The potential modifier effect of C9orf72 DNA methylation in C9ORF72 carriers
Objective: To develop molecular assays for determining the influence of hypermethylation on age of onset for C9ORF72 carriers. Background: Hexanucleotide repeats of GGGGCC in C9ORF72 is…Development of a web-based tool for systematic collection of phenotypes of hereditary movement disorders from medical literature
Objective: To develop a web-based tool to collect phenotypes of heterditary movement disorders. Background: Deep phenotyping, the precise and comprehensive analysis of phenotypic abnormalities, is…Targeted deep sequencing of brain DNA for detection of somatic point mutations in synucleinopathies
Objective: To detect relevant somatic "point mutations" (single nucleotide variants- SNVs) in brain-derived DNA in synucleinopathies. Background: There is increasing recognition that neurons may harbour…GBA1 biomarkers in longitudinal CSF: GCase, Sphingolipids and alpha-synuclein
Objective: To assess the GBA1-pathway-specific biomarker profile in patient-derived CSF. Background: Heterozygous mutations in the GBA1 gene represent the most common genetic risk factor for…Dementia with Lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile
Objective: Whether GBA1 mutations are associated with a CSF alpha-synuclein profile in DLB. Background: Patients with dementia with Lewy bodies (DLB) reveal a variable pathology…Parkinson’s disease Polygenic Risk Factor Scores in Patients with Inflammatory Bowel Disease
Objective: To assess the genetic risk factors for Parkinson’s disease (PD) in a large population of patients with inflammatory bowel disease (IBD), as compared to…A novel TGM6 heterozygous mutation in a patient with cerebellar ataxia
Objective: To report a novel heterozygous missense mutation of TGM6 in a patient with cerebellar ataxia. Background: Mutations in TGM6 have been recently implicated in…The role of LRP10 mutations in Parkinson’s Disease and Dementia with Lewy Bodies
Objective: To test LRP10 in a cohort of Italian patients, with a clinical diagnosis of either Parkinson’s Disease (PD) (n=316) or Dementia with Lewy Bodies…The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study
Objective: To identify genetic causes of paediatric movement disorders in a large multi-ethnic cohort of patients by genetic investigations. Background: Pediatric movement disorders which are…Hereditary and geneological aspects of Parkinson’s disease and essential tremor in people of Uzbek nationality
Objective: To study the genealogic features of Parkinson’s disease and essential tremor in people of Uzbek nationality. Background: Parkinson's disease (PD) and essential tremor (ET)…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.