Etiology
Pedroso JL,
Vale TC,
Freitas JL,
Araújo FMM,
Meira AT,
Neto PB,
França MC Junior,
Tumas V,
Teive HAG,
Barsottini OGP
Arq Neuropsiquiatr
2023 Nov;81(11):1000-1007.
Epub 2023 Nov 30
doi: 10.1055/s-0043-1777005.
PMID: 38035585Free PMC Article
Jellinger KA
J Neural Transm (Vienna)
2022 Jun;129(5-6):521-543.
Epub 2021 Aug 7
doi: 10.1007/s00702-021-02392-2.
PMID: 34363531
Traschütz A,
Cortese A,
Reich S,
Dominik N,
Faber J,
Jacobi H,
Hartmann AM,
Rujescu D,
Montaut S,
Echaniz-Laguna A,
Erer S,
Schütz VC,
Tarnutzer AA,
Sturm M,
Haack TB,
Vaucamps-Diedhiou N,
Puccio H,
Schöls L,
Klockgether T,
van de Warrenburg BP,
Paucar M,
Timmann D,
Hilgers RD,
Gazulla J,
Strupp M,
Moris G,
Filla A,
Houlden H,
Anheim M,
Infante J,
Basak AN,
Synofzik M;
RFC1 Study Group
Neurology
2021 Mar 2;96(9):e1369-e1382.
Epub 2021 Jan 25
doi: 10.1212/WNL.0000000000011528.
PMID: 33495376Free PMC Article
Ercoli T,
Defazio G,
Muroni A
Cerebellum
2019 Oct;18(5):932-940.
doi: 10.1007/s12311-019-01059-9.
PMID: 31388971
Perlman SL
Handb Clin Neurol
2011;100:113-40.
doi: 10.1016/B978-0-444-52014-2.00006-9.
PMID: 21496573
Diagnosis
Pedroso JL,
Vale TC,
Freitas JL,
Araújo FMM,
Meira AT,
Neto PB,
França MC Junior,
Tumas V,
Teive HAG,
Barsottini OGP
Arq Neuropsiquiatr
2023 Nov;81(11):1000-1007.
Epub 2023 Nov 30
doi: 10.1055/s-0043-1777005.
PMID: 38035585Free PMC Article
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article
Jellinger KA
J Neural Transm (Vienna)
2022 Jun;129(5-6):521-543.
Epub 2021 Aug 7
doi: 10.1007/s00702-021-02392-2.
PMID: 34363531
Traschütz A,
Cortese A,
Reich S,
Dominik N,
Faber J,
Jacobi H,
Hartmann AM,
Rujescu D,
Montaut S,
Echaniz-Laguna A,
Erer S,
Schütz VC,
Tarnutzer AA,
Sturm M,
Haack TB,
Vaucamps-Diedhiou N,
Puccio H,
Schöls L,
Klockgether T,
van de Warrenburg BP,
Paucar M,
Timmann D,
Hilgers RD,
Gazulla J,
Strupp M,
Moris G,
Filla A,
Houlden H,
Anheim M,
Infante J,
Basak AN,
Synofzik M;
RFC1 Study Group
Neurology
2021 Mar 2;96(9):e1369-e1382.
Epub 2021 Jan 25
doi: 10.1212/WNL.0000000000011528.
PMID: 33495376Free PMC Article
Perlman SL
Handb Clin Neurol
2011;100:113-40.
doi: 10.1016/B978-0-444-52014-2.00006-9.
PMID: 21496573
Therapy
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Traschütz A,
Cortese A,
Reich S,
Dominik N,
Faber J,
Jacobi H,
Hartmann AM,
Rujescu D,
Montaut S,
Echaniz-Laguna A,
Erer S,
Schütz VC,
Tarnutzer AA,
Sturm M,
Haack TB,
Vaucamps-Diedhiou N,
Puccio H,
Schöls L,
Klockgether T,
van de Warrenburg BP,
Paucar M,
Timmann D,
Hilgers RD,
Gazulla J,
Strupp M,
Moris G,
Filla A,
Houlden H,
Anheim M,
Infante J,
Basak AN,
Synofzik M;
RFC1 Study Group
Neurology
2021 Mar 2;96(9):e1369-e1382.
Epub 2021 Jan 25
doi: 10.1212/WNL.0000000000011528.
PMID: 33495376Free PMC Article
Traschütz A,
Schirinzi T,
Laugwitz L,
Murray NH,
Bingman CA,
Reich S,
Kern J,
Heinzmann A,
Vasco G,
Bertini E,
Zanni G,
Durr A,
Magri S,
Taroni F,
Malandrini A,
Baets J,
de Jonghe P,
de Ridder W,
Bereau M,
Demuth S,
Ganos C,
Basak AN,
Hanagasi H,
Kurul SH,
Bender B,
Schöls L,
Grasshoff U,
Klopstock T,
Horvath R,
van de Warrenburg B,
Burglen L,
Rougeot C,
Ewenczyk C,
Koenig M,
Santorelli FM,
Anheim M,
Munhoz RP,
Haack T,
Distelmaier F,
Pagliarini DJ,
Puccio H,
Synofzik M
Ann Neurol
2020 Aug;88(2):251-263.
Epub 2020 Jun 10
doi: 10.1002/ana.25751.
PMID: 32337771Free PMC Article
Nunes MB,
Martinez AR,
Rezende TJ,
Friedman JH,
Lopes-Cendes I,
D'Abreu A,
França MC Jr
Parkinsonism Relat Disord
2015 Dec;21(12):1441-7.
Epub 2015 Oct 30
doi: 10.1016/j.parkreldis.2015.10.016.
PMID: 26552869
Gazulla J,
Ruiz-Gazulla C,
Tintore M
Curr Pharm Des
2015;21(34):4989-95.
doi: 10.2174/1381612821666150914120923.
PMID: 26365142
Prognosis
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Traschütz A,
Cortese A,
Reich S,
Dominik N,
Faber J,
Jacobi H,
Hartmann AM,
Rujescu D,
Montaut S,
Echaniz-Laguna A,
Erer S,
Schütz VC,
Tarnutzer AA,
Sturm M,
Haack TB,
Vaucamps-Diedhiou N,
Puccio H,
Schöls L,
Klockgether T,
van de Warrenburg BP,
Paucar M,
Timmann D,
Hilgers RD,
Gazulla J,
Strupp M,
Moris G,
Filla A,
Houlden H,
Anheim M,
Infante J,
Basak AN,
Synofzik M;
RFC1 Study Group
Neurology
2021 Mar 2;96(9):e1369-e1382.
Epub 2021 Jan 25
doi: 10.1212/WNL.0000000000011528.
PMID: 33495376Free PMC Article
Ercoli T,
Defazio G,
Muroni A
Cerebellum
2019 Oct;18(5):932-940.
doi: 10.1007/s12311-019-01059-9.
PMID: 31388971
Rohrer G,
Höglinger GU,
Levin J
Auton Neurosci
2018 May;211:26-30.
Epub 2017 Oct 27
doi: 10.1016/j.autneu.2017.10.006.
PMID: 29104019
Clinical prediction guides
Pedroso JL,
Vale TC,
Freitas JL,
Araújo FMM,
Meira AT,
Neto PB,
França MC Junior,
Tumas V,
Teive HAG,
Barsottini OGP
Arq Neuropsiquiatr
2023 Nov;81(11):1000-1007.
Epub 2023 Nov 30
doi: 10.1055/s-0043-1777005.
PMID: 38035585Free PMC Article
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Traschütz A,
Cortese A,
Reich S,
Dominik N,
Faber J,
Jacobi H,
Hartmann AM,
Rujescu D,
Montaut S,
Echaniz-Laguna A,
Erer S,
Schütz VC,
Tarnutzer AA,
Sturm M,
Haack TB,
Vaucamps-Diedhiou N,
Puccio H,
Schöls L,
Klockgether T,
van de Warrenburg BP,
Paucar M,
Timmann D,
Hilgers RD,
Gazulla J,
Strupp M,
Moris G,
Filla A,
Houlden H,
Anheim M,
Infante J,
Basak AN,
Synofzik M;
RFC1 Study Group
Neurology
2021 Mar 2;96(9):e1369-e1382.
Epub 2021 Jan 25
doi: 10.1212/WNL.0000000000011528.
PMID: 33495376Free PMC Article
Ercoli T,
Defazio G,
Muroni A
Cerebellum
2019 Oct;18(5):932-940.
doi: 10.1007/s12311-019-01059-9.
PMID: 31388971