Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Javier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, Renate K Hukema, Nayia Nicolaou, Harro Seelaar, J Roos A de Graaf, Inge de Koning, Natasja M van Schoor, Dorly J H Deeg, Marion Smits, Joost Raaphorst, Leonard H van den Berg, Helenius J Schelhaas, Christine E M De Die-Smulders, Danielle Majoor-Krakauer, Annemieke J M Rozemuller, Rob Willemsen, Yolande A L Pijnenburg, Peter Heutink, John C van Swiete. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300876. |
the hexanucleotide repeat expansion in c9orf72 is an important cause of frontotemporal dementia with and without amyotrophic lateral sclerosis, and is sometimes associated with primary progressive aphasia. |
2012-04-09 |
2023-08-12 |
Not clear |
Ging-Yuek R Hsiung, Mariely DeJesus-Hernandez, Howard H Feldman, Pheth Sengdy, Phoenix Bouchard-Kerr, Emily Dwosh, Rachel Butler, Bonnie Leung, Alice Fok, Nicola J Rutherford, Matt Baker, Rosa Rademakers, Ian R A Mackenzi. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22344582. |
all had involvement of the extramotor neocortex and hippocampus (frontotemporal lobar degeneration-tdp) and all but one case (clinically pure frontotemporal dementia) had involvement of lower motor neurons, characteristic of amyotrophic lateral sclerosis. |
2012-04-09 |
2023-08-12 |
human |
Ging-Yuek R Hsiung, Mariely DeJesus-Hernandez, Howard H Feldman, Pheth Sengdy, Phoenix Bouchard-Kerr, Emily Dwosh, Rachel Butler, Bonnie Leung, Alice Fok, Nicola J Rutherford, Matt Baker, Rosa Rademakers, Ian R A Mackenzi. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22344582. |
our findings indicate that the c9orf72 mutation is a major cause of familial frontotemporal dementia with tdp-43 pathology, that likely accounts for the majority of families with combined frontotemporal dementia/amyotrophic lateral sclerosis presentation, and further support the concept that frontotemporal dementia and amyotrophic lateral sclerosis represent a clinicopathological spectrum of disease with overlapping molecular pathogenesis. |
2012-04-09 |
2023-08-12 |
human |
John Hodge. Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366789. |
familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the c9orf72 hexanucleotide repeat. |
2012-04-09 |
2023-08-12 |
Not clear |
Bradley F Boeve, Kevin B Boylan, Neill R Graff-Radford, Mariely DeJesus-Hernandez, David S Knopman, Otto Pedraza, Prashanthi Vemuri, David Jones, Val Lowe, Melissa E Murray, Dennis W Dickson, Keith A Josephs, Beth K Rush, Mary M Machulda, Julie A Fields, Tanis J Ferman, Matthew Baker, Nicola J Rutherford, Jennifer Adamson, Zbigniew K Wszolek, Anahita Adeli, Rodolfo Savica, Brendon Boot, Karen M Kuntz, Ralitza Gavrilova, Andrew Reeves, Jennifer Whitwell, Kejal Kantarci, Clifford R Jack, Joseph E Parisi, John A Lucas, Ronald C Petersen, Rosa Rademaker. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366793. |
characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the ggggcc repeat expansion in c9orf72. |
2012-04-09 |
2023-08-12 |
human |
Jennifer L Whitwell, Stephen D Weigand, Bradley F Boeve, Matthew L Senjem, Jeffrey L Gunter, Mariely DeJesus-Hernandez, Nicola J Rutherford, Matthew Baker, David S Knopman, Zbigniew K Wszolek, Joseph E Parisi, Dennis W Dickson, Ronald C Petersen, Rosa Rademakers, Clifford R Jack, Keith A Joseph. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366795. |
a major recent discovery was the identification of an expansion of a non-coding ggggcc hexanucleotide repeat in the c9orf72 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis. |
2012-04-09 |
2023-08-12 |
human |
Jennifer L Whitwell, Stephen D Weigand, Bradley F Boeve, Matthew L Senjem, Jeffrey L Gunter, Mariely DeJesus-Hernandez, Nicola J Rutherford, Matthew Baker, David S Knopman, Zbigniew K Wszolek, Joseph E Parisi, Dennis W Dickson, Ronald C Petersen, Rosa Rademakers, Clifford R Jack, Keith A Joseph. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366795. |
a total of 76 subjects, including 56 with a clinical diagnosis of behavioural variant frontotemporal dementia and a mutation in one of these genes (19 with c9orf72 mutations, 25 with tau mutations and 12 with progranulin mutations) and 20 sporadic subjects with behavioural variant frontotemporal dementia (including 50% with amyotrophic lateral sclerosis), with magnetic resonance imaging were included in this study. |
2012-04-09 |
2023-08-12 |
human |
Elisa Majounie, Bryan J Traynor, Adriano Chiò, Gabriella Restagno, Jessica Mandrioli, Michael Benatar, J Paul Taylor, Andrew B Singleto. Mutational analysis of the VCP gene in Parkinson's disease. Neurobiology of aging. vol 33. issue 1. 2012-03-13. PMID:21920633. |
mutations in the valosin-containing protein gene (vcp) have been identified in neurological disorders (inclusion body myopathy--early paget's disease of the bone--frontotemporal dementia and amyotrophic lateral sclerosis) and are thought to play a role in the clearance of abnormally folded proteins. |
2012-03-13 |
2023-08-12 |
Not clear |
Heather Woo. A hexanucleotide repeat expansion in C9ORF72 links amyotrophic lateral sclerosis and frontotemporal dementia. Nature reviews. Neurology. vol 7. issue 11. 2012-02-21. PMID:22009283. |
a hexanucleotide repeat expansion in c9orf72 links amyotrophic lateral sclerosis and frontotemporal dementia. |
2012-02-21 |
2023-08-12 |
Not clear |
M Otto, A C Ludolph, B Landwehrmeyer, H Förstl, J Diehl-Schmid, M Neumann, H A Kretzschmar, M Schroeter, J Kornhuber, A Dane. [German consortium for frontotemporal lobar degeneration]. Der Nervenarzt. vol 82. issue 8. 2012-02-13. PMID:21805118. |
currently we summarize the following diseases under the ftld spectrum: frontotemporal dementia (ftd) as a behavioural variant, primary non-fluent aphasia (pnfa) and semantic dementia as language variants, amyotrophic lateral sclerosis with ftd (als-ftd), corticobasal syndrome (cbs) and progressive supranuclear palsy (psp).from the pathophysiological aspect major progress was made. |
2012-02-13 |
2023-08-12 |
Not clear |
Ian Ra Mackenzie, Rosa Rademakers, Manuela Neuman. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. The Lancet. Neurology. vol 9. issue 10. 2010-10-18. PMID:20864052. |
tdp-43 and fus in amyotrophic lateral sclerosis and frontotemporal dementia. |
2010-10-18 |
2023-08-12 |
Not clear |
Yuu Yamazaki, Tetsuya Takahashi, Masanori Hiji, Takashi Kurashige, Yuishin Izumi, Takemori Yamawaki, Masayasu Matsumot. Immunopositivity for ESCRT-III subunit CHMP2B in granulovacuolar degeneration of neurons in the Alzheimer's disease hippocampus. Neuroscience letters. vol 477. issue 2. 2010-07-29. PMID:20420883. |
mutations in the chmp2b gene are reportedly associated with frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) characterised by accumulation of ubiquitinated protein aggregates in affected neurons, suggesting a relationship between protein accumulation and efficient autophagic degradation. |
2010-07-29 |
2023-08-12 |
Not clear |
Hiroshige Fujishiro, Masato Hasegawa, Tetsuaki Ara. [The molecular pathology of frontotemporal lobar degeneration]. Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica. vol 112. issue 4. 2010-06-22. PMID:20496755. |
familial ftld has been linked to mutations in several genes: the microtubule-associated protein tau (mapt), progranulin (grn), valosin-containing protein (vcp) and charged multivescicular body protein 2b (chmp2b), and genetic locus on chromosome 9p linked to familial amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2010-06-22 |
2023-08-12 |
Not clear |
Parvathi Rudrabhatla, Harish C Pan. Phosphorylation-specific peptidyl-prolyl isomerization of neuronal cytoskeletal proteins by Pin1: implications for therapeutics in neurodegeneration. Journal of Alzheimer's disease : JAD. vol 19. issue 2. 2010-04-06. PMID:20110589. |
this review focuses on the roles of pin1 in neurodegenerative disorders including alzheimer's disease, parkinson's disease, amyotrophic lateral sclerosis, and frontotemporal dementia associated with parkinsonism linked to chromosome 17. |
2010-04-06 |
2023-08-12 |
Not clear |
Hisae Sumi, Shinsuke Kato, Yuko Mochimaru, Harutoshi Fujimura, Masaki Etoh, Saburo Sakod. Nuclear TAR DNA binding protein 43 expression in spinal cord neurons correlates with the clinical course in amyotrophic lateral sclerosis. Journal of neuropathology and experimental neurology. vol 68. issue 1. 2009-04-09. PMID:19104447. |
tar dna binding protein 43 (tdp-43) has been considered a signature protein in frontotemporal dementia and amyotrophic lateral sclerosis (als), but not in als associated with the superoxide dismutase 1 (sod1) gene mutations (als1). |
2009-04-09 |
2023-08-12 |
mouse |
Lionel M Igaz, Linda K Kwong, Yan Xu, Adam C Truax, Kunihiro Uryu, Manuela Neumann, Christopher M Clark, Lauren B Elman, Bruce L Miller, Murray Grossman, Leo F McCluskey, John Q Trojanowski, Virginia M-Y Le. Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. The American journal of pathology. vol 173. issue 1. 2008-07-29. PMID:18535185. |
here, we developed novel n-terminal (n-t) and c-terminal (c-t)-specific tdp-43 antibodies and performed biochemical and immunohistochemical studies to analyze cortical, hippocampal, and spinal cord tissue from frontotemporal dementia with ubiquitin-positive inclusions and amyotrophic lateral sclerosis cases. |
2008-07-29 |
2023-08-12 |
Not clear |
Tor Erik Rusten, Anne Simonse. ESCRT functions in autophagy and associated disease. Cell cycle (Georgetown, Tex.). vol 7. issue 9. 2008-07-18. PMID:18418046. |
mutations in the endosomal sorting complexes required for transport (escrt)-iii subunit chmp2b are associated with frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), both human neurodegenerative diseases characterized by accumulation of ubiquitinated proteins aggregates in affected neurons. |
2008-07-18 |
2023-08-12 |
human |
C Münch, R Meyer, P Linke, T Meyer, A C Ludolph, J Haas, B Hemme. The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis. Acta neurologica Scandinavica. vol 116. issue 4. 2007-12-18. PMID:17824900. |
mutations in the p150 subunit of the axonal transport protein dynactin (dctn1) have been reported in patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2007-12-18 |
2023-08-12 |
Not clear |
Maria Filimonenko, Susanne Stuffers, Camilla Raiborg, Ai Yamamoto, Lene Malerød, Elizabeth M C Fisher, Adrian Isaacs, Andreas Brech, Harald Stenmark, Anne Simonse. Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. The Journal of cell biology. vol 179. issue 3. 2007-12-12. PMID:17984323. |
mutations in the escrt-iii subunit chmp2b were recently associated with frontotemporal dementia and amyotrophic lateral sclerosis (als), neurodegenerative diseases characterized by abnormal ubiquitin-positive protein deposits in affected neurons. |
2007-12-12 |
2023-08-12 |
Not clear |
Christoph Münch, Angela Rosenbohm, Anne-Dorte Sperfeld, Ingo Uttner, Sven Reske, Bernd J Krause, Reinhard Sedlmeier, Thomas Meyer, Clemens O Hanemann, Gabriele Stumm, Albert C Ludolp. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Annals of neurology. vol 58. issue 5. 2006-03-14. PMID:16240349. |
a heterozygous r1101k mutation of the p150 subunit of dynactin (dctn1) is reported in a family with amyotrophic lateral sclerosis (als) and co-occurrence of frontotemporal dementia (ftd). |
2006-03-14 |
2023-08-12 |
human |