Etiology
Satolli S,
Rossi S,
Vegezzi E,
Pellerin D,
Manca ML,
Barghigiani M,
Battisti C,
Bilancieri G,
Bruno G,
Capacci E,
Casali C,
Ceravolo R,
Cocozza S,
Cotti Piccinelli S,
Criscuolo C,
Danzi MC,
De Micco R,
De Michele G,
Dicaire MJ,
Falcone GMI,
Fancellu R,
Ferchichi Y,
Ferrari C,
Filla A,
Fini N,
Govoni A,
Lo Vecchio F,
Malandrini A,
Mignarri A,
Musumeci O,
Nesti C,
Pappatà S,
Pellecchia MT,
Perna A,
Petrucci A,
Pomponi MG,
Ravenni R,
Ricca I,
Rufa A,
Tabolacci E,
Tessa A,
Tessitore A,
Zuchner S,
Silvestri G,
Cortese A,
Brais B,
Santorelli FM
J Neurol
2024 Aug;271(8):5478-5488.
Epub 2024 Jun 17
doi: 10.1007/s00415-024-12506-x.
PMID: 38886208
Wirth T,
Clément G,
Delvallée C,
Bonnet C,
Bogdan T,
Iosif A,
Schalk A,
Chanson JB,
Pellerin D,
Brais B,
Roth V,
Wandzel M,
Fleury MC,
Piton A,
Calmels N,
Namer IJ,
Kremer S,
Tranchant C,
Renaud M,
Anheim M
Mov Disord
2023 Oct;38(10):1950-1956.
Epub 2023 Jul 20
doi: 10.1002/mds.29560.
PMID: 37470282
Slapik M,
Kronemer SI,
Morgan O,
Bloes R,
Lieberman S,
Mandel J,
Rosenthal L,
Marvel C
Cerebellum
2019 Feb;18(1):33-46.
doi: 10.1007/s12311-018-0948-z.
PMID: 29949096
Orr HT
J Cell Biol
2012 Apr 16;197(2):167-77.
doi: 10.1083/jcb.201105092.
PMID: 22508507Free PMC Article
Donato SD,
Mariotti C,
Taroni F
Handb Clin Neurol
2012;103:399-421.
doi: 10.1016/B978-0-444-51892-7.00025-5.
PMID: 21827903
Diagnosis
Satolli S,
Rossi S,
Vegezzi E,
Pellerin D,
Manca ML,
Barghigiani M,
Battisti C,
Bilancieri G,
Bruno G,
Capacci E,
Casali C,
Ceravolo R,
Cocozza S,
Cotti Piccinelli S,
Criscuolo C,
Danzi MC,
De Micco R,
De Michele G,
Dicaire MJ,
Falcone GMI,
Fancellu R,
Ferchichi Y,
Ferrari C,
Filla A,
Fini N,
Govoni A,
Lo Vecchio F,
Malandrini A,
Mignarri A,
Musumeci O,
Nesti C,
Pappatà S,
Pellecchia MT,
Perna A,
Petrucci A,
Pomponi MG,
Ravenni R,
Ricca I,
Rufa A,
Tabolacci E,
Tessa A,
Tessitore A,
Zuchner S,
Silvestri G,
Cortese A,
Brais B,
Santorelli FM
J Neurol
2024 Aug;271(8):5478-5488.
Epub 2024 Jun 17
doi: 10.1007/s00415-024-12506-x.
PMID: 38886208
Wirth T,
Clément G,
Delvallée C,
Bonnet C,
Bogdan T,
Iosif A,
Schalk A,
Chanson JB,
Pellerin D,
Brais B,
Roth V,
Wandzel M,
Fleury MC,
Piton A,
Calmels N,
Namer IJ,
Kremer S,
Tranchant C,
Renaud M,
Anheim M
Mov Disord
2023 Oct;38(10):1950-1956.
Epub 2023 Jul 20
doi: 10.1002/mds.29560.
PMID: 37470282
Coutelier M,
Jacoupy M,
Janer A,
Renaud F,
Auger N,
Saripella GV,
Ancien F,
Pucci F,
Rooman M,
Gilis D,
Larivière R,
Sgarioto N,
Valter R,
Guillot-Noel L,
Le Ber I,
Sayah S,
Charles P,
Nümann A,
Pauly MG,
Helmchen C,
Deininger N,
Haack TB,
Brais B,
Brice A,
Trégouët DA,
El Hachimi KH,
Shoubridge EA,
Durr A,
Stevanin G
Brain
2022 May 24;145(4):1519-1534.
doi: 10.1093/brain/awab407.
PMID: 34788392
Fujioka S,
Sundal C,
Wszolek ZK
Orphanet J Rare Dis
2013 Jan 18;8:14.
doi: 10.1186/1750-1172-8-14.
PMID: 23331413Free PMC Article
Whaley NR,
Fujioka S,
Wszolek ZK
Orphanet J Rare Dis
2011 May 28;6:33.
doi: 10.1186/1750-1172-6-33.
PMID: 21619691Free PMC Article
Therapy
Tezenas du Montcel S,
Charles P,
Goizet C,
Marelli C,
Ribai P,
Vincitorio C,
Anheim M,
Guyant-Maréchal L,
Le Bayon A,
Vandenberghe N,
Tchikviladzé M,
Devos D,
Le Ber I,
N'Guyen K,
Cazeneuve C,
Tallaksen C,
Brice A,
Durr A
Arch Neurol
2012 Apr;69(4):500-8.
doi: 10.1001/archneurol.2011.2713.
PMID: 22491195
Tsunemi T,
Ishikawa K,
Tsukui K,
Sumi T,
Kitamura K,
Mizusawa H
J Neurol Sci
2010 May 15;292(1-2):81-4.
Epub 2010 Feb 23
doi: 10.1016/j.jns.2010.01.021.
PMID: 20181362
Ince Gunal D,
Agan K,
Afsar N,
Borucu D,
Us O
J Clin Pharm Ther
2008 Apr;33(2):175-8.
doi: 10.1111/j.1365-2710.2008.00901.x.
PMID: 18315783
Durig JS,
Jen JC,
Demer JL
Am J Ophthalmol
2002 May;133(5):718-21.
doi: 10.1016/s0002-9394(02)01328-4.
PMID: 11992880
Bürk K,
Fetter M,
Abele M,
Laccone F,
Brice A,
Dichgans J,
Klockgether T
J Neurol
1999 Sep;246(9):789-97.
doi: 10.1007/s004150050456.
PMID: 10525976
Prognosis
Coutelier M,
Jacoupy M,
Janer A,
Renaud F,
Auger N,
Saripella GV,
Ancien F,
Pucci F,
Rooman M,
Gilis D,
Larivière R,
Sgarioto N,
Valter R,
Guillot-Noel L,
Le Ber I,
Sayah S,
Charles P,
Nümann A,
Pauly MG,
Helmchen C,
Deininger N,
Haack TB,
Brais B,
Brice A,
Trégouët DA,
El Hachimi KH,
Shoubridge EA,
Durr A,
Stevanin G
Brain
2022 May 24;145(4):1519-1534.
doi: 10.1093/brain/awab407.
PMID: 34788392
Slapik M,
Kronemer SI,
Morgan O,
Bloes R,
Lieberman S,
Mandel J,
Rosenthal L,
Marvel C
Cerebellum
2019 Feb;18(1):33-46.
doi: 10.1007/s12311-018-0948-z.
PMID: 29949096
Mancuso M,
Orsucci D,
Siciliano G,
Bonuccelli U
J Neurol
2014 Sep;261 Suppl 2(Suppl 2):S528-41.
doi: 10.1007/s00415-014-7387-7.
PMID: 25145890Free PMC Article
Whaley NR,
Fujioka S,
Wszolek ZK
Orphanet J Rare Dis
2011 May 28;6:33.
doi: 10.1186/1750-1172-6-33.
PMID: 21619691Free PMC Article
Velázquez-Pérez L,
Rodríguez-Labrada R,
García-Rodríguez JC,
Almaguer-Mederos LE,
Cruz-Mariño T,
Laffita-Mesa JM
Cerebellum
2011 Jun;10(2):184-98.
doi: 10.1007/s12311-011-0265-2.
PMID: 21399888
Clinical prediction guides
Wirth T,
Clément G,
Delvallée C,
Bonnet C,
Bogdan T,
Iosif A,
Schalk A,
Chanson JB,
Pellerin D,
Brais B,
Roth V,
Wandzel M,
Fleury MC,
Piton A,
Calmels N,
Namer IJ,
Kremer S,
Tranchant C,
Renaud M,
Anheim M
Mov Disord
2023 Oct;38(10):1950-1956.
Epub 2023 Jul 20
doi: 10.1002/mds.29560.
PMID: 37470282
Coutelier M,
Jacoupy M,
Janer A,
Renaud F,
Auger N,
Saripella GV,
Ancien F,
Pucci F,
Rooman M,
Gilis D,
Larivière R,
Sgarioto N,
Valter R,
Guillot-Noel L,
Le Ber I,
Sayah S,
Charles P,
Nümann A,
Pauly MG,
Helmchen C,
Deininger N,
Haack TB,
Brais B,
Brice A,
Trégouët DA,
El Hachimi KH,
Shoubridge EA,
Durr A,
Stevanin G
Brain
2022 May 24;145(4):1519-1534.
doi: 10.1093/brain/awab407.
PMID: 34788392
Kikuchi JK,
Nagashima Y,
Mano T,
Ishiura H,
Hayashi T,
Shimizu J,
Matsukawa T,
Ichikawa Y,
Takahashi Y,
Karino S,
Kanbayashi T,
Kira J,
Goto J,
Tsuji S
J Mol Neurosci
2021 Sep;71(9):1796-1801.
Epub 2021 Jan 12
doi: 10.1007/s12031-020-01784-5.
PMID: 33433851
Slapik M,
Kronemer SI,
Morgan O,
Bloes R,
Lieberman S,
Mandel J,
Rosenthal L,
Marvel C
Cerebellum
2019 Feb;18(1):33-46.
doi: 10.1007/s12311-018-0948-z.
PMID: 29949096
Tezenas du Montcel S,
Charles P,
Goizet C,
Marelli C,
Ribai P,
Vincitorio C,
Anheim M,
Guyant-Maréchal L,
Le Bayon A,
Vandenberghe N,
Tchikviladzé M,
Devos D,
Le Ber I,
N'Guyen K,
Cazeneuve C,
Tallaksen C,
Brice A,
Durr A
Arch Neurol
2012 Apr;69(4):500-8.
doi: 10.1001/archneurol.2011.2713.
PMID: 22491195