Negative dystonia of the palate: Mutation in the THAP1 (DYT6) gene found in a 42 years old patient
Objective: To highlight that the new clinical entity called "negative dystonia of the palate" recently described is probably more a new clinical presentation of a…DYT2 screening in early-onset isolated dystonia in Italy
Objective: To assess mutations in HPCA (DYT2) in a cohort of familial and sporadic Italian patients with early-onset dystonia. Background: Mutations in Hippocalcin (HPCA) have…Pallidal deep brain stimulation improves dystonia in Woodhouse-Sakati syndrome
Objective: To describe a patient with a rare genetic disorder, Woodhouse-Sakati Syndrome, treated with deep brain stimulation (DBS) for dystonia. Background: Woodhouse-Sakati Syndrome (WSS) is…Expanding the spectrum of ATP1A3 related disorders: Continuum from alternating hemiplegia of childhood to rapid-onset dystonia parkinsonism?
Objective: To report clinical and molecular features of a family showing intrafamilial phenotypic diversity where a novel ATP1A3 mutation was found. Background: Originally there have…The anatomical basis of genetic dystonia: A multimodal MRI study
Objective: We aimed at investigating structural and functional alterations in asymptomatic (aDYT) and symptomatic dystonia (sDYT) mutation carriers. Background: Most of DYT genotypes follow an…The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?
Objective: To investigate the impact of movement disorder gene panels in clinical practice and the proportion of patients receiving a definite genetic diagnosis through Next…Symptoms of dystonia in a mouse with mutation in Lamb1
Objective: A mouse model that exhibits symptoms appropriate to dystonia will allow investigation underlying circuit abnormalities. Here we tested two hypotheses with the lamb1t mouse:…Mutational analysis of GNAL gene in isolated dystonia patients from Spain
Objective: To study the frequency and spectrum of GNAL genetic variations in a large population of isolated dystonia (DT) patients from Spain. Background: GNAL encodes…White matter connectome in patients with genetic dystonia
Objective: This study investigated structural neural pathways in clinically manifesting and non-manifesting individuals with several dystonia (DYT) genotypes using a network approach. Background: DYT has…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.