Chromosome 3 linked frontotemporal dementia (FTD-3)

Gydesen, Susanne; Brown, JM; Brun, Arne; Chakrabarti, Lisa; Gade, Anders; Johannsen, Peter; Rossor, Martin N.; Thusgaard, T; Grove, A. J.; Yancopoulou, Despina; Spillantini, M. G.; Fisher, Elizabeth; Collinge, John; Sørensen, Søren Freiesleben

doi:10.1212/01.wnl.0000034763.54161.1f

Cited by 109 publications

(79 citation statements)

References 43 publications

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“…The early signs are those of bvFTD, with extrapyramidal symptoms developing later, resulting in a clinical picture of CBS (Gydesen et al 2002). In a Danish family with a truncating CHMP2B mutation, the intracytoplasmic inclusions are ubiquitin-positive, but negative for TDP-43 and FUS (Holm et al 2009).…”

Section: Mutations In Chmp2bmentioning

confidence: 99%

Frontotemporal Dementia: Implications for Understanding Alzheimer Disease

Goedert¹,

Ghetti²,

Spillantini³

2011

Cold Spring Harbor Perspectives in Medicine

137

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Section: Mutations In Chmp2bmentioning

confidence: 99%

Frontotemporal Dementia: Implications for Understanding Alzheimer Disease

Goedert¹,

Ghetti²,

Spillantini³

2011

Cold Spring Harbor Perspectives in Medicine

137

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“…The original descriptions of the disease linked to chromosome 3 in a large Danish family emphasized the clinical and pathological overlap with both sporadic and genetic forms of frontotemporal dementia (FTD) [2][3][4] . Patients generally present with changes in personality or behaviour, commonly apathy, restlessness, aggression, poor self-care and altered appetite.…”

Section: Presymptomatic Generalized Brain Atrophy In Frontotemporal Dmentioning

confidence: 99%

“…There are limited descriptions of brain imaging in CHMP2B mutation-associated FTD [4] . In these cases, atrophy appears to be generalized rather than the focal frontal and temporal lobe atrophy typically seen in FTD.…”

Section: Presymptomatic Generalized Brain Atrophy In Frontotemporal Dmentioning

confidence: 99%

Presymptomatic Generalized Brain Atrophy in Frontotemporal Dementia Caused by <i>CHMP2B</i> Mutation

Rohrer¹,

Ahsan²,

Isaacs

et al. 2009

Dement Geriatr Cogn Disord

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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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“…Although the actual gene mutations have not yet been described, other families with related clinical disorders demonstrate linkage to different regions of chromosome 3 (Brown et al 1995(Brown et al , 2004Gydesen et al 2002) and 9 (Hosler et al 2000;Kovach et al 2001;Morita et al 2006).…”

Section: Geneticsmentioning

confidence: 99%

A review on primary progressive aphasia

Léger

Johnson²

2008

NDT

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Primary progressive aphasia (PPA) is a neurodegenerative disease of insidious onset presenting with progressive isolated loss of language function, without signifi cant impairment in other cognitive domains. Current diagnostic criteria require the language dysfunction to remain isolated for at least two years, and to remain the salient feature as the disease progresses, usually to involve other domains such as behavior, executive functions, and judgment. Although PPA in its early stages can usually be differentiated from probable Alzheimer's disease (PRAD) and the behavioral variant of frontotemporal lobar degeneration by the absence of signifi cant changes in memory and behavior, and the preservation of activities daily living, progression of the disease often leads to defi cits more consistent with the latter. Underlying etiologies remain heterogeneous: the neuropathological characteristics associated with frontotemporal lobar degeneration, cortocobasal degeneration, and motor neuron disease are usually found. There is a strong genetic susceptibility with affl iction of fi rst-degree relatives with similar disease in up to 40 to 50% in some series. Pathogenic mutations in genes coding for the proteins tau and progranulin have been isolated. These are leading to a better understanding of the neuropathological mechanisms and hopefully targeted disease-modifying therapy. Current therapy is limited to improving mood symptoms and targeting behavior changes as they develop. Referral to specialized centers where speech therapy, counseling, and education for both patient and caregiver are available may be helpful.

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Chromosome 3 linked frontotemporal dementia (FTD-3)

Cited by 109 publications

References 43 publications

Frontotemporal Dementia: Implications for Understanding Alzheimer Disease

Frontotemporal Dementia: Implications for Understanding Alzheimer Disease

Presymptomatic Generalized Brain Atrophy in Frontotemporal Dementia Caused by <i>CHMP2B</i> Mutation

A review on primary progressive aphasia

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