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…De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions
Objective: To identify the underlying genetic abnormality in three sporadic unrelated cases presenting with chorea and bilateral striatal abnormalities on cerebral MRI. Background: Chorea is…Development of the UK hereditary spastic paraplegia registry: Analysis of SPAST patients reveals high rate of psychiatric comorbidities
Objective: To (1) describe the genetic variability, phenotype and epidemiology of spastin mutation in HSP patients (2) create the UK HSP register with a focus…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…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…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…Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea
Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…Ninjurin 1 gene D110a single nucleotide polymorphism as a genetic marker for nerve damage leprosy patients from South India
Objective: Analyze the Ninjurin 1 gene single nucleotide polymorphisms in leprosy patients from south India, and the role of the gene in the nerve damage.…Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: Slowly progressive recessive ataxia
Objective: Our objective was to report 3 patients with ataxia and unusually prolonged survival caused by missense mutations in the Zinc finger region of PEX10.…Primary progressive aphasia and frontotemporal dementia in an Irish-American family due to a novel progranulin mutation
Objective: To report the first Irish family with FTLD and a novel granulin (GRN) mutation. Background: Frontotemporal lobar degeneration (FTLD) is the second most common…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.