Etiology
Gorijala P,
Aslam MM,
Dang LT,
Xicota L,
Fernandez MV,
Sung YJ,
Fan KH,
Feingold E,
Surace EI,
Chhatwal JP,
Hom CL;
Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI);
NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators,
Hartley SL,
Hassenstab J,
Perrin RJ,
Mapstone M,
Zaman SH,
Ances BM,
Kamboh MI,
Lee JH,
Cruchaga C
Alzheimers Dement
2024 Feb;20(2):1038-1049.
Epub 2023 Oct 19
doi: 10.1002/alz.13506.
PMID: 37855447Free PMC Article
Paprocka J,
Jezela-Stanek A,
Śmigiel R,
Walczak A,
Mierzewska H,
Kutkowska-Kaźmierczak A,
Płoski R,
Emich-Widera E,
Steinborn B
Genes (Basel)
2023 Apr 25;14(5)
doi: 10.3390/genes14050972.
PMID: 37239332Free PMC Article
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Fagan AM,
Henson RL,
Li Y,
Boerwinkle AH,
Xiong C,
Bateman RJ,
Goate A,
Ances BM,
Doran E,
Christian BT,
Lai F,
Rosas HD,
Schupf N,
Krinsky-McHale S,
Silverman W,
Lee JH,
Klunk WE,
Handen BL,
Allegri RF,
Chhatwal JP,
Day GS,
Graff-Radford NR,
Jucker M,
Levin J,
Martins RN,
Masters CL,
Mori H,
Mummery CJ,
Niimi Y,
Ringman JM,
Salloway S,
Schofield PR,
Shoji M,
Lott IT;
Alzheimer's Biomarker Consortium–Down Syndrome;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2021 Aug;20(8):615-626.
doi: 10.1016/S1474-4422(21)00139-3.
PMID: 34302786Free PMC Article
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article
Diagnosis
Gorijala P,
Aslam MM,
Dang LT,
Xicota L,
Fernandez MV,
Sung YJ,
Fan KH,
Feingold E,
Surace EI,
Chhatwal JP,
Hom CL;
Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI);
NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators,
Hartley SL,
Hassenstab J,
Perrin RJ,
Mapstone M,
Zaman SH,
Ances BM,
Kamboh MI,
Lee JH,
Cruchaga C
Alzheimers Dement
2024 Feb;20(2):1038-1049.
Epub 2023 Oct 19
doi: 10.1002/alz.13506.
PMID: 37855447Free PMC Article
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Saleh S,
Beyyumi E,
Al Kaabi A,
Hertecant J,
Barakat D,
Al Dhaheri NS,
Al-Gazali L,
Al Shamsi A
Clin Genet
2021 Nov;100(5):573-600.
Epub 2021 Aug 19
doi: 10.1111/cge.14044.
PMID: 34374989
Fagan AM,
Henson RL,
Li Y,
Boerwinkle AH,
Xiong C,
Bateman RJ,
Goate A,
Ances BM,
Doran E,
Christian BT,
Lai F,
Rosas HD,
Schupf N,
Krinsky-McHale S,
Silverman W,
Lee JH,
Klunk WE,
Handen BL,
Allegri RF,
Chhatwal JP,
Day GS,
Graff-Radford NR,
Jucker M,
Levin J,
Martins RN,
Masters CL,
Mori H,
Mummery CJ,
Niimi Y,
Ringman JM,
Salloway S,
Schofield PR,
Shoji M,
Lott IT;
Alzheimer's Biomarker Consortium–Down Syndrome;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2021 Aug;20(8):615-626.
doi: 10.1016/S1474-4422(21)00139-3.
PMID: 34302786Free PMC Article
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Therapy
Hetzelt KLML,
Kerling F,
Kraus C,
Rauch C,
Thiel CT,
Winterholler M,
Reis A,
Zweier C
Eur J Med Genet
2021 Jan;64(1):104123.
Epub 2020 Dec 15
doi: 10.1016/j.ejmg.2020.104123.
PMID: 33338668
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Clot F,
Grabli D,
Cazeneuve C,
Roze E,
Castelnau P,
Chabrol B,
Landrieu P,
Nguyen K,
Ponsot G,
Abada M,
Doummar D,
Damier P,
Gil R,
Thobois S,
Ward AJ,
Hutchinson M,
Toutain A,
Picard F,
Camuzat A,
Fedirko E,
Sân C,
Bouteiller D,
LeGuern E,
Durr A,
Vidailhet M,
Brice A;
French Dystonia Network
Brain
2009 Jul;132(Pt 7):1753-63.
Epub 2009 Jun 2
doi: 10.1093/brain/awp084.
PMID: 19491146
Wang SL,
Yang SF,
Chen CC,
Tsai PT,
Chai CY
Kaohsiung J Med Sci
2002 Dec;18(12):622-6.
PMID: 12670038
Prognosis
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Thomas Q,
Gautier T,
Marafi D,
Besnard T,
Willems M,
Moutton S,
Isidor B,
Cogné B,
Conrad S,
Tenconi R,
Iascone M,
Sorlin A,
Masurel A,
Dabir T,
Jackson A,
Banka S,
Delanne J,
Lupski JR,
Saadi NW,
Alkuraya FS,
Zahrani FA,
Agrawal PB,
England E,
Madden JA,
Posey JE,
Burglen L,
Rodriguez D,
Chevarin M,
Nguyen S,
Mau-Them FT,
Duffourd Y,
Garret P,
Bruel AL,
Callier P,
Marle N,
Denomme-Pichon AS,
Duplomb L,
Philippe C,
Thauvin-Robinet C,
Govin J,
Faivre L,
Vitobello A
Genet Med
2021 Oct;23(10):1901-1911.
Epub 2021 Jun 10
doi: 10.1038/s41436-021-01218-6.
PMID: 34113008
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article
Steinlein OK,
Conrad C,
Weidner B
Epilepsy Res
2007 Mar;73(3):245-9.
Epub 2006 Nov 28
doi: 10.1016/j.eplepsyres.2006.10.010.
PMID: 17129708
Clinical prediction guides
Paprocka J,
Jezela-Stanek A,
Śmigiel R,
Walczak A,
Mierzewska H,
Kutkowska-Kaźmierczak A,
Płoski R,
Emich-Widera E,
Steinborn B
Genes (Basel)
2023 Apr 25;14(5)
doi: 10.3390/genes14050972.
PMID: 37239332Free PMC Article
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Thomas Q,
Gautier T,
Marafi D,
Besnard T,
Willems M,
Moutton S,
Isidor B,
Cogné B,
Conrad S,
Tenconi R,
Iascone M,
Sorlin A,
Masurel A,
Dabir T,
Jackson A,
Banka S,
Delanne J,
Lupski JR,
Saadi NW,
Alkuraya FS,
Zahrani FA,
Agrawal PB,
England E,
Madden JA,
Posey JE,
Burglen L,
Rodriguez D,
Chevarin M,
Nguyen S,
Mau-Them FT,
Duffourd Y,
Garret P,
Bruel AL,
Callier P,
Marle N,
Denomme-Pichon AS,
Duplomb L,
Philippe C,
Thauvin-Robinet C,
Govin J,
Faivre L,
Vitobello A
Genet Med
2021 Oct;23(10):1901-1911.
Epub 2021 Jun 10
doi: 10.1038/s41436-021-01218-6.
PMID: 34113008
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article