Chorea,dystonia, and tics:lessons learned from the clinical pattern associated with VPS13A disease
Objective: To highlight clinical manifestations of VPS13A disease Background: VPS13A disease causes motor and neuropsychiatric symptoms including dystonia, chorea, tics, and cognitive decline, but can…Compound Heterozygous VPS13A Variants in a Chilean Chorea-Acanthocytosis Patient
Objective: To present a clinical case of a Chilean ChAC patient with a new compound heterozygous VPS13A variant. Background: Neuroacanthocytosis is a group of genetic…Very long time persistent hyperCKemia as the first manifestation of McLeod syndrome
Objective: To present a case of McLeod syndrome (MLS) with isolated muscle involvement for many years, which developed late-onset chorea leading to disease diagnosis. Background:…Normal chorein protein signal on Western blot despite VPS13A mutations in VPS13A disease
Objective: Follow up on patients with strong clinical evidence on VPS13A disease, despite normal chorein band expression in Western blot. Background: VPS13A disease is a…Identification of a novel XK mutation in a Chinese patient with McLeod Syndrome
Objective: To present a new McLeod syndrome patient with a novel XKmutation to expand the current knowledge on this disease. Background: McLeod syndrome is an…Phenomenology and therapeutic strategies in a series of patients with chorea-acanthocytosis
Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.