Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7
Objective: To describe a case of spasmodic dysphonia associated with hereditary spastic paraplegia (HSP) type 7. Background: HSP is a heterogeneous group of inherited disorders…An unusual presentation of tyrosine hydroxylase deficiency
Objective: To discuss a case of tyrosine hydroxylase deficiency presenting with resolution of symptoms on levodopa except for a dynamic segmental dystonia Background: Dopa-responsive dystonia…First Reported Case of Parkinsonism in a Patient with Argininosuccinate Lyase Deficiency
Objective: The purpose of this case report is to detail the phenotype of parkinsonism encountered in a patient with Argininosuccinate Lyase Deficiency (ASLD) that has…TAF1 and its isoforms is underexpressed in different endogenous models of X-linked dystonia-parkinsonism
Objective: To study the expression of TAF1 and its isoforms in different endogenous models of X-linked dystonia-parkinsonism (XDP). Background: The putative gene causing XDP, the…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.