词条 | Frontotemporal lobar degeneration |
释义 |
| name = Frontotemporal lobar degeneration | image = | caption = A human brain showing frontotemporal lobar degeneration causing frontotemporal dementia. | speciality = Psychiatry, Neurology | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Frontotemporal lobar degeneration (FTLD) is a pathological process that occurs in frontotemporal dementia. It is characterized by atrophy in the frontal lobe and temporal lobe of the brain, with sparing of the parietal and occipital lobes. Common proteinopathies that are found in FTLD include the accumulation of tau proteins and TARDBPs. Mutations in the C9orf72 gene have been established as a major genetic contribution of FTLD, although defects in the GRN and MAPT genes are also associated with it.[1] ClassificationThere are 3 main histological subtypes found at post-mortem:
Two physicians independently categorized the various forms of TDP-43 associated disorders. Both classifications were considered equally valid by the medical community, but the physicians in question have jointly proposed a compromise classification to avoid confusion.[2]
Dementia lacking distinctive histology (DLDH) is a rare and controversial entity. New analyses have allowed many cases previously described as DLDH to be reclassified into one of the positively defined subgroups. GeneticsThere have been numerous advances in descriptions of genetic causes of FTLD, and the related disease amyotrophic lateral sclerosis.
Mutations in all of the above genes cause a very small fraction of the FTLD spectrum. Most of the cases are sporadic (no known genetic cause).
DiagnosisFor diagnostic purposes, magnetic resonance imaging (MRI) and ([18F]fluorodeoxyglucose) positron emission tomography (FDG-PET) are applied. They measure either atrophy or reductions in glucose utilization. The three clinical subtypes of frontotemporal lobar degeneration, frontotemporal dementia, semantic dementia and progressive nonfluent aphasia, are characterized by impairments in specific neural networks.[8] The first subtype with behavioral deficits, frontotemporal dementia, mainly affects a frontomedian network discussed in the context of social cognition. Semantic dementia is mainly related to the inferior temporal poles and amygdalae; brain regions that have been discussed in the context of conceptual knowledge, semantic information processing, and social cognition, whereas progressive nonfluent aphasia affects the whole left frontotemporal network for phonological and syntactical processing. ExamplesUnited States Senator Pete Domenici (R-NM) was a known sufferer of FTLD, and the illness was the main reason behind his October 4, 2007 announcement of retirement at the end of his term. American film director, producer, and screenwriter Curtis Hanson died as a result of FTLD on September 20, 2016. See also
References1. ^{{cite journal|last1=van der Zee|first1=Julie|last2=Van Broeckhoven|first2=Christine|title=Dementia in 2013: Frontotemporal lobar degeneration—building on breakthroughs|journal=Nature Reviews Neurology|date=7 January 2014|volume=10|issue=2|pages=70–72|doi=10.1038/nrneurol.2013.270|url=http://www.nature.com/nrneurol/journal/v10/n2/full/nrneurol.2013.270.html|pmid=24394289}} 2. ^{{cite journal|journal=Acta Neuropathol.|date=July 2011|volume=122|issue=1|pages=111–113|doi=10.1007/s00401-011-0845-8|title=A harmonized classification system for FTLD-TDP pathology|author=Ian R. A. Mackenzie|author2=Manuela Neumann|author3=Atik Baborie|author4=Deepak M. Sampathu|author5=Daniel Du Plessis|author6=Evelyn Jaros|author7=Robert H. Perry|author8=John Q. Trojanowski|author9=David M. A. Mann|author10=Virginia M. Y. Lee|last-author-amp=yes|pmid=21644037|pmc=3285143}} 3. ^{{cite journal | author = Goedert, M.| title = Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. | journal = The EMBO Journal | year = 1989 | volume = 8 | issue = 2 | pages = 393–9 |display-authors=etal| pmid = 2498079 | pmc = 400819 }} 4. ^{{cite journal | author = Cruts, M. | display-authors = etal | title = Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. | journal = Nature | year = 2006 | volume = 442 | issue = 7105 | pages = 920–4 | doi=10.1038/nature05017 | pmid=16862115| bibcode = 2006Natur.442..920C }} 5. ^{{cite journal | author = Kimonis, V.E. | display-authors = etal | title = VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. | journal = Biochim Biophys Acta | year = 2008 | volume = 1782 | issue= 12 | pages= 744–8 | doi=10.1016/j.bbadis.2008.09.003 | pmid=18845250}} 6. ^{{cite journal | author = Borroni, B. | display-authors = etal | title = TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course | journal = Rejuvenation Res | year = 2010 | volume = 13 | issue = 5 | pages = 509–17 | doi=10.1089/rej.2010.1017| pmid = 20645878 }} 7. ^{{cite journal | author = Dejesus-Hernandez, M. | display-authors = etal | title = Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS. | journal = Neuron | year = 2011 | volume = 72 | issue = 2 | pages = 245–56 | doi=10.1016/j.neuron.2011.09.011 | pmid=21944778 | pmc=3202986}} 8. ^{{cite journal|vauthors=Schroeter ML, Raczka KK, Neumann J, von Cramon DY |title= Towards a nosology for frontotemporal lobar degenerations – A meta-analysis involving 267 subjects.|journal=NeuroImage|volume=36|issue=3|pages=497–510|year=2007|pmid=17478101|doi=10.1016/j.neuroimage.2007.03.024}} Bibliography
Further reading
External links{{Medical resources| DiseasesDB = 10034 | ICD10 = {{ICD10|G31.0}} | ICD9 = | ICDO = | OMIM = 600274 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D003704 }}{{CNS diseases of the nervous system}}{{DEFAULTSORT:Frontotemporal Lobar Degeneration}} 5 : Cognitive disorders|Anatomical pathology|Dementia|Frontal lobe|Temporal lobe |
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