Etiology
Bukowska-Olech E,
Glista F,
Dinwiddie A,
Pepler A,
Jamsheer A
Eur J Med Genet
2023 Jan;66(1):104668.
Epub 2022 Nov 13
doi: 10.1016/j.ejmg.2022.104668.
PMID: 36384198
Chelban V,
Alsagob M,
Kloth K,
Chirita-Emandi A,
Vandrovcova J,
Maroofian R,
Davagnanam I,
Bakhtiari S,
AlSayed MD,
Rahbeeni Z,
AlZaidan H,
Malintan NT,
Johannsen J,
Efthymiou S,
Ghayoor Karimiani E,
Mankad K,
Al-Shahrani SA,
Beiraghi Toosi M,
AlShammari M,
Groppa S,
Haridy NA,
AlQuait L,
Qari A,
Huma R,
Salih MA,
Almass R,
Almutairi FB,
Hamad MH,
Alorainy IA,
Ramzan K,
Imtiaz F,
Puiu M,
Kruer MC,
Bierhals T,
Wood NW,
Colak D,
Houlden H,
Kaya N
Eur J Neurol
2020 Feb;27(2):334-342.
Epub 2019 Oct 17
doi: 10.1111/ene.14082.
PMID: 31509304Free PMC Article
Chemin J,
Siquier-Pernet K,
Nicouleau M,
Barcia G,
Ahmad A,
Medina-Cano D,
Hanein S,
Altin N,
Hubert L,
Bole-Feysot C,
Fourage C,
Nitschké P,
Thevenon J,
Rio M,
Blanc P,
Vidal C,
Bahi-Buisson N,
Desguerre I,
Munnich A,
Lyonnet S,
Boddaert N,
Fassi E,
Shinawi M,
Zimmerman H,
Amiel J,
Faivre L,
Colleaux L,
Lory P,
Cantagrel V
Brain
2018 Jul 1;141(7):1998-2013.
doi: 10.1093/brain/awy145.
PMID: 29878067
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Castori M,
Valiante M,
Pascolini G,
Leuzzi V,
Pizzuti A,
Grammatico P
Eur J Med Genet
2013 Oct;56(10):570-6.
Epub 2013 Aug 27
doi: 10.1016/j.ejmg.2013.08.004.
PMID: 23994350
Diagnosis
Kaiyrzhanov R,
Ortigoza-Escobar JD,
Stringer BW,
Ganieva M,
Gowda VK,
Srinivasan VM,
Macaya A,
Laner A,
Onbool E,
Al-Shammari R,
Al-Owain M,
Deconinck N,
Vilain C,
Dontaine P,
Self E,
Akram R,
Hussain G,
Baig SM,
Iqbal J,
Salpietro V,
Neshatdoust M,
Kasiri M,
Yesil G,
Uygur T,
Pysden K,
Berry IR,
Alves CA,
Giacomotto J,
Houlden H,
Maroofian R
Mov Disord
2024 Jun;39(6):983-995.
Epub 2024 Apr 6
doi: 10.1002/mds.29754.
PMID: 38581205
Hsu RH,
Lee CH,
Chien YH,
Lin SP,
Hung MZ,
Chen NC,
Lin YL,
Hwu WL,
Lee NC
Mol Genet Genomic Med
2023 Jun;11(6):e2160.
Epub 2023 Feb 27
doi: 10.1002/mgg3.2160.
PMID: 36849876Free PMC Article
Järvelä I,
Määttä T,
Acharya A,
Leppälä J,
Jhangiani SN,
Arvio M,
Siren A,
Kankuri-Tammilehto M,
Kokkonen H,
Palomäki M,
Varilo T,
Fang M,
Hadley TD,
Jolly A,
Linnankivi T,
Paetau R,
Saarela A,
Kälviäinen R,
Olme J,
Nouel-Saied LM,
Cornejo-Sanchez DM,
Llaci L,
Lupski JR,
Posey JE,
Leal SM,
Schrauwen I
Hum Genet
2021 Jul;140(7):1011-1029.
Epub 2021 Mar 12
doi: 10.1007/s00439-021-02268-1.
PMID: 33710394Free PMC Article
Chelban V,
Alsagob M,
Kloth K,
Chirita-Emandi A,
Vandrovcova J,
Maroofian R,
Davagnanam I,
Bakhtiari S,
AlSayed MD,
Rahbeeni Z,
AlZaidan H,
Malintan NT,
Johannsen J,
Efthymiou S,
Ghayoor Karimiani E,
Mankad K,
Al-Shahrani SA,
Beiraghi Toosi M,
AlShammari M,
Groppa S,
Haridy NA,
AlQuait L,
Qari A,
Huma R,
Salih MA,
Almass R,
Almutairi FB,
Hamad MH,
Alorainy IA,
Ramzan K,
Imtiaz F,
Puiu M,
Kruer MC,
Bierhals T,
Wood NW,
Colak D,
Houlden H,
Kaya N
Eur J Neurol
2020 Feb;27(2):334-342.
Epub 2019 Oct 17
doi: 10.1111/ene.14082.
PMID: 31509304Free PMC Article
Salen G,
Steiner RD
J Inherit Metab Dis
2017 Nov;40(6):771-781.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0093-8.
PMID: 28980151
Therapy
Koyama S,
Okabe Y,
Suzuki Y,
Igari R,
Sato H,
Iseki C,
Tanji K,
Suzuki K,
Ohta Y
BMC Neurol
2022 May 25;22(1):193.
doi: 10.1186/s12883-022-02711-4.
PMID: 35614401Free PMC Article
Okur V,
Cho MT,
van Wijk R,
van Oirschot B,
Picker J,
Coury SA,
Grange D,
Manwaring L,
Krantz I,
Muraresku CC,
Hulick PJ,
May H,
Pierce E,
Place E,
Bujakowska K,
Telegrafi A,
Douglas G,
Monaghan KG,
Begtrup A,
Wilson A,
Retterer K,
Anyane-Yeboa K,
Chung WK
Eur J Hum Genet
2019 Jul;27(7):1081-1089.
Epub 2019 Feb 18
doi: 10.1038/s41431-019-0366-9.
PMID: 30778173Free PMC Article
Salen G,
Steiner RD
J Inherit Metab Dis
2017 Nov;40(6):771-781.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0093-8.
PMID: 28980151
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Suh S,
Kim HK,
Park HD,
Ki CS,
Kim MY,
Jin SM,
Kim SW,
Hur KY,
Kim KW,
Kim JH
Eur J Med Genet
2012 Jan;55(1):71-4.
Epub 2011 Sep 16
doi: 10.1016/j.ejmg.2011.08.003.
PMID: 21958693
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
Chelban V,
Alsagob M,
Kloth K,
Chirita-Emandi A,
Vandrovcova J,
Maroofian R,
Davagnanam I,
Bakhtiari S,
AlSayed MD,
Rahbeeni Z,
AlZaidan H,
Malintan NT,
Johannsen J,
Efthymiou S,
Ghayoor Karimiani E,
Mankad K,
Al-Shahrani SA,
Beiraghi Toosi M,
AlShammari M,
Groppa S,
Haridy NA,
AlQuait L,
Qari A,
Huma R,
Salih MA,
Almass R,
Almutairi FB,
Hamad MH,
Alorainy IA,
Ramzan K,
Imtiaz F,
Puiu M,
Kruer MC,
Bierhals T,
Wood NW,
Colak D,
Houlden H,
Kaya N
Eur J Neurol
2020 Feb;27(2):334-342.
Epub 2019 Oct 17
doi: 10.1111/ene.14082.
PMID: 31509304Free PMC Article
Salen G,
Steiner RD
J Inherit Metab Dis
2017 Nov;40(6):771-781.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0093-8.
PMID: 28980151
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Dimopoulou A,
Fischer B,
Gardeitchik T,
Schröter P,
Kayserili H,
Schlack C,
Li Y,
Brum JM,
Barisic I,
Castori M,
Spaich C,
Fletcher E,
Mahayri Z,
Bhat M,
Girisha KM,
Lachlan K,
Johnson D,
Phadke S,
Gupta N,
Simandlova M,
Kabra M,
David A,
Nijtmans L,
Chitayat D,
Tuysuz B,
Brancati F,
Mundlos S,
Van Maldergem L,
Morava E,
Wollnik B,
Kornak U
Mol Genet Metab
2013 Nov;110(3):352-61.
Epub 2013 Aug 24
doi: 10.1016/j.ymgme.2013.08.009.
PMID: 24035636
Clinical prediction guides
Kaiyrzhanov R,
Ortigoza-Escobar JD,
Stringer BW,
Ganieva M,
Gowda VK,
Srinivasan VM,
Macaya A,
Laner A,
Onbool E,
Al-Shammari R,
Al-Owain M,
Deconinck N,
Vilain C,
Dontaine P,
Self E,
Akram R,
Hussain G,
Baig SM,
Iqbal J,
Salpietro V,
Neshatdoust M,
Kasiri M,
Yesil G,
Uygur T,
Pysden K,
Berry IR,
Alves CA,
Giacomotto J,
Houlden H,
Maroofian R
Mov Disord
2024 Jun;39(6):983-995.
Epub 2024 Apr 6
doi: 10.1002/mds.29754.
PMID: 38581205
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
Dolgin V,
Straussberg R,
Xu R,
Mileva I,
Yogev Y,
Khoury R,
Konen O,
Barhum Y,
Zvulunov A,
Mao C,
Birk OS
Eur J Hum Genet
2019 Nov;27(11):1668-1676.
Epub 2019 Jun 11
doi: 10.1038/s41431-019-0444-z.
PMID: 31186544Free PMC Article
Goto M,
Okada M,
Komaki H,
Sugai K,
Sasaki M,
Noguchi S,
Nonaka I,
Nishino I,
Hayashi YK
Orphanet J Rare Dis
2014 Apr 23;9:58.
doi: 10.1186/1750-1172-9-58.
PMID: 24755310Free PMC Article
Castori M,
Valiante M,
Pascolini G,
Leuzzi V,
Pizzuti A,
Grammatico P
Eur J Med Genet
2013 Oct;56(10):570-6.
Epub 2013 Aug 27
doi: 10.1016/j.ejmg.2013.08.004.
PMID: 23994350