A Swedish family with Paroxysmal Kinesigenic Dyskinesia due to p.Arg217Profs*8 truncation in the proline-rich transmembrane protein 2 gene
Objective: To describe the first Swedish pedigree that fits both clinical criteria for PKD and genetic confirmation for the p.Arg217Profs*8 in the PRRT2 gene. Background: Paroxysmal Kinesigenic…Whole Exome Sequencing (WES) identifies a TUBB4A Mutation in two Saudi siblings with hypomyelinating leukodystrophy associated with atrophy of basal ganglia and cerebellum.
Objective: To highlight the presentation of TUBB4A mutations. Background: Hypomyelinating leukodystrophy, identified in 2002 by magnetic resonance imaging is a rare heterogeneous group of diseases…Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in spastic paraplegia type 4 (SPG4). Background: Mutations in SPG4/SPAST represent…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…Rice bran extract against animal model of Huntington’s disease: Possible role of neurotransmitters
Objective: The present study has been designed to explore the effect of rice bran extract against 3-NP induced neurotoxicity in rats. Background: Huntington’s disease (HD)…Huntington’s disease in the Republic of Tatarstan, epidemiological features
Objective: To evaluate the epidemiological features of Huntington's disease (HD) according to the Centre for Movement Disorders and Botulinum Therapy of Republic of Tatarstan (Centre…)…A retrospective analysis of clinical forms and age of onset of biallelic Huntington disease patients from an Argentinean Center
Objective: To compare AO and clinical presentation in Argentinean bi-allelic (BHD) patients, ie one mutated allele and one either intermediate (IA, 27-35 CAG repeats) or…Down-regulation of miR-9* in the peripheral leukocytes of Huntington’s Disease patients
Objective: To determine whether the alterations of microRNA expression in central nervous tissues can be detected in peripheral leukocytes in Huntington's disease (HD) patients. Background: Huntington’s…The neural correlates of apathy in premanifest and manifest Huntington’s disease: A cross-sectional multimodal imaging study
Objective: To delineate the brain correlates of apathy severity by means of glucose metabolism (18-FDG PET), grey-matter (GM) and white-matter (WM; FA-DTI) changes and relations…Screening of cognitive impairment in Huntington’s disease with the Parkinson’s Disease – Cognitive Rating Scale (PD-CRS)
Objective: To explore the psychometric properties of the PD-CRS as compared to two commonly used measures (the MMSE and the UHDRS Cognitive score) for detecting…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.