Etiology
Sabatelli M,
Cerri F,
Zuccarino R,
Patanella AK,
Bernardo D,
Bisogni G,
Tanel R,
Sansone V,
Filosto M,
Lattante S,
Martello F,
Doronzio PN,
Stano S,
Zanfini BA,
Coccia M,
Costantini EM,
Lizio A,
Lucioli G,
Padovani A,
Merlini GP,
Conte A
J Neurol
2024 Aug;271(8):5177-5186.
Epub 2024 Jun 3
doi: 10.1007/s00415-024-12437-7.
PMID: 38829431
Barba L,
Abu-Rumeileh S,
Halbgebauer S,
Bellomo G,
Paolini Paoletti F,
Gaetani L,
Oeckl P,
Steinacker P,
Massa F,
Parnetti L,
Otto M
Neurology
2023 Jul 4;101(1):e50-e62.
Epub 2023 May 15
doi: 10.1212/WNL.0000000000207371.
PMID: 37188538Free PMC Article
Liu H,
Barthélemy NR,
Ovod V,
Bollinger JG,
He Y,
Chahin SL,
Androff B,
Bateman RJ,
Lucey BP
Alzheimers Dement
2023 Jul;19(7):3055-3064.
Epub 2023 Jan 25
doi: 10.1002/alz.12930.
PMID: 36695437Free PMC Article
Lewczuk P,
Łukaszewicz-Zając M,
Mroczko P,
Kornhuber J
Pharmacol Rep
2020 Jun;72(3):528-542.
Epub 2020 May 8
doi: 10.1007/s43440-020-00107-0.
PMID: 32385624Free PMC Article
Hyland K,
Shoffner J,
Heales SJ
J Inherit Metab Dis
2010 Oct;33(5):563-70.
Epub 2010 Jul 29
doi: 10.1007/s10545-010-9159-6.
PMID: 20668945
Diagnosis
Barba L,
Abu-Rumeileh S,
Halbgebauer S,
Bellomo G,
Paolini Paoletti F,
Gaetani L,
Oeckl P,
Steinacker P,
Massa F,
Parnetti L,
Otto M
Neurology
2023 Jul 4;101(1):e50-e62.
Epub 2023 May 15
doi: 10.1212/WNL.0000000000207371.
PMID: 37188538Free PMC Article
Okuyama T,
Eto Y,
Sakai N,
Nakamura K,
Yamamoto T,
Yamaoka M,
Ikeda T,
So S,
Tanizawa K,
Sonoda H,
Sato Y
Mol Ther
2021 Feb 3;29(2):671-679.
Epub 2020 Sep 30
doi: 10.1016/j.ymthe.2020.09.039.
PMID: 33038326Free PMC Article
Lewczuk P,
Łukaszewicz-Zając M,
Mroczko P,
Kornhuber J
Pharmacol Rep
2020 Jun;72(3):528-542.
Epub 2020 May 8
doi: 10.1007/s43440-020-00107-0.
PMID: 32385624Free PMC Article
Schmid C,
Neidert MC,
Tschopp O,
Sze L,
Bernays RL
J Endocrinol
2013 Nov;219(2):R37-57.
Epub 2013 Nov 1
doi: 10.1530/JOE-13-0285.
PMID: 24096965
Hyland K,
Shoffner J,
Heales SJ
J Inherit Metab Dis
2010 Oct;33(5):563-70.
Epub 2010 Jul 29
doi: 10.1007/s10545-010-9159-6.
PMID: 20668945
Therapy
Morenas-Rodríguez E,
Li Y,
Nuscher B,
Franzmeier N,
Xiong C,
Suárez-Calvet M,
Fagan AM,
Schultz S,
Gordon BA,
Benzinger TLS,
Hassenstab J,
McDade E,
Feederle R,
Karch CM,
Schlepckow K,
Morris JC,
Kleinberger G,
Nellgard B,
Vöglein J,
Blennow K,
Zetterberg H,
Ewers M,
Jucker M,
Levin J,
Bateman RJ,
Haass C;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2022 Apr;21(4):329-341.
doi: 10.1016/S1474-4422(22)00027-8.
PMID: 35305339Free PMC Article
Miller T,
Cudkowicz M,
Shaw PJ,
Andersen PM,
Atassi N,
Bucelli RC,
Genge A,
Glass J,
Ladha S,
Ludolph AL,
Maragakis NJ,
McDermott CJ,
Pestronk A,
Ravits J,
Salachas F,
Trudell R,
Van Damme P,
Zinman L,
Bennett CF,
Lane R,
Sandrock A,
Runz H,
Graham D,
Houshyar H,
McCampbell A,
Nestorov I,
Chang I,
McNeill M,
Fanning L,
Fradette S,
Ferguson TA
N Engl J Med
2020 Jul 9;383(2):109-119.
doi: 10.1056/NEJMoa2003715.
PMID: 32640130
Mullin S,
Smith L,
Lee K,
D'Souza G,
Woodgate P,
Elflein J,
Hällqvist J,
Toffoli M,
Streeter A,
Hosking J,
Heywood WE,
Khengar R,
Campbell P,
Hehir J,
Cable S,
Mills K,
Zetterberg H,
Limousin P,
Libri V,
Foltynie T,
Schapira AHV
JAMA Neurol
2020 Apr 1;77(4):427-434.
doi: 10.1001/jamaneurol.2019.4611.
PMID: 31930374Free PMC Article
Yang BB,
Kido A
Clin Pharmacokinet
2011 May;50(5):295-306.
doi: 10.2165/11586040-000000000-00000.
PMID: 21456630
Hyland K,
Shoffner J,
Heales SJ
J Inherit Metab Dis
2010 Oct;33(5):563-70.
Epub 2010 Jul 29
doi: 10.1007/s10545-010-9159-6.
PMID: 20668945
Prognosis
Sabatelli M,
Cerri F,
Zuccarino R,
Patanella AK,
Bernardo D,
Bisogni G,
Tanel R,
Sansone V,
Filosto M,
Lattante S,
Martello F,
Doronzio PN,
Stano S,
Zanfini BA,
Coccia M,
Costantini EM,
Lizio A,
Lucioli G,
Padovani A,
Merlini GP,
Conte A
J Neurol
2024 Aug;271(8):5177-5186.
Epub 2024 Jun 3
doi: 10.1007/s00415-024-12437-7.
PMID: 38829431
Morenas-Rodríguez E,
Li Y,
Nuscher B,
Franzmeier N,
Xiong C,
Suárez-Calvet M,
Fagan AM,
Schultz S,
Gordon BA,
Benzinger TLS,
Hassenstab J,
McDade E,
Feederle R,
Karch CM,
Schlepckow K,
Morris JC,
Kleinberger G,
Nellgard B,
Vöglein J,
Blennow K,
Zetterberg H,
Ewers M,
Jucker M,
Levin J,
Bateman RJ,
Haass C;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2022 Apr;21(4):329-341.
doi: 10.1016/S1474-4422(22)00027-8.
PMID: 35305339Free PMC Article
Lewczuk P,
Łukaszewicz-Zając M,
Mroczko P,
Kornhuber J
Pharmacol Rep
2020 Jun;72(3):528-542.
Epub 2020 May 8
doi: 10.1007/s43440-020-00107-0.
PMID: 32385624Free PMC Article
Patel G,
Greenberger PA
Allergy Asthma Proc
2019 Nov 1;40(6):421-424.
doi: 10.2500/aap.2019.40.4262.
PMID: 31690385
Yang BB,
Kido A
Clin Pharmacokinet
2011 May;50(5):295-306.
doi: 10.2165/11586040-000000000-00000.
PMID: 21456630
Clinical prediction guides
Sabatelli M,
Cerri F,
Zuccarino R,
Patanella AK,
Bernardo D,
Bisogni G,
Tanel R,
Sansone V,
Filosto M,
Lattante S,
Martello F,
Doronzio PN,
Stano S,
Zanfini BA,
Coccia M,
Costantini EM,
Lizio A,
Lucioli G,
Padovani A,
Merlini GP,
Conte A
J Neurol
2024 Aug;271(8):5177-5186.
Epub 2024 Jun 3
doi: 10.1007/s00415-024-12437-7.
PMID: 38829431
Bellomo G,
Paciotti S,
Concha-Marambio L,
Rizzo D,
Wojdaƚa AL,
Chiasserini D,
Gatticchi L,
Cerofolini L,
Giuntini S,
De Luca CMG,
Ma Y,
Farris CM,
Pieraccini G,
Bologna S,
Filidei M,
Ravera E,
Lelli M,
Moda F,
Fragai M,
Parnetti L,
Luchinat C
Mol Neurodegener
2023 Apr 1;18(1):20.
doi: 10.1186/s13024-023-00613-8.
PMID: 37005644Free PMC Article
Piazza F,
Caminiti SP,
Zedde M,
Presotto L,
DiFrancesco JC,
Pascarella R,
Giossi A,
Sessa M,
Poli L,
Basso G,
Perani D
Neurology
2022 Sep 20;99(12):e1265-e1277.
Epub 2022 Aug 8
doi: 10.1212/WNL.0000000000200892.
PMID: 35940900Free PMC Article
Morenas-Rodríguez E,
Li Y,
Nuscher B,
Franzmeier N,
Xiong C,
Suárez-Calvet M,
Fagan AM,
Schultz S,
Gordon BA,
Benzinger TLS,
Hassenstab J,
McDade E,
Feederle R,
Karch CM,
Schlepckow K,
Morris JC,
Kleinberger G,
Nellgard B,
Vöglein J,
Blennow K,
Zetterberg H,
Ewers M,
Jucker M,
Levin J,
Bateman RJ,
Haass C;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2022 Apr;21(4):329-341.
doi: 10.1016/S1474-4422(22)00027-8.
PMID: 35305339Free PMC Article
Yang BB,
Kido A
Clin Pharmacokinet
2011 May;50(5):295-306.
doi: 10.2165/11586040-000000000-00000.
PMID: 21456630