R47H TREM2 variant increases risk of typical early‐onset Alzheimer's disease but not of prion or frontotemporal dementia

Author:

Slattery Catherine F.1,Beck Jonathan A.2,Harper Lorna1,Adamson Gary2,Abdi Zeinab1,Uphill James2,Campbell Tracy2,Druyeh Ron2,Mahoney Colin J.1,Rohrer Jonathan D.1,Kenny Janna2,Lowe Jessica2,Leung Kelvin K.1,Barnes Josephine1,Clegg Shona L.1,Blair Melanie1,Nicholas Jennifer M.3,Guerreiro Rita J.4,Rowe James B.5,Ponto Claudia6,Zerr Inga6,Kretzschmar Hans7,Gambetti Pierluigi8,Crutch Sebastian J.1,Warren Jason D.1,Rossor Martin N.1,Fox Nick C.1,Collinge John2,Schott Jonathan M.1,Mead Simon2

Affiliation:

1. Department of Neurodegenerative DiseaseDementia Research Centre, UCL Institute of NeurologyLondonUK

2. Department of Neurodegenerative DiseaseMRC Prion Unit, UCL Institute of NeurologyLondonUK

3. Department of Medical StatisticsLondon School of Hygiene and Tropical MedicineLondonUK

4. Department of Molecular NeuroscienceUCL Institute of NeurologyLondonUK

5. Department of Clinical NeurosciencesCambridge UniversityUK

6. Department of NeurologyClinical Dementia Center, Georg‐August University GöttingenGöttingenGermany

7. Center for Neuropathology and Prion ResearchLudwig‐Maximilians‐University MunichMunichGermany

8. Department of PathologyCase Western Reserve UniversityClevelandOHUSA

Funder

Medical Research Council

Alzheimer's Research

NIHR Queen Square Dementia Biomedical Research Unit

Leonard Wolfson Experimental Neurology Centre

University College London Hospitals NHS Trust Biomedical Research Centre

MRC

Wellcome Trust

Brain Research Trust

Wellcome Trust Senior Clinical Fellowship

NIHR Cambridge Biomedical Research Centre

Publisher

Wiley

Subject

Psychiatry and Mental health,Cellular and Molecular Neuroscience,Geriatrics and Gerontology,Neurology (clinical),Developmental Neuroscience,Health Policy,Epidemiology

Reference39 articles.

1. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia;Hakola H.P.;Acta Psychiatr Scand Suppl,1972

2. A lipid metabolic disease—“membranous lipodystrophy”—an autopsy case demonstrating numerous peculiar membrane‐structures composed of compound lipid in bone and bone marrow and various adipose tissues;Nasu T.;Acta Pathol Jpn,1973

3. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts

4. Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

5. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2

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