CHMP2B frontotemporal dementia

Common Name(s)

CHMP2B frontotemporal dementia

CHMP2B frontotemporal dementia is a form of frontotemporal dementia disorders (FTDs). FTDs are caused by degeneration of cells in the front (frontal) or side (temporal) regions of the brain. This form is caused by an error in the CHMP2B gene. CHMP2B FTD primarily affects personality, language and behavior. Symptoms usually begin in a person's 50’s or 60’s and survival after onset of symptoms may range from 3 to 21 years. Changes in personality and behavior are the most common early signs and include inappropriate emotional responses, loss of motivation, lack of personal hygiene, difficulty with social interactions, and restlessness. Speech and language gradually becomes more difficult. A few years after initial symptoms, movement becomes affected which includes tremors, muscle spasms and rigidity. Eventually, affected individuals become unable to walk, communicate or care for themselves. Diagnosis is based on a complete physical and cognitive evaluation and family history. Genetic testing to confirm the genetic change in the DNA may be available. Although there is presently no cure for CHMP2B FTD, research is ongoing. If you or a family member has been diagnosed with CHMP2B FTD, talk with your doctor or specialist about the most current treatment options.

Frontotemporal dementia due to CHMP2B gene changes is a rare cause of FTD. It is inherited or passed through families in an autosomal dominant manner. This means that only one copy of the changed gene is needed to cause the symptoms. In most cases, one parent has the disorder and passes the changed gene onto their child. Since symptoms do not onset until later in life, most affected people do not know they will have the condition until after childbearing years. Each child of an affected individual has a 50% chance of inheriting the condition. A genetic counselor can provide a better understanding of the underlying genetic cause and recurrence risks.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CHMP2B frontotemporal dementia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "CHMP2B frontotemporal dementia" returned 3 free, full-text research articles on human participants. First 3 results:

Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation.
 

Author(s): Yubing Lu, Zhijun Zhang, Danqiong Sun, Sean T Sweeney, Fen-Biao Gao

Journal: Mol. Cell. 2013 Oct;52(2):264-71.

 

Phagophore maturation is a key step in the macroautophagy pathway, which is critical in many important physiological and pathological processes. Here we identified Drosophila N-ethylmaleimide-sensitive fusion protein 2 (dNSF2) and soluble NSF attachment protein (Snap) as strong genetic ...

Last Updated: 11 Nov 2013

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CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines.
 

Author(s): Agnès Belly, Gilles Bodon, Béatrice Blot, Alexandre Bouron, Rémy Sadoul, Yves Goldberg

Journal: J. Cell. Sci.. 2010 Sep;123(Pt 17):2943-54.

 

The highly conserved ESCRT-III complex is responsible for deformation and cleavage of membranes during endosomal trafficking and other cellular activities. In humans, dominant mutations in the ESCRT-III subunit CHMP2B cause frontotemporal dementia (FTD). The decade-long process leading ...

Last Updated: 19 Aug 2010

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Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
 

Author(s): Hazel Urwin, Astrid Authier, Jorgen E Nielsen, Daniel Metcalf, Caroline Powell, Kristina Froud, Denise S Malcolm, Ida Holm, Peter Johannsen, Jeremy Brown, Elizabeth M C Fisher, Julie van der Zee, Marc Bruyland, , Christine Van Broeckhoven, John Collinge, Sebastian Brandner, Clare Futter, Adrian M Isaacs

Journal: Hum. Mol. Genet.. 2010 Jun;19(11):2228-38.

 

Mutations in CHMP2B cause frontotemporal dementia (FTD) in a large Danish pedigree, which is termed FTD linked to chromosome 3 (FTD-3), and also in an unrelated familial FTD patient. CHMP2B is a component of the ESCRT-III complex, which is required for function of the multivesicular ...

Last Updated: 7 May 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "CHMP2B frontotemporal dementia" returned 1 free, full-text review articles on human participants. First 3 results:

Frontotemporal dementia caused by CHMP2B mutations.
 

Author(s): A M Isaacs, P Johannsen, I Holm, J E Nielsen,

Journal: Curr Alzheimer Res. 2011 May;8(3):246-51.

 

CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial ...

Last Updated: 17 Aug 2011

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