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…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…
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