Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation

Neurology. 2017 Dec 12;89(24):2503-2505. doi: 10.1212/WNL.0000000000004747. Epub 2017 Nov 15.

Authors

Laura Ghezzi¹, Tiziana Carandini², Andrea Arighi², Chiara Fenoglio², Marina Arcaro², Milena De Riz², Anna M Pietroboni², Giorgio G Fumagalli², Paola Basilico², Alberto Calvi², Marta Scarioni², Annalisa Colombi², Maria Serpente², Giorgio Marotta², Riccardo Benti², Elio Scarpini², Daniela Galimberti²

Affiliations

¹ From University of Milan, Centro Dino Ferrari, Fondazione Ca' Granda, IRCCS Ospedale Policlinico (L.G., T.C., A.A., C.F., M.A., M.D.R., A.M.P., G.G.F., P.B., A.C., M. Scarioni., A.C., M. Serpente, E.S., D.G.), and Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence (G.G.F.), Italy. lauraghezzi@me.com.
² From University of Milan, Centro Dino Ferrari, Fondazione Ca' Granda, IRCCS Ospedale Policlinico (L.G., T.C., A.A., C.F., M.A., M.D.R., A.M.P., G.G.F., P.B., A.C., M. Scarioni., A.C., M. Serpente, E.S., D.G.), and Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence (G.G.F.), Italy.

PMID: 29142083
DOI: 10.1212/WNL.0000000000004747

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Amyloid beta-Peptides / cerebrospinal fluid*
Female
Frontal Lobe / diagnostic imaging
Frontal Lobe / metabolism
Humans
Lipodystrophy / cerebrospinal fluid
Lipodystrophy / diagnostic imaging*
Lipodystrophy / genetics*
Membrane Glycoproteins / genetics*
Mental Status and Dementia Tests
Mutation*
Occipital Lobe / diagnostic imaging
Occipital Lobe / metabolism
Osteochondrodysplasias / cerebrospinal fluid
Osteochondrodysplasias / diagnostic imaging*
Osteochondrodysplasias / genetics*
Receptors, Immunologic / genetics*
Subacute Sclerosing Panencephalitis / cerebrospinal fluid
Subacute Sclerosing Panencephalitis / diagnostic imaging*
Subacute Sclerosing Panencephalitis / genetics*

Substances

Amyloid beta-Peptides
Membrane Glycoproteins
Receptors, Immunologic
TREM2 protein, human

Supplementary concepts

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy