| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
most of the heritability in frontotemporal dementia (ftd) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (c9orf72), pathogenic/likely pathogenic variants in progranulin (grn), and microtubule-associated protein tau (mapt) genes. |
2024-06-07 |
2024-06-10 |
human |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
herein, we assessed the frequency of the c9orf72 expansion, pathogenic/likely pathogenic variants in grn and mapt in a well-characterized group of 472 subjects (ftd, alzheimer's disease - ad, mild cognitive impairment - mci, and unspecified dementia - und), recruited in the memory center, neurology clinic, university clinical center of serbia. |
2024-06-07 |
2024-06-10 |
human |
| Lucia A A Giannini, Marjolein Bulk, Boyd Kenkhuis, Ana Rajicic, Shamiram Melhem, Ingrid Hegeman-Kleinn, Lucia Bossoni, Ernst Suidgeest, Elise G P Dopper, John C van Swieten, Louise van der Weerd, Harro Seelaa. Cortical iron accumulation in MAPT- and C9orf 72-associated frontotemporal lobar degeneration. Brain pathology (Zurich, Switzerland). 2023-03-28. PMID:36974379. |
neuroinflammation has been implicated in frontotemporal lobar degeneration (ftld) pathophysiology, including in genetic forms with microtubule-associated protein tau (mapt) mutations (ftld-mapt) or chromosome 9 open reading frame 72 (c9orf72) repeat expansions (ftld-c9orf72). |
2023-03-28 |
2023-08-14 |
Not clear |
| Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. |
recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (ftd) due to microtubule-associated protein tau (mapt), progranulin (grn) and chromosome 9 open reading frame 72 (c9orf72). |
2023-03-10 |
2023-08-14 |
human |
| Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. |
the largest differences were in the cerebellar atrophy (larger extent in c9orf72 expansion group) and more prominent amygdalar volume reduction in the mapt group. |
2023-03-10 |
2023-08-14 |
human |
| Aitana Sogorb-Esteve, Johanna Nilsson, Imogen J Swift, Carolin Heller, Martina Bocchetta, Lucy L Russell, Georgia Peakman, Rhian S Convery, John C van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Johan Gobom, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Jonathan D Rohre. Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. Alzheimer's research & therapy. vol 14. issue 1. 2022-08-31. PMID:36045450. |
approximately a third of frontotemporal dementia (ftd) is genetic with mutations in three genes accounting for most of the inheritance: c9orf72, grn, and mapt. |
2022-08-31 |
2023-08-14 |
Not clear |
| Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Rhian S Convery, Emily Todd, James B Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D Rohre. Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations. Journal of neurology. 2022-03-29. PMID:35348856. |
a third of frontotemporal dementia (ftd) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (mapt), chromosome 9 open reading frame 72 (c9orf72) and progranulin (grn). |
2022-03-29 |
2023-08-13 |
Not clear |
| Nadine Huber, Sonja Korhonen, Dorit Hoffmann, Stina Leskelä, Hannah Rostalski, Anne M Remes, Paavo Honkakoski, Eino Solje, Annakaisa Haapasal. Deficient neurotransmitter systems and synaptic function in frontotemporal lobar degeneration-Insights into disease mechanisms and current therapeutic approaches. Molecular psychiatry. 2021-11-20. PMID:34799692. |
this review summarizes the present knowledge on neurotransmitter system deficits and synaptic dysfunction in model systems and patients harbouring the most common genetic causes of ftld, the hexanucleotide repeat expansion in c9orf72 and mutations in the granulin (grn) and microtubule-associated protein tau (mapt) genes. |
2021-11-20 |
2023-08-13 |
Not clear |
| Mandi Gandelman, Warunee Dansithong, Karla P Figueroa, Sharan Paul, Daniel R Scoles, Stefan M Puls. Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell death and differentiation. vol 27. issue 10. 2021-11-08. PMID:32415281. |
staufen-1 (stau1) is an rna-binding protein that becomes highly overabundant in numerous neurodegenerative disease models, including those carrying mutations in presenilin1 (psen1), microtubule-associated protein tau (mapt), huntingtin (htt), tar dna-binding protein-43 gene (tardbp), or c9orf72. |
2021-11-08 |
2023-08-13 |
Not clear |
| Melanie T Gentry, Maria I Lapid, Jeremy Syrjanen, Kendrick Calvert, Samantha Hughes, Danielle Brushaber, Walter Kremers, Jessica Bove, Patrick Brannelly, Giovanni Coppola, Christina Dheel, Bradley Dickerson, Susan Dickinson, Kelley Faber, Julie Fields, Jamie Fong, Tatiana Foroud, Leah Forsberg, Ralitza Gavrilova, Deb Gearhart, Nupur Ghoshal, Jill Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Murray Grossman, Dana Haley, Hilary Heuer, Ging-Yuek Hsiung, Edward Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, David Knopman, John Kornak, Joel Kramer, Walter Kukull, Diane Lucente, Codrin Lungu, Ian Mackenzie, Masood Manoochehri, Scott McGinnis, Bruce Miller, Rodney Pearlman, Len Petrucelli, Madeline Potter, Rosa Rademakers, Eliana Marisa Ramos, Katherine Rankin, Katya Rascovsky, Pheth Sengdy, Leslie Shaw, Nadine Tatton, Joanne Taylor, Arthur Toga, John Trojanowski, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek, Bradley F Boeve, Adam Boxer, Howard Rose. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 16. issue 8. 2021-08-09. PMID:32656921. |
the longitudinal evaluation of familial frontotemporal dementia subjects evaluates familial frontotemporal lobar degeneration (ftld) kindreds with mapt, grn, or c9orf72 mutations. |
2021-08-09 |
2023-08-13 |
human |
| L Sellami, D Saracino, I Le Be. Genetic forms of frontotemporal lobar degeneration: Current diagnostic approach and new directions in therapeutic strategies. Revue neurologique. vol 176. issue 7-8. 2021-08-06. PMID:32312500. |
three major genes, namely progranulin (grn), c9orf72 and mapt, as well as several less common genes, are responsible for the majority of familial cases and for a significant proportion of sporadic forms, including ftld with or without associated amyotrophic lateral sclerosis and some rarer clinical presentations. |
2021-08-06 |
2023-08-13 |
Not clear |
| Martina Bocchetta, Juan E Iglesias, Mollie Neason, David M Cash, Jason D Warren, Jonathan D Rohre. Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72. Human brain mapping. vol 41. issue 4. 2021-07-23. PMID:31696638. |
stratification was performed by clinical diagnosis (180 behavioural variant ftd (bvftd), 85 semantic variant primary progressive aphasia (svppa), 114 nonfluent variant ppa (nfvppa), 15 ppa not otherwise specified (ppa-nos), and 8 with associated motor neurone disease (ftd-mnd), genetic diagnosis (27 mapt, 28 c9orf72, 18 grn), and pathological confirmation (37 tauopathy, 38 tdp-43opathy, 4 fusopathy). |
2021-07-23 |
2023-08-13 |
Not clear |
| Lucy L Russell, Caroline V Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S Convery, Katrina Moore, David M Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D Warren, Jonathan D Rohre. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex; a journal devoted to the study of the nervous system and behavior. vol 133. 2021-06-21. PMID:33221702. |
facial emotion recognition (fer) and faux pas (fp) recognition tests were used to study social cognition within the genetic frontotemporal dementia initiative (genfi), a large familial ftd cohort of c9orf72, grn, and mapt mutation carriers. |
2021-06-21 |
2023-08-13 |
human |
| Jonathan D Rohrer, Adam L Boxe. The Frontotemporal Dementia Prevention Initiative: Linking Together Genetic Frontotemporal Dementia Cohort Studies. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433872. |
around one-third of frontotemporal dementia (ftd) is autosomal dominant with the major genetic causes being mutations in mapt, grn and c9orf72. |
2021-02-15 |
2023-08-13 |
human |
| Adam M Staffaroni, Sheng-Yang M Goh, Yann Cobigo, Elise Ong, Suzee E Lee, Kaitlin B Casaletto, Amy Wolf, Leah K Forsberg, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Hilary W Heuer, Ging-Yuek R Hsiung, Kejal Kantarci, David S Knopman, Walter K Kremers, Ian R Mackenzie, Bruce L Miller, Otto Pedraza, Katya Rascovsky, M Carmela Tartaglia, Zbigniew K Wszolek, Joel H Kramer, John Kornak, Bradley F Boeve, Adam L Boxer, Howard J Rose. Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants. JAMA network open. vol 3. issue 10. 2021-01-04. PMID:33112398. |
rates of brain atrophy across disease stages in familial frontotemporal dementia associated with mapt, grn, and c9orf72 pathogenic variants. |
2021-01-04 |
2023-08-13 |
Not clear |
| Emma L van der Ende, Lieke H Meeter, Jackie M Poos, Jessica L Panman, Lize C Jiskoot, Elise G P Dopper, Janne M Papma, Frank Jan de Jong, Inge M W Verberk, Charlotte Teunissen, Dimitris Rizopoulos, Carolin Heller, Rhian S Convery, Katrina M Moore, Martina Bocchetta, Mollie Neason, David M Cash, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris Butler, Simon Ducharme, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni B Frisoni, Stefano Cappa, Yolande A L Pijnenburg, Jonathan D Rohrer, John C van Swiete. Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. The Lancet. Neurology. vol 18. issue 12. 2020-06-12. PMID:31701893. |
neurofilament light chain (nfl) is a promising blood biomarker in genetic frontotemporal dementia, with elevated concentrations in symptomatic carriers of mutations in grn, c9orf72, and mapt. |
2020-06-12 |
2023-08-13 |
Not clear |
| James B Row. Parkinsonism in frontotemporal dementias. International review of neurobiology. vol 149. 2020-06-01. PMID:31779815. |
approximately 40% of people with frontotemporal dementia report a family history of dementia, motor neuron disease or parkinsonism, and half of these familial cases are attributed to mutations in three genes (c9orf72, mapt and pgrn). |
2020-06-01 |
2023-08-13 |
Not clear |
| Ethan G Geier, Mathieu Bourdenx, Nadia J Storm, J Nicholas Cochran, Daniel W Sirkis, Ji-Hye Hwang, Luke W Bonham, Eliana Marisa Ramos, Antonio Diaz, Victoria Van Berlo, Deepika Dokuru, Alissa L Nana, Anna Karydas, Maureen E Balestra, Yadong Huang, Silvia P Russo, Salvatore Spina, Lea T Grinberg, William W Seeley, Richard M Myers, Bruce L Miller, Giovanni Coppola, Suzee E Lee, Ana Maria Cuervo, Jennifer S Yokoyam. Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. Acta neuropathologica. vol 137. issue 1. 2020-03-27. PMID:30382371. |
pathogenic variation in mapt, grn, and c9orf72 accounts for at most only half of frontotemporal lobar degeneration (ftld) cases with a family history of neurological disease. |
2020-03-27 |
2023-08-13 |
human |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, c9orf72, grn or mapt, with presymptomatic carriers from families representing those at risk. |
2019-12-10 |
2023-08-13 |
Not clear |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
in the multicentre genetic frontotemporal dementia initiative (genfi) study, we investigated cross-sectional differences in arterial spin labelling mri-based cerebral blood flow between presymptomatic c9orf72, grn or mapt mutation carriers (n = 107) and non-carriers (n = 113), using general linear mixed-effects models and voxel-based analyses. |
2019-12-10 |
2023-08-13 |
Not clear |