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https://www.readbyqxmd.com/read/27878525/genetics-of-frontotemporal-dementia
#1
REVIEW
Diana A Olszewska, Roisin Lonergan, Emer M Fallon, Tim Lynch
Frontotemporal dementia (FTD) is the second most common cause of dementia following Alzheimer's disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT, GRN and C9orf72 are found in 60% of familial FTD cases. C9orf72 mutations are the most common and account for 25%. Rarer mutations (<5%) occur in other genes such as VPC, CHMP2B, TARDP, FUS, ITM2B, TBK1 and TBP. The diagnosis is often challenging due to symptom overlap with AD and other conditions. We review the genetics, clinical presentations, neuroimaging, neuropathology, animal studies and therapeutic trials in FTD...
December 2016: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/20971753/clinical-genetic-and-pathological-heterogeneity-of-frontotemporal-dementia-a-review
#2
REVIEW
Harro Seelaar, Jonathan D Rohrer, Yolande A L Pijnenburg, Nick C Fox, John C van Swieten
Frontotemporal dementia (FTD) is the second most common young-onset dementia and is clinically characterised by progressive behavioural change, executive dysfunction and language difficulties. Three clinical syndromes, behavioural variant FTD, semantic dementia and progressive non-fluent aphasia, form part of a clinicopathological spectrum named frontotemporal lobar degeneration (FTLD). The classical neuropsychological phenotype of FTD has been enriched by tests exploring Theory of Mind, social cognition and emotional processing...
May 2011: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/20937952/pathological-43-kda-transactivation-response-dna-binding-protein-in-older-adults-with-and-without-severe-mental-illness
#3
Felix Geser, John L Robinson, Joseph A Malunda, Sharon X Xie, Chris M Clark, Linda K Kwong, Paul J Moberg, Erika M Moore, Vivianna M Van Deerlin, Virginia M-Y Lee, Steven E Arnold, John Q Trojanowski
BACKGROUND: Major psychiatric diseases such as schizophrenia and mood disorders have not been linked to a specific pathology, but their clinical features overlap with some aspects of the behavioral variant of frontotemporal lobar degeneration. Although the significance of pathological 43-kDa (transactivation response) DNA-binding protein (TDP-43) for frontotemporal lobar degeneration was appreciated only recently, the prevalence of TDP-43 pathology in patients with severe mental illness vs controls has not been systematically addressed...
October 2010: Archives of Neurology
https://www.readbyqxmd.com/read/20428114/mutations-of-optineurin-in-amyotrophic-lateral-sclerosis
#4
Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, Hidemasa Kato, Yasuhito Watanabe, Yoshimi Kinoshita, Masaki Kamada, Hiroyuki Nodera, Hidenori Suzuki, Osamu Komure, Shinya Matsuura, Keitaro Kobatake, Nobutoshi Morimoto, Koji Abe, Naoki Suzuki, Masashi Aoki, Akihiro Kawata, Takeshi Hirai, Takeo Kato, Kazumasa Ogasawara, Asao Hirano, Toru Takumi, Hirofumi Kusaka, Koichi Hagiwara, Ryuji Kaji, Hideshi Kawakami
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary motor cortex, brainstem and spinal cord. Most cases of ALS are sporadic, but about 10% are familial. Genes known to cause classic familial ALS (FALS) are superoxide dismutase 1 (SOD1), ANG encoding angiogenin, TARDP encoding transactive response (TAR) DNA-binding protein TDP-43 (ref. 4) and fused in sarcoma/translated in liposarcoma (FUS, also known as TLS)...
May 13, 2010: Nature
https://www.readbyqxmd.com/read/19884572/the-heritability-and-genetics-of-frontotemporal-lobar-degeneration
#5
J D Rohrer, R Guerreiro, J Vandrovcova, J Uphill, D Reiman, J Beck, A M Isaacs, A Authier, R Ferrari, N C Fox, I R A Mackenzie, J D Warren, R de Silva, J Holton, T Revesz, J Hardy, S Mead, M N Rossor
BACKGROUND: Frontotemporal lobar degeneration (FTLD) is a genetically and pathologically heterogeneous neurodegenerative disorder. METHODS: We collected blood samples from a cohort of 225 patients with a diagnosis within the FTLD spectrum and examined the heritability of FTLD by giving each patient a family history score, from 1 (a clear autosomal dominant history of FTLD) through to 4 (no family history of dementia). We also looked for mutations in each of the 5 disease-causing genes (MAPT, GRN, VCP, CHMP2B, and TARDP) and the FUS gene, known to cause motor neuron disease...
November 3, 2009: Neurology
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