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…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…Exome sequencing in dementia with Lewy bodies
Objective: To perform a comprehensive analysis of genes previously implicated in dementia with Lewy bodies (DLB) by exome sequencing of a pathologically confirmed DLB cohort.…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…Phenotype and genotype variability of CACNA1A in a cohort of ataxia in Taiwan
Objective: To study the phenotype and genotype variability of CACNA1A in a cohort of ataxia. Background: CACNA1A gene encodes a voltage-dependent, P/Q type calcium channel…Analysis of MAPT, GRN and C9orf72 genes in progressive supranuclear palsy, corticobasal syndrome and frontotemporal lobar degeneration in Russian population
Objective: To investigate MAPT variants and haplotypes, GRN mutations, and C9orf72 expansion in a cohort of Russian patients with progressive supranuclear palsy (PSP), cotricobasal syndrome…Familial SPG17/distal hereditary motor neuropathy type V– Complicated hereditary spastic paraplegia with many faces
Objective: We present the clinical and genetic results of a SPG17 family with a vast intrafamilial phenotype from subclinical signs to a severe and rapidly…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.