Etiology
Benkirane M,
Bonhomme M,
Morsy H,
Safgren SL,
Marelli C,
Chaussenot A,
Smedley D,
Cipriani V,
de Sainte-Agathe JM,
Ding C,
Larrieu L,
Vestito L,
Margot H,
Lesca G,
Ramond F,
Castrioto A,
Baux D,
Verheijen J,
Sansa E,
Giunti P,
Haetty A,
Bergougnoux A,
Pointaux M,
Ardouin O,
Van Goethem C,
Vincent MC,
Hadjivassiliou M,
Cossée M,
Rouaud T,
Bartsch O,
Freeman WD,
Wierenga KJ,
Klee EW,
Vandrovcova J,
Houlden H,
Debant A,
Koenig M
Brain
2024 Nov 4;147(11):3681-3689.
doi: 10.1093/brain/awae193.
PMID: 38884572
Rezk M,
Pittock SJ,
Kapadia RK,
Knight AM,
Guo Y,
Gupta P,
LaFrance-Corey RG,
Zekeridou A,
McKeon A,
Dasari S,
Mills JR,
Dubey D
Front Immunol
2023;14:1243946.
Epub 2023 Sep 18
doi: 10.3389/fimmu.2023.1243946.
PMID: 37795104Free PMC Article
Synofzik M,
Németh AH
Handb Clin Neurol
2018;155:73-89.
doi: 10.1016/B978-0-444-64189-2.00005-6.
PMID: 29891078
Coutelier M,
Hammer MB,
Stevanin G,
Monin ML,
Davoine CS,
Mochel F,
Labauge P,
Ewenczyk C,
Ding J,
Gibbs JR,
Hannequin D,
Melki J,
Toutain A,
Laugel V,
Forlani S,
Charles P,
Broussolle E,
Thobois S,
Afenjar A,
Anheim M,
Calvas P,
Castelnovo G,
de Broucker T,
Vidailhet M,
Moulignier A,
Ghnassia RT,
Tallaksen C,
Mignot C,
Goizet C,
Le Ber I,
Ollagnon-Roman E,
Pouget J,
Brice A,
Singleton A,
Durr A;
Spastic Paraplegia and Ataxia Network
JAMA Neurol
2018 May 1;75(5):591-599.
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PMID: 29482223Free PMC Article
Storey E
Semin Neurol
2014 Jul;34(3):280-92.
Epub 2014 Sep 5
doi: 10.1055/s-0034-1386766.
PMID: 25192506
Diagnosis
Ghosh Dastidar R,
Banerjee S,
Lal PB,
Ghosh Dastidar S
Mol Neurobiol
2024 Jul;61(7):3788-3808.
Epub 2023 Nov 28
doi: 10.1007/s12035-023-03768-z.
PMID: 38012514Free PMC Article
Synofzik M,
Németh AH
Handb Clin Neurol
2018;155:73-89.
doi: 10.1016/B978-0-444-64189-2.00005-6.
PMID: 29891078
Bereznyakova O,
Dupré N
Handb Clin Neurol
2018;155:191-203.
doi: 10.1016/B978-0-444-64189-2.00012-3.
PMID: 29891058
Coutelier M,
Hammer MB,
Stevanin G,
Monin ML,
Davoine CS,
Mochel F,
Labauge P,
Ewenczyk C,
Ding J,
Gibbs JR,
Hannequin D,
Melki J,
Toutain A,
Laugel V,
Forlani S,
Charles P,
Broussolle E,
Thobois S,
Afenjar A,
Anheim M,
Calvas P,
Castelnovo G,
de Broucker T,
Vidailhet M,
Moulignier A,
Ghnassia RT,
Tallaksen C,
Mignot C,
Goizet C,
Le Ber I,
Ollagnon-Roman E,
Pouget J,
Brice A,
Singleton A,
Durr A;
Spastic Paraplegia and Ataxia Network
JAMA Neurol
2018 May 1;75(5):591-599.
doi: 10.1001/jamaneurol.2017.5121.
PMID: 29482223Free PMC Article
Storey E
Semin Neurol
2014 Jul;34(3):280-92.
Epub 2014 Sep 5
doi: 10.1055/s-0034-1386766.
PMID: 25192506
Therapy
Beichert L,
Seemann J,
Kessler C,
Traschütz A,
Müller D,
Dillmann-Jehn K,
Ricca I,
Satolli S,
Basak NA,
Coarelli G,
Timmann D,
Gagnon C,
van de Warrenburg BPC;
PROSPAX Consortium,
Ilg W,
Synofzik M,
Schüle R
Neurology
2024 Dec 24;103(12):e209887.
Epub 2024 Dec 2
doi: 10.1212/WNL.0000000000209887.
PMID: 39621946Free PMC Article
Traschütz A,
Adarmes-Gómez AD,
Anheim M,
Baets J,
Brais B,
Gagnon C,
Gburek-Augustat J,
Doss S,
Hanağası HA,
Kamm C,
Klivenyi P,
Klockgether T,
Klopstock T,
Minnerop M,
Münchau A,
Renaud M,
Santorelli FM,
Schöls L,
Thieme A,
Vielhaber S,
van de Warrenburg BP,
Zanni G,
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PREPARE Consortium,
Synofzik M
Ann Neurol
2023 Sep;94(3):470-485.
Epub 2023 Jun 12
doi: 10.1002/ana.26712.
PMID: 37243847
Al-Muhaizea MA,
AlQuait L,
AlRasheed A,
AlHarbi S,
Albader AA,
AlMass R,
Albakheet A,
Alhumaidan A,
AlRasheed MM,
Colak D,
Kaya N
Neuromuscul Disord
2020 Jul;30(7):611-615.
Epub 2020 May 15
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PMID: 32616363
Mrissa N,
Belal S,
Hamida CB,
Amouri R,
Turki I,
Mrissa R,
Hamida MB,
Hentati F
Neurology
2000 Apr 11;54(7):1408-14.
doi: 10.1212/wnl.54.7.1408.
PMID: 10751248
Prognosis
Benkirane M,
Bonhomme M,
Morsy H,
Safgren SL,
Marelli C,
Chaussenot A,
Smedley D,
Cipriani V,
de Sainte-Agathe JM,
Ding C,
Larrieu L,
Vestito L,
Margot H,
Lesca G,
Ramond F,
Castrioto A,
Baux D,
Verheijen J,
Sansa E,
Giunti P,
Haetty A,
Bergougnoux A,
Pointaux M,
Ardouin O,
Van Goethem C,
Vincent MC,
Hadjivassiliou M,
Cossée M,
Rouaud T,
Bartsch O,
Freeman WD,
Wierenga KJ,
Klee EW,
Vandrovcova J,
Houlden H,
Debant A,
Koenig M
Brain
2024 Nov 4;147(11):3681-3689.
doi: 10.1093/brain/awae193.
PMID: 38884572
Ghosh Dastidar R,
Banerjee S,
Lal PB,
Ghosh Dastidar S
Mol Neurobiol
2024 Jul;61(7):3788-3808.
Epub 2023 Nov 28
doi: 10.1007/s12035-023-03768-z.
PMID: 38012514Free PMC Article
Rezk M,
Pittock SJ,
Kapadia RK,
Knight AM,
Guo Y,
Gupta P,
LaFrance-Corey RG,
Zekeridou A,
McKeon A,
Dasari S,
Mills JR,
Dubey D
Front Immunol
2023;14:1243946.
Epub 2023 Sep 18
doi: 10.3389/fimmu.2023.1243946.
PMID: 37795104Free PMC Article
Lessard I,
St-Gelais R,
Hébert LJ,
Côté I,
Mathieu J,
Brais B,
Gagnon C
Orphanet J Rare Dis
2021 Oct 14;16(1):432.
doi: 10.1186/s13023-021-02054-2.
PMID: 34649570Free PMC Article
van de Warrenburg BP,
van Gaalen J,
Boesch S,
Burgunder JM,
Dürr A,
Giunti P,
Klockgether T,
Mariotti C,
Pandolfo M,
Riess O
Eur J Neurol
2014 Apr;21(4):552-62.
Epub 2014 Jan 13
doi: 10.1111/ene.12341.
PMID: 24418350
Clinical prediction guides
Benkirane M,
Bonhomme M,
Morsy H,
Safgren SL,
Marelli C,
Chaussenot A,
Smedley D,
Cipriani V,
de Sainte-Agathe JM,
Ding C,
Larrieu L,
Vestito L,
Margot H,
Lesca G,
Ramond F,
Castrioto A,
Baux D,
Verheijen J,
Sansa E,
Giunti P,
Haetty A,
Bergougnoux A,
Pointaux M,
Ardouin O,
Van Goethem C,
Vincent MC,
Hadjivassiliou M,
Cossée M,
Rouaud T,
Bartsch O,
Freeman WD,
Wierenga KJ,
Klee EW,
Vandrovcova J,
Houlden H,
Debant A,
Koenig M
Brain
2024 Nov 4;147(11):3681-3689.
doi: 10.1093/brain/awae193.
PMID: 38884572
Divya KP,
Cherian A,
Dhing HK,
Kumar S,
Thomas B,
Faruq M
Acta Neurol Belg
2024 Apr;124(2):475-484.
Epub 2023 Oct 29
doi: 10.1007/s13760-023-02400-0.
PMID: 37898963
Nanetti L,
Sarto E,
Castaldo A,
Magri S,
Mongelli A,
Rossi Sebastiano D,
Canafoglia L,
Grisoli M,
Malaguti C,
Rivieri F,
D'Amico MC,
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Mariotti C,
Taroni F
J Neurol
2019 Feb;266(2):378-385.
Epub 2018 Dec 4
doi: 10.1007/s00415-018-9141-z.
PMID: 30515630
Minnerop M,
Kurzwelly D,
Wagner H,
Soehn AS,
Reichbauer J,
Tao F,
Rattay TW,
Peitz M,
Rehbach K,
Giorgetti A,
Pyle A,
Thiele H,
Altmüller J,
Timmann D,
Karaca I,
Lennarz M,
Baets J,
Hengel H,
Synofzik M,
Atasu B,
Feely S,
Kennerson M,
Stendel C,
Lindig T,
Gonzalez MA,
Stirnberg R,
Sturm M,
Roeske S,
Jung J,
Bauer P,
Lohmann E,
Herms S,
Heilmann-Heimbach S,
Nicholson G,
Mahanjah M,
Sharkia R,
Carloni P,
Brüstle O,
Klopstock T,
Mathews KD,
Shy ME,
de Jonghe P,
Chinnery PF,
Horvath R,
Kohlhase J,
Schmitt I,
Wolf M,
Greschus S,
Amunts K,
Maier W,
Schöls L,
Nürnberg P,
Zuchner S,
Klockgether T,
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Schüle R
Brain
2017 Jun 1;140(6):1561-1578.
doi: 10.1093/brain/awx095.
PMID: 28459997Free PMC Article
Garcia-Cazorla À,
Mochel F,
Lamari F,
Saudubray JM
J Inherit Metab Dis
2015 Jan;38(1):19-40.
Epub 2014 Nov 21
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PMID: 25413954