CHMP2B-related frontotemporal dementia
Última actualización 13 Nov 2023
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CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behaviour, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.
Descripción
CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behaviour, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.
Changes in personality and behaviour are the most common early signs of CHMP2B-related frontotemporal dementia. These changes include inappropriate emotional responses, restlessness, loss of initiative, and neglect of personal hygiene. Affected individuals may overeat sweet foods or place non-food items into their mouths (hyperorality). Additionally, it may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living.
Many people with CHMP2B-related frontotemporal dementia develop progressive problems with speech and language (aphasia). They may have trouble speaking, although they can often understand others' speech and written text. Affected individuals may also have difficulty using numbers (dyscalculia). In the later stages of the disease, many completely lose the ability to communicate.
Several years after signs and symptoms first appear, some people with CHMP2B-related frontotemporal dementia develop problems with movement. These movement abnormalities include rigidity, tremors, uncontrolled muscle tensing (dystonia), and involuntary muscle spasms (myoclonus). As the disease progresses, most affected individuals become unable to walk.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Chromosome 3-linked frontotemporal dementia
DTM1
FTD-3
FTD-CHMP2B
FTD3
Related patient information and medicines
Patient information leaflet
Pérdida de memoria y demencia
Mixed dementia This is a combination of two or more types of dementia; for example, if someone has both Alzheimer's... Lewy body dementia This is a type of dementia caused by lumps of protein in the brain, called Lewy bodies. Frontotemporal dementia This is a type of dementia that causes the frontal and temporal lobes of the brain to shrink and.
Patient information leaflet
Lesiones del lóbulo temporal
Brain tumours may affect th... A serious head injury or a surgical operation to remove a brain tumour may may also cause damage or injury to the temporal lobe. Progressive worsening of language puede ser part of a type of dementia llamado frontotemporal dementia. The temporal lobe can be affected by an infection of the brain (encephalitis) ,.
Patient information leaflet
Causas de la pérdida de memoria y la demencia
Who gets dementia. It is estimated that in 2019, there were almost 885,000 people aged 65 years and over living with dementia in the UK. By 2040 this number is expected to increase to almost 1.6 million. For example, stiffness, slowness of movement and a shuffling walk with difficulty in starting, stopping, and in turning easily. Frontotemporal.
Patient information leaflet
¿Puedo tomar Danazol y Quetiapina juntos?
You will need regular blood tests to monitor your liver function while taking this medicine. Dementia in the elderly Quetiapine must not be used to treat elderly patients with dementia-related psychosis, as it significantly increases the risk of stroke and death in esto group. Heart rhythm disorders (Long QT syndrome) Quetiapine can affect your.
Patient information leaflet
Cuidado al final de la vida
End of life care is a term used to cover the issues you need to think about and plan for, when you are approaching death. In September 2021 the National Institute for Health and Care Excelle... Diagnosis of a condition likely to lead to impairment of capacity or ability to speak - for example, dementia or motor neurone disease. For example, those.
Patient information leaflet
¿Puedo tomar Amlodipina y Quetiapina juntos?
Your doctor may want to monitor your blood pressure more closely when you first start this combination or if your dose is changed. Important precautions Demencia in elderly patients There is an increased risk of stroke and death when quetiapina used to treat dementia-related psychosis in elderly patients. Suicidal thoughts and self-harm Quetiapine.
Lecturas adicionales y referencias
- CHMP2B-related frontotemporal dementia; MedlinePlus, National Library of Medicine.
- Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, Collinge J. Familial non-specific dementia maps to chromosome 3. Hum Mol Genet. 1995 Sep;4(9):1625-8. doi: 10.1093/hmg/4.9.1625.
- Brown J, Gydesen S, Johannsen P, Gade A, Skibinski G, Chakrabarti L, Brun A, Spillantini M, Yancopoulou D, Thusgaard T, Sorensen A, Fisher E, Collinge J; FReJA (Frontotemporal Dementia Research in Jutland Association). Frontotemporal dementia linked to chromosome 3. Dement Geriatr Cogn Disord. 2004;17(4):274-6. doi: 10.1159/000077153.
- Brown J. Chromosome 3-linked frontotemporal dementia. Cell Mol Life Sci. 1998 Sep;54(9):925-7. doi: 10.1007/s000180050222.
- Gydesen S, Brown JM, Brun A, Chakrabarti L, Gade A, Johannsen P, Rossor M, Thusgaard T, Grove A, Yancopoulou D, Spillantini MG, Fisher EM, Collinge J, Sorensen SA. Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology. 2002 Nov 26;59(10):1585-94. doi: 10.1212/01.wnl.0000034763.54161.1f.
- Holm IE, Englund E, Mackenzie IR, Johannsen P, Isaacs AM. A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. J Neuropathol Exp Neurol. 2007 Oct;66(10):884-91. doi: 10.1097/nen.0b013e3181567f02.
- Lindquist SG, Braedgaard H, Svenstrup K, Isaacs AM, Nielsen JE; FReJA Consortium. Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family. Eur J Neurol. 2008 Jul;15(7):667-70. doi: 10.1111/j.1468-1331.2008.02144.x. Epub 2008 May 15.
- Roos P, Holm IE, Nielsen JE, Ejlerskov P, Toft A, Isaacs AM. CHMP2B-Related Frontotemporal Dementia-Amyotrophic Lateral Sclerosis. 2007 Aug 23 [updated 2026 Mar 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1199/
- Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sorensen SA, Gydesen S, Fisher EM, Collinge J. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24.
- van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22.
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