Etiology
Morsy H,
Benkirane M,
Cali E,
Rocca C,
Zhelcheska K,
Cipriani V,
Galanaki E,
Maroofian R,
Efthymiou S,
Murphy D,
O'Driscoll M,
Suri M,
Banka S,
Clayton-Smith J,
Wright T,
Redman M,
Bassetti JA,
Nizon M,
Cogne B,
Jamra RA,
Bartolomaeus T,
Heruth M,
Krey I,
Gburek-Augustat J,
Wieczorek D,
Gattermann F,
Mcentagart M,
Goldenberg A,
Guyant-Marechal L,
Garcia-Moreno H,
Giunti P,
Chabrol B,
Bacrot S,
Buissonnière R,
Magry V,
Gowda VK,
Srinivasan VM,
Melegh B,
Szabó A,
Sümegi K,
Cossée M,
Ziff M,
Butterfield R,
Hunt D,
Bird-Lieberman G,
Hanna M,
Koenig M,
Stankewich M,
Vandrovcova J,
Houlden H;
Genomics England Research Consortium
Genet Med
2023 Jan;25(1):76-89.
Epub 2022 Nov 4
doi: 10.1016/j.gim.2022.09.013.
PMID: 36331550Free PMC Article
Zhao J,
Zhang H,
Fan X,
Yu X,
Huai J
Mol Neurobiol
2022 Jun;59(6):3800-3828.
Epub 2022 Apr 14
doi: 10.1007/s12035-022-02826-2.
PMID: 35420383Free PMC Article
Galatolo D,
De Michele G,
Silvestri G,
Leuzzi V,
Casali C,
Musumeci O,
Antenora A,
Astrea G,
Barghigiani M,
Battini R,
Battisti C,
Caputi C,
Cioffi E,
De Michele G,
Dotti MT,
Fico T,
Fiorillo C,
Galosi S,
Lieto M,
Malandrini A,
Melone MAB,
Mignarri A,
Natale G,
Pegoraro E,
Petrucci A,
Ricca I,
Riso V,
Rossi S,
Rubegni A,
Scarlatti A,
Tinelli F,
Trovato R,
Tedeschi G,
Tessa A,
Filla A,
Santorelli FM
Int J Mol Sci
2021 Aug 6;22(16)
doi: 10.3390/ijms22168490.
PMID: 34445196Free PMC Article
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Evidente VG,
Gwinn-Hardy KA,
Caviness JN,
Gilman S
Mayo Clin Proc
2000 May;75(5):475-90.
doi: 10.4065/75.5.475.
PMID: 10807077
Diagnosis
Pedroso JL,
Vale TC,
França Junior MC,
Kauffman MA,
Teive H,
Barsottini OGP,
Munhoz RP
Cerebellum
2022 Dec;21(6):1073-1084.
Epub 2021 Nov 15
doi: 10.1007/s12311-021-01345-5.
PMID: 34782953
Galatolo D,
De Michele G,
Silvestri G,
Leuzzi V,
Casali C,
Musumeci O,
Antenora A,
Astrea G,
Barghigiani M,
Battini R,
Battisti C,
Caputi C,
Cioffi E,
De Michele G,
Dotti MT,
Fico T,
Fiorillo C,
Galosi S,
Lieto M,
Malandrini A,
Melone MAB,
Mignarri A,
Natale G,
Pegoraro E,
Petrucci A,
Ricca I,
Riso V,
Rossi S,
Rubegni A,
Scarlatti A,
Tinelli F,
Trovato R,
Tedeschi G,
Tessa A,
Filla A,
Santorelli FM
Int J Mol Sci
2021 Aug 6;22(16)
doi: 10.3390/ijms22168490.
PMID: 34445196Free PMC Article
Boltshauser E,
Weber KP
Handb Clin Neurol
2018;154:287-298.
doi: 10.1016/B978-0-444-63956-1.00017-5.
PMID: 29903445
Ashizawa T,
Xia G
Continuum (Minneap Minn)
2016 Aug;22(4 Movement Disorders):1208-26.
doi: 10.1212/CON.0000000000000362.
PMID: 27495205Free PMC Article
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Therapy
Berntsson SG,
Landtblom AM,
Flensner G
PLoS One
2017;12(6):e0180054.
Epub 2017 Jun 27
doi: 10.1371/journal.pone.0180054.
PMID: 28654671Free PMC Article
Vogel AP,
Keage MJ,
Johansson K,
Schalling E
Cochrane Database Syst Rev
2015 Nov 13;2015(11):CD010169.
doi: 10.1002/14651858.CD010169.pub2.
PMID: 26564018Free PMC Article
Vogel AP,
Folker J,
Poole ML
Cochrane Database Syst Rev
2014 Oct 28;(10):CD008953.
doi: 10.1002/14651858.CD008953.pub2.
PMID: 25348587
Ilg W,
Bastian AJ,
Boesch S,
Burciu RG,
Celnik P,
Claaßen J,
Feil K,
Kalla R,
Miyai I,
Nachbauer W,
Schöls L,
Strupp M,
Synofzik M,
Teufel J,
Timmann D
Cerebellum
2014 Apr;13(2):248-68.
doi: 10.1007/s12311-013-0531-6.
PMID: 24222635Free PMC Article
Guan WJ,
Liu XJ,
Tang BS,
Liu YT,
Zhou Y,
Jiang H,
Shen L,
Xia K,
Wang JL
Neurol India
2013 May-Jun;61(3):226-30.
doi: 10.4103/0028-3886.115056.
PMID: 23860139
Prognosis
Alvarenga MP,
Siciliani LC,
Carvalho RS,
Ganimi MC,
Penna PS
Neurol Sci
2022 Aug;43(8):4997-5005.
Epub 2022 Apr 25
doi: 10.1007/s10072-022-06084-x.
PMID: 35469073
Damásio J,
Santos D,
Morais S,
Brás J,
Guerreiro R,
Sardoeira A,
Cavaco S,
Carrilho I,
Barbot C,
Barros J,
Sequeiros J
Clin Genet
2021 Jul;100(1):79-83.
Epub 2021 Apr 22
doi: 10.1111/cge.13954.
PMID: 33682124
Witek N,
Hawkins J,
Hall D
Curr Neurol Neurosci Rep
2021 Feb 26;21(3):13.
doi: 10.1007/s11910-021-01092-4.
PMID: 33638050
Vogel AP,
Wardrop MI,
Folker JE,
Synofzik M,
Corben LA,
Delatycki MB,
Awan SN
J Voice
2017 Mar;31(2):243.e9-243.e19.
Epub 2016 Aug 5
doi: 10.1016/j.jvoice.2016.04.015.
PMID: 27501923
Dupré N,
Bouchard JP,
Brais B,
Rouleau GA
Can J Neurol Sci
2006 May;33(2):149-57.
doi: 10.1017/s031716710000490x.
PMID: 16736723
Clinical prediction guides
Gorcenco S,
Karremo C,
Puschmann A
Cerebellum
2024 Feb;23(1):82-91.
Epub 2022 Dec 16
doi: 10.1007/s12311-022-01505-1.
PMID: 36525215Free PMC Article
Alvarenga MP,
Siciliani LC,
Carvalho RS,
Ganimi MC,
Penna PS
Neurol Sci
2022 Aug;43(8):4997-5005.
Epub 2022 Apr 25
doi: 10.1007/s10072-022-06084-x.
PMID: 35469073
Vogel AP,
Wardrop MI,
Folker JE,
Synofzik M,
Corben LA,
Delatycki MB,
Awan SN
J Voice
2017 Mar;31(2):243.e9-243.e19.
Epub 2016 Aug 5
doi: 10.1016/j.jvoice.2016.04.015.
PMID: 27501923
Wedding IM,
Kroken M,
Henriksen SP,
Selmer KK,
Fiskerstrand T,
Knappskog PM,
Berge T,
Tallaksen CM
Orphanet J Rare Dis
2015 Sep 4;10:108.
doi: 10.1186/s13023-015-0328-4.
PMID: 26338206Free PMC Article
Vogel AP,
Folker J,
Poole ML
Cochrane Database Syst Rev
2014 Oct 28;(10):CD008953.
doi: 10.1002/14651858.CD008953.pub2.
PMID: 25348587