References
- 1SunYMLuCWuZYSpinocerebellar ataxia: relationship between phenotype and genotype – a reviewClin Genet20169030514doi: 10.1111/cge.1280827220866
- 2BanfiSServadioAChungMYKwiatkowskiTJ
Jr McCallAEDuvickLAet alIdentification and characterization of the gene causing type 1 spinocerebellar ataxiaNat Genet1994751320doi: 10.1038/ng0894-5137951322 - 3WatsonLMBamberESchnekenbergRPWilliamsJBettencourtCLickissJet alDominant mutations in GRM1 cause spinocerebellar ataxia type 44Am J Hum Genet20171014518doi: 10.1016/j.ajhg.2017.08.00528886343
- 4RossiMPerez-LloretSDoldanLCerquettiDBalejJMillar VernettiPet alAutosomal dominant cerebellar ataxias: a systematic review of clinical featuresEur J Neurol20142160715doi: 10.1111/ene.1235024765663
- 5van SwietenJCBrusseEde GraafBMKriegerEvan de GraafRde KoningIet alA mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]Am J Hum Genet2003721919doi: 10.1086/34548812489043
- 6BrusseEde KoningIMaat-KievitAOostraBAHeutinkPvan SwietenJCSpinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotypeMov Disord200621396401doi: 10.1002/mds.2070816211615
- 7DalskiAAticiJKreuzFRHellenbroichYSchwingerEZuhlkeCMutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxiasEur J Hum Genet20051311820doi: 10.1038/sj.ejhg.520128615470364
- 8MisceoDFannemelMBaroyTRobertoRTvedtBJaegerTet alSCA27 caused by a chromosome translocation: further delineation of the phenotypeNeurogenetics2009103714doi: 10.1007/s10048-009-0197-x19471976
- 9ShimojimaKOkumuraANatsumeJAibaKKurahashiHKubotaTet alSpinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesiaBrain Dev2012342303doi: 10.1016/j.braindev.2011.04.01421600715
- 10ChenZLiXTangBWangJShiYSunZet alSpinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han populationNeurosci Lett2012520169doi: 10.1016/j.neulet.2012.05.00822579694
- 11CoeberghJAFransen van de PutteDESnoeckINRuivenkampCvan HaeringenASmitLMA new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 geneEur J Paediatr Neurol2014184135doi: 10.1016/j.ejpn.2013.10.00624252256
- 12TuckerMKalbFEscobarLinfant spinocerebellar ataxia type 27: early presentation due to a 13q33.1 microdeletion involving the FGF14 geneJ Genet Syndr Gene Ther20134doi: 10.4172/2157-7412.1000208
- 13ChoquetKLa PianaRBraisBA novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxiaNeurogenetics2015162336doi: 10.1007/s10048-014-0436-725566820
- 14PlanesMRooryckCVuillaumeMLBesnardLBouronJLacombeDet alSCA27 is a cause of early-onset ataxia and developmental delayEur J Paediatr Neurol2015192713doi: 10.1016/j.ejpn.2014.11.01325530029
- 15Blanco-BarcaOAmado-PuentesAReparazAMelconCTorreiraC[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene]Rev Neurol2016622389
- 16AmadoABlancoMOReparaz-AndradeASpinocerebellar ataxia 27: clinical phenotype of twin sisters with FGF14 deletionNeuropediatrics201748131doi: 10.1055/s-0037-159811028192817
- 17CoutelierMCoarelliGMoninMLKonopJDavoineCSTessonCet alA panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesBrain2017140157994doi: 10.1093/brain/awx08128444220
- 18Tezenas du MontcelSCharlesPGoizetCMarelliCRibaiPVincitorioCet alFactors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegiaArch Neurol2012695008doi: 10.1001/archneurol.2011.271322491195
- 19BaldarcaraLCurrieSHadjivassiliouMHoggardNJackAJackowskiAPet alConsensus paper: radiological biomarkers of cerebellar diseasesCerebellum20151417596doi: 10.1007/s12311-014-0610-325382714
- 20ChoiKDChoiJHEpisodic ataxias: clinical and genetic featuresJ Mov Disord2016912935doi: 10.14802/jmd.1602827667184
- 21ShakkottaiVGPaulsonHLPhysiologic alterations in ataxia: channeling changes into novel therapiesArch Neurol2009661196201doi: 10.1001/archneurol.2009.21219822774
- 22JenJCGravesTDHessEJHannaMGGriggsRCBalohRWet alPrimary episodic ataxias: diagnosis, pathogenesis and treatmentBrain2007130(Pt 10)248493doi: 10.1093/brain/awm12617575281
- 23ConroyJMcGettiganPMurphyRWebbDMurphySMMcCoyBet alA novel locus for episodic ataxia: UBR4 the likely candidateEur J Hum Genet20142250510doi: 10.1038/ejhg.2013.17323982692
- 24Di ReJWadsworthPALaezzaFIntracellular Fibroblast Growth Factor 14: emerging risk factor for brain disordersFront Cell Neurosci201711103doi: 10.3389/fncel.2017.0010328469558
- 25LaezzaFGerberBRLouJYKozelMAHartmanHCraigAMet alThe FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitabilityJ Neurosci2007271203344doi: 10.1523/JNEUROSCI.2282-07.200717978045
- 26LouJYLaezzaFGerberBRXiaoMYamadaKAHartmannHet alFibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channelsJ Physiol2005569(Pt 1)17993doi: 10.1113/jphysiol.2005.09722016166153
- 27WangQBardgettMEWongMWozniakDFLouJMcNeilBDet alAtaxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14Neuron2002352538doi: 10.1016/S0896-6273(02)00744-412123606
- 28SchaufCLSelective modification of sodium channel gating by solvents and drugsEur J Pharmacol1987136(1)8995doi: 10.1016/0014-2999(87)90783-72439356
- 29ShakkottaiVGXiaoMXuLWongMNerbonneJMOrnitzDMet alFGF14 regulates the intrinsic excitability of cerebellar Purkinje neuronsNeurobiol Dis200933818doi: 10.1016/j.nbd.2008.09.01918930825
- 30BoschMKCarrasquilloYRansdellJLKanakamedalaAOrnitzDMNerbonneJMIntracellular FGF14 (iFGF14) is required for spontaneous and evoked firing in cerebellar Purkinje neurons and for motor coordination and balanceJ Neurosci201535675269doi: 10.1523/JNEUROSCI.2663-14.201525926453
- 31SarvaHShankerVLTreatment options in degenerative cerebellar ataxia: a systematic reviewMov Disord Clin Prac201412918doi: 10.1002/mdc3.12057
- 32PetersonPLSaadJNigroMAThe treatment of Friedreich’s ataxia with amantadine hydrochlorideNeurology198838(9)147880doi: 10.1212/WNL.38.9.14783412597
- 33LouisEDThe evolving definition of essential tremor: what are we dealing with?Parkinsonism Relat Disord201846(Suppl 1)S87S91doi: 10.1016/j.parkreldis.2017.07.00428747280
- 34SalvatoreEVarroneASansoneVNolanoMBruniACDe RosaAet alCharacterization of nigrostriatal dysfunction in spinocerebellar ataxia 17Mov Disord2006218725doi: 10.1002/mds.2082716532453
- 35WangJLXiaoBCuiXXGuoJFLeiLFSongXWet alAnalysis of SCA2 and SCA3/MJD repeats in Parkinson’s disease in mainland China: genetic, clinical, and positron emission tomography findingsMov Disord200924200711doi: 10.1002/mds.2272719672991
- 36YunJYLeeWWKimHJKimJSKimJMKimHJet alRelative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxiaParkinsonism Relat Disord20111733842doi: 10.1016/j.parkreldis.2011.01.01521334959
- 37ParkHKimHJJeonBSParkinsonism in spinocerebellar ataxiaBiomed Res Int20152015125273doi: 10.1155/2015/12527325866756