Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Intracranial calcifications and dystonia associated with a novel deletion encompassing SLC20A2 and THAP1
Objective: Describe a case of dystonia and intracranial calcifications associated with a deletion within 8p11.21 Background: Multiple genes located within chromosome 8p11.21 are associated with…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): a Mexican case report.
Objective: To report the first case in Mexico of a patient with generalized dystonia and self-mutilation of the tongue with clinical and radiological diagnosis of…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…Pantotenate kinase associated neurodegeneration (PKAN): Proposal for a clinical rating scale
Objective: To design and validate a quantitative method for the assessment of PKAN patients. Background: Despite advances in the research of novel therapies for PKAN,…An update on genotype-phenotype correlation in X-linked dystonia-parkinsonism (XDP/DYT3)
Objective: To further characterize the severity, movement abnormalities, and disease course in an expanded cohort of subjects and their families with XDP and determine if…Dystonia-deafness syndrome caused by beta -actin gene mutation and the effect of pallidal deep brain stimulation
Objective: To report on two patients with dystonia-deafness syndrome associated with a mutation in the beta actin gene and a positive effect of pallidal deep…DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from southern Italy
Objective: To describe a family with three siblings affected by the combination of dystonia and parkinsonism, as a resulting phenotype of recessive PRKRA mutation. Background:…Novel THAP1 missense mutation leading to focal and segmental dystonia
Objective: We have identified a novel heterozygous missense mutation in THAP1 (DYT6 locus) in a patient suffering from craniocervical and upper limb dystonia. We describe…DYT2 dystonia – Too rare to be found?
Objective: To estimate the frequency of HPCA mutations in Serbian cohort with dystonia. Background: Recently the HPCA gene has been reported as the first putative…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.