3 documents found, page 1 of 1
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort
Vollstedt, Eva‐Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, MarieBackground: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objectiv...
Age at symptom onset and death and disease duration in genetic frontotemporal d...
Moore, Katrina M.; Nicholas, Jennifer; Grossman, Murray; McMillan, Corey T.; Irwin, David J.; Massimo, Lauren; Van Deerlin, Vivianna M.Background: Frontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT,...
NOTCH3 variants and risk of ischemic stroke
Ross, Owen A.; Soto-Ortolaza, Alexandra I.; Heckman, Michael G.; Verbeeck, Christophe; Serie, Daniel J.; Rayaprolu, Sruti; Rich, Stephen S.Background: Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or loss of a cysteine amino acid. The role of other exonic NOTCH3 variation not involving cysteine residues and mutations in exons 25-33 in ischemic stroke remains u...