a rare case of CASPR2 medicated auto immune encephalitis presenting with profound chroea Background: This is a 69 year old retired engineer who…Sydenham’s Chorea: Realities and Challenges in Sub-Saharan Africa
Objective: The aim of this study was to describe the epidemiological, clinical, paraclinical and evolutive aspects of Sydenham's chorea. Background: Sydenham's chorea is a rare…Radiologic Biomarkers of Acute Non-Ketotic Hyperglycemic Chorea: A Systematic Review
Objective: To systematically review the case reports and case series of Acute Non-Ketotic Hyperglycemic Chorea (ANKHC) patients with signal changes in MRI. Background: Acute and…Spinocerebellar Ataxia Type 2 Presenting with Chorea: Korean Cases
Objective: To report cases of SCA2 presenting with chorea, which have not been reported in Korea Background: Spinocerebellar ataxias (SCAs) manifest ethnic and geographical differences…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.