Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome
Year: 2017
Type: article
Study design: Case Report
Abstract: Mutations in the granulin ( GRN ) gene on chromosome 17 most commonly result in behavioral variant frontotemporal dementia (FTD) or primary progressive aphasia (PPA), although a wide range of phenotypes have been described.1,2 At the time of publication, 172 mutations have been described ([molgen.vib-ua.be/FTDMutations][1]), 79 of which are thought to be pathogenic, with no clear genotype-phenotype correlation. Here, we describe a novel mutation presenting as a dysexecutive, aphasic dementia and evolving into a corticobasal syndrome (CBS) phenotype. Acknowledgment: The authors thank the patient and her family for participating in aging and dementia research. [1]: http://www.molgen.vib-ua.be/FTDMutations
Source: Neurology Genetics
Institutions: Mayo Clinic, Mayo Clinic in Florida
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,300
Funders: Mayo Clinic, Eli Lilly and Company, Pfizer, Biogen, University of Southern California, Patient-Centered Outcomes Research Institute, ALS Therapy Alliance, Mayo Foundation for Medical Education and Research, Little Family Foundation, American Academy of Clinical Neuropsychology, TauRx Pharmaceuticals, University of Oxford, H. Lundbeck A/S, National Institutes of Health, Genentech, Avid Radiopharmaceuticals, Tau Consortium, National Institute on Aging, National Cancer Institute, National Institute of Neurological Disorders and Stroke
Awards: G3036763132, G4741916379, G5484535055, G650779111, Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS), The Frontotemporal Lobar Degeneration Clinical Research Consortium, Genetic Discovery and Pathobiology of Frontotemporal Lobar Degeneration and Related TDP-43 Proteinopathies, G8374629944, G9000005508, G9000302427, Mayo Alzheimer's Disease Research Center
OpenAlex ID: W2771959232