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…Myoclonus Dystonia: A report of two rare mutations
Objective: To present the results of genetic analysis of three patients who presented to our clinic with Myoclonus Dystonia. Background: Myoclonus Dystonia (MD) is a…Exome sequencing reveals homozygous mutations in SACS, ATCAY, and MCOLN1 in three Pakistani families with complex dystonia
Objective: To elucidate the genetic cause in Pakistani families with recessively inherited disorders with dystonic features. Background: Dystonia is a movement disorder characterized by sustained…Computational analysis of expression profiling data in a neuronal model of X-linked dystonia-parkinsonism
Objective: To identify differentially expressed genes and enriched gene sets in a neuronal model of X-linked dystonia-parkinsonism (XDP, DYT3). Background: The putative dysfunctional gene in…Association analysis of NALCN polymorphisms rs1338041 and rs61973742 in a Chinese population with isolated cervical dystonia
Objective: The present study was carried out to examine the associations between the two single nucleotide polymorphisms (SNPs) rs1338041 and rs61973742 in the NALCN gene…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.