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 7 free, full-text research articles on human participants. First 3 results:

Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B.
 

Author(s): Yu Zhang, Benjamin Schmid, Nanett K Nikolaisen, Mikkel A Rasmussen, Blanca I Aldana, Mikkel Agger, Kirstine Calloe, Tina C Stummann, Hjalte M Larsen, Troels T Nielsen, Jinrong Huang, Fengping Xu, Xin Liu, Lars Bolund, Morten Meyer, Lasse K Bak, Helle S Waagepetersen, Yonglun Luo, Jørgen E Nielsen, , Bjørn Holst, Christian Clausen, Poul Hyttel, Kristine K Freude

Journal: Stem Cell Reports. 2017 Mar;8(3):648-658.

 

The truncated mutant form of the charged multivesicular body protein 2B (CHMP2B) is causative for frontotemporal dementia linked to chromosome 3 (FTD3). CHMP2B is a constituent of the endosomal sorting complex required for transport (ESCRT) and, when mutated, disrupts endosome-to-lysosome ...

Last Updated: 31 Dec 1969

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Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
 

Author(s): Emma L Clayton, Renzo Mancuso, Troels Tolstrup Nielsen, Sarah Mizielinska, Holly Holmes, Nicholas Powell, Frances Norona, Jytte Overgaard Larsen, Carmelo Milioto, Katherine M Wilson, Mark F Lythgoe, Sebastian Ourselin, Jörgen E Nielsen, Peter Johannsen, Ida Holm, John Collinge, , Peter L Oliver, Diego Gomez-Nicola, Adrian M Isaacs

Journal: Hum. Mol. Genet.. 2017 Mar;26(5):873-887.

 

Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B. We report that transgenic mice expressing endogenous levels of mutant CHMP2B developed late-onset brain volume loss associated with frank neuronal loss ...

Last Updated: 31 Dec 1969

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TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III.
 

Author(s): Mi-Hee Jun, Jeong-Ho Han, Yu-Kyung Lee, Deok-Jin Jang, Bong-Kiun Kaang, Jin-A Lee

Journal:

 

Transmembrane protein 106B (TMEM106B) has been identified as a risk factor for frontotemporal lobar degeneration, which is the second most common form of progressive dementia in people under 65 years of age. Mutations in charged multivesicular body protein 2B (CHMP2B), which is involved ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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