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Presymptomatic Generalized Brain Atrophy in Frontotemporal Dementia Caused by CHMP2B Mutation

Rohrer J.D.a · Ahsan R.L.a · Isaacs A.M.b · Nielsen J.E.c, d · Ostergaard L.e · Scahill R.a · Warren J.D.a · Rossor M.N.a · Fox N.C.a · Johannsen P.c
aDementia Research Centre and bMRC Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, University College, London, UK; cMemory Disorder Research Group, Rigshospitalet, Copenhagen University Hospital, and dICMM, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, and eCentre for Functionally Integrated Neuroscience, Aarhus University Hospital, Aarhus, Denmark Dement Geriatr Cogn Disord 2009;27:182–186 (DOI:10.1159/000200466)


Background/Aims:CHMP2B mutations are a rare cause of familial frontotemporal dementia (FTD). The clinical syndrome is dominated by personality change and behavioural symptoms, but language, memory, calculation and praxis impairments are also seen early in the course of the disease. There are no detailed studies of brain imaging in CHMP2B mutation-associated FTD. This study aimed to investigate whether there were early or presymptomatic changes in this group of patients. Methods: Subjects comprised 16 members of a Danish family with CHMP2B mutation-associated FTD. Nine subjects were presymptomatic mutation carriers with a control group of 7 mutation-negative family members. Volumetric MRI brain scans were performed on all subjects at two time points, and rates of volume change were compared between the two groups. Results: We demonstrate that generalized atrophy occurs presymptomatically in CHMP2B gene mutation carriers. Conclusions: This finding suggests that mutations in CHMP2B have widespread effects throughout the brain, leading to a neuro-anatomical signature distinct from other diseases in the frontotemporal lobar degeneration spectrum.


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