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…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…
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