A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)
Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalized…Clinical and molecular features of DYT1 primary dystonia in a Peruvian population
Objective: To associate clinical data of dystonia patients with the TOR1-A gene mutation in Peru. Background: DYT1 dystonia is a severe generalized form of early-onset…Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Objective: To describe a family with two siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Background: ECHS1 encodes a mitochondrial…Dystonia, myoclonus, and tremor without epilepsy associated with a mutation in STXBP1
Objective: Describe a presentation of abnormal movements associated with a mutation in STXBP1. Background: STXBP1, or the syntaxin binding protein 1 gene, is involved in…Persistent myoclonic dystonia due to SCL2A1 mutation
Objective: We present a young woman with myoclonic dystonia due to a novel mutation in SCL2A1 gene. Background: Mutations in the SCL2A1 gene can cause…ADCY5 screening in paediatric-onset hyperkinetic movement disorders: Report of three new Italian families
Objective: To report three new cases with pathogenic ADCY5 mutations and describe their clinical phenotype. Background: ADCY5 is a recently identified gene responsible for a…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.