References
- LennoxBRLennoxGGMind and movement: the neuropsychiatry of movement disordersJ Neurol Neurosurgy, Psychiatry200272Suppl 1i28i31
- HuntingtonGOn choreaMedical and Surgical Reporter (Philadelphia)187226317321
- McHughPRThe neuropsychiatry of basal ganglia disorders: a triadic syndrome and its explanationNeuropsychiatry Neuropsychol Behav Neurol19892239247
- AlexanderGEDeLongMRStrickPLParallel organization of functionally segregated circuits linking basal ganglia and cortexAnnu Rev Neurosci1986935738110.1146/annurev.ne.09.030186.0020413085570
- RosenblattALeroiINeuropsychiatry of Huntington’s disease and other basal ganglia disordersPsychosomatics200041243010.1016/S0033-3182(00)71170-410665265
- StarksteinSEBrockmanSHayhowBDPsychiatric syndromes in Parkinson’s diseaseCurr Opin Psychiatry20122546847210.1097/YCO.0b013e3283577ed122992542
- MegaMSCummingsJLFrontal-subcortical circuits and neuropsychiatric disordersJ Neuropsychiatry Clin Neurosci199463583707841807
- CummingsJLAnatomic and behavioral aspects of frontal-subcortical circuitsAnn NY Acad Sci199576911310.1111/j.1749-6632.1995.tb38127.x8595019
- TekinSCummingsJLFrontal-subcortical neuronal circuits and clinical neuropsychiatry: an updateJ Psychosom Res20025364765410.1016/S0022-3999(02)00428-212169339
- RamnaniNThe primate cortico-cerebellar system: anatomy and functionNat Rev Neurosci2006751152210.1038/nrn195316791141
- WalterfangMEvansALooiJCet alThe neuropsychiatry of neuroacanthocytosis syndromesNeurosci Biobehav Rev2011351275128310.1016/j.neubiorev.2011.01.00121237198
- StoodleyCJValeraEMSchmahmannJDFunctional topography of the cerebellum for motor and cognitive tasks: an fMRI studyNeuroImage2012591560157010.1016/j.neuroimage.2011.08.06521907811
- LooiJCWalterfangMStriatal morphology as a biomarker in neurodegenerative diseaseMol Psychiatry20131841742410.1038/mp.2012.5422584865
- SchmahmannJDDisorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndromeJ Neuropsychiatry Clin Neurosci20041636737810.1176/appi.neuropsych.16.3.36715377747
- FolsteinSEChaseGAWahlWEMcDonnellAMFolsteinMFHuntington disease in Maryland: clinical aspects of racial variationAm J Hum Genet1987411681792956881
- LeeJMRamosEMLeeJHet alCAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashionNeurology20127869069510.1212/WNL.0b013e318249f68322323755
- van DuijnEKingmaEMvan der MastRCPsychopathology in verified Huntington’s disease gene carriersJ Neuropsychiatry Clin Neurosci20071944144810.1176/appi.neuropsych.19.4.44118070848
- KesslerRCBerglundPDemlerOJinRMerikangasKRWaltersEELifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey ReplicationArch Gen Psychiatry20056259360210.1001/archpsyc.62.6.59315939837
- SchoenfeldMMyersRHCupplesLABerkmanBSaxDSClarkEIncreased rate of suicide among patients with Huntington’s diseaseJ Neurol Neurosurg Psychiatry1984471283128710.1136/jnnp.47.12.12836239910
- PaulsenJSNehlCHothKFet alDepression and stages of Huntington’s diseaseJ Neuropsychiatry Clin Neurosci20051749650210.1176/appi.neuropsych.17.4.49616387989
- MendezMFHuntington’s disease: update and review of neuropsychiatric aspectsInt J Psychiatry Med19942418920810.2190/HU6W-3K7Q-NAEL-XU6K7890478
- MerikangasKRAkiskalHSAngstJet alLifetime and 12-month prevalence of bipolar spectrum disorder in the National Comorbidity Survey replicationArch Gen Psychiatry20076454355210.1001/archpsyc.64.5.54317485606
- PeralaJSuvisaariJSaarniSIet alLifetime prevalence of psychotic and bipolar I disorders in a general populationArch Gen Psychiatry200764192810.1001/archpsyc.64.1.1917199051
- BrooksDSMurphyDJanotaILishmanWAEarly-onset Huntington’s chorea. Diagnostic cluesBr J Psychiatry198715185085210.1192/bjp.151.6.8502971414
- MarderKZhaoHMyersRHet alRate of functional decline in Huntington’s diseaseNeurology200054452458Erratum published in Neurology 2000;54:171210.1212/WNL.54.2.45210668713
- BeglingerLJLangbehnDRDuffKet alProbability of obsessive and compulsive symptoms in Huntington’s diseaseBiol Psychiatry20076141541810.1016/j.biopsych.2006.04.03416839521
- AndersonKELouisEDSternYMarderKSCognitive correlates of obsessive and compulsive symptoms in Huntington’s diseaseAm Jl Psychiatry200115879980110.1176/appi.ajp.158.5.799
- SimmonsJTPastakiaBChaseTNShultsCWMagnetic resonance imaging in Huntington diseaseAJNR Am J Neuroradiol1986725282937278
- AylwardEHSchwartzJMachlinSPearlsonGBicaudate ratio as a measure of caudate volume on MR imagesAJNR Am J Neuroradiol199112121712221763757
- MirowitzSASartorKPrenskyAJGadoMHodgesFJ
3rd Neurodegenerative diseases of childhood: MR and CT evaluationJ Comput Assist Tomogr19911521022210.1097/00004728-199103000-000052002097 - RosasHDTuchDSHeveloneNDet alDiffusion tensor imaging in presymptomatic and early Huntington’s disease: Selective white matter pathology and its relationship to clinical measuresMov Disord2006211317132510.1002/mds.2097916755582
- Della NaveRGinestroniATessaCet alRegional distribution and clinical correlates of white matter structural damage in Huntington disease: a tract-based spatial statistics studyAJNR Am J Neuroradiol2010311675168110.3174/ajnr.A212820488902
- DumasEMvan den BogaardSJRuberMEet alEarly changes in white matter pathways of the sensorimotor cortex in premanifest Huntington’s diseaseHum Brain Mapp20123320321210.1002/hbm.2120521264990
- BohannaIGeorgiou-KaristianisNEganGFConnectivity-based segmentation of the striatum in Huntington’s disease: vulnerability of motor pathwaysNeurobiol Dis20114247548110.1016/j.nbd.2011.02.01021382492
- DouaudGBehrensTEPouponCet alIn vivo evidence for the selective subcortical degeneration in Huntington’s diseaseNeuroImage20094695896610.1016/j.neuroimage.2009.03.04419332141
- MaybergHSStarksteinSEPeyserCEBrandtJDannalsRFFolsteinSEParalimbic frontal lobe hypometabolism in depression associated with Huntington’s diseaseNeurology1992421791179710.1212/WNL.42.9.17911387463
- VonsattelJPDiFigliaMHuntington diseaseJ Neuropathol Exp Neurol19985736938410.1097/00005072-199805000-000019596408
- RampoldiLDanekAMonacoAPClinical features and molecular bases of neuroacanthocytosisJl Mol Med20028047549110.1007/s00109-002-0349-z
- UenoSMarukiYNakamuraMet alThe gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosisNat Genet20012812112210.1038/8882511381254
- HardieRJPullonHWHardingAEet alNeuroacanthocytosis. A clinical, haematological and pathological study of 19 casesBrain1991114Pt 1A13491998879
- DanekASheesleyLTierneyMUttnerIGrafmanJCognitive and neuropsychiatric findings in McLeod syndrome and in chorea-acanthocytosisDanekAeditor.Neuroacanthocytosis syndromes.1st Edition.DordrechtSpringer2004p 95116
- SorrentinoGDe RenzoAMinielloSNoriOBonavitaVLate appearance of acanthocytes during the course of chorea-acanthocytosisJ Neurol Sci199917517810.1016/S0022-510X(99)00005-210371080
- WalterfangMYucelMWalkerRet alAdolescent obsessive compulsive disorder heralding chorea-acanthocytosisMov Disord20082342242510.1002/mds.2172518058950
- LossosADobson-StoneCMonacoAet alEarly clinical heterogeneity in choreoacanthocytosisArch Neurol20056261161410.1001/archneur.62.4.61115824261
- KartsounisLHardieRThe pattern of cognitive impairments in neuroacanthocytosisArch Neurol199653778010.1001/archneur.1996.005500100950228599563
- WalterfangMEvansALooiJCLet alThe neuropsychiatry of neuroacanthocytosis syndromesNeurosci Biobehav Rev2011351275128310.1016/j.neubiorev.2011.01.00121237198
- WalterfangMLooiJCStynerMet alShape alterations in the striatum in chorea-acanthocytosisPsychiatry Res2011192293610.1016/j.pscychresns.2010.10.00621377843
- SokolovESchneiderSABainPGChorea-acanthocytosisPract Neurol201212404310.1136/practneurol-2011-00004522258171
- TsaiCHChenRSChangHCLuCSLiaoKKAcanthocytosis and spinocerebellar degeneration: a new association?Mov Disord19971245645910.1002/mds.8701203339159749
- NichollDJSuttonIDottiMTSuppleSGDanekALawdenMWhite matter abnormalities on MRI in neuroacanthocytosisJ Neurol Neurosurg Psychiatry2004751200120110.1136/jnnp.2003.02678115258233
- KatsubeTShimonoTAshikagaRHosonoMKitagakiHMurakamiTDemonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblingsAJNR Am J Neuroradiol20093038638810.3174/ajnr.A128218945802
- Muller-VahlKRBerdingGEmrichHMPeschelTChorea-acanthocytosis in monozygotic twins: clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and [(123)I]beta-CIT SPECTJ Neurol20072541081108810.1007/s00415-006-0492-517294064
- PantelisCBarnesTNelsonHIs the concept of frontal-subcortical dementia relevant to schizophrenia?Br J Psychiatry199216044246010.1192/bjp.160.4.4421349250
- AouizerateBGuehlDCunyEet alPathophysiology of obsessive-compulsive disorder: a necessary link between phenomenology, neuropsychology, imagery and physiologyProg Neurobiol20047219522110.1016/j.pneurobio.2004.02.00415130710
- JungHHHergersbergMKneifelSet alMcLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findingsAnn Neurol20014938439210.1002/ana.7611261514
- DanekARubioJRampoldiLet alMcLeod neuroacanthocytosis: genotype and phenotypeAnn Neurol20015077576410.1002/ana.10035
- JungHHergersbergMKneifelSet alMcLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findingsAnn Neurol20014938439210.1002/ana.7611261514
- BrinMAHSymmansWMarshWRowlandLNeuropathology of McLeod phenotype is like chorea-acanthocytosisCan J Neuro Sci199320S23410.1016/0022-510X(93)90309-M
- RinneJDanielSScaravilliFPiresMHardingAMarsdenCThe neuropathological features of neuroacanthocytosisMov Disord1994929730410.1002/mds.8700903038041370
- HewerEDanekASchoserBet alMcLeod myopathy revisited: more neurogenic and less benignBrain20071303285329610.1093/brain/awm26918055495
- ZemanADanielsGTilleyLet alMcLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK genePsychiatr Genet20051529129310.1097/00041444-200512000-0001216314760
- VazquezMMartinezMElectroconvulsive therapy in neuroacanthocytosis or McLeod syndromeJ ECT200925727310.1097/YCT.0b013e31817b06e018997633
- MirandaMCastiglioniCFreyBHergersbergMDanekAJungHPhenotypic variability of a distinct deletion in McLeod syndromeMov Disord2007221358136110.1002/mds.2153617469188
- OeschnerMDanekAWinklerGMcLeod-Neuroakanthozytose: ein zu selten diagnostiziertes syndrom?Akt Neurologie19962324525010.1055/s-2007-1017870
- JungHHakerHSchizophrenia as a manifestation of X-linked McLeod-neuroacanthocytosis syndromeJ Clin Psychiatry20046572272310.4088/JCP.v65n0520c15163264
- DottiMBattistiCMalandriniAet alMcLeod syndrome and neuroacanthocytosis with a novel mutation in the XK geneMov Disord2000151282128410.1002/1531-8257(200011)15:6<;1282::AID-MDS1042>3.0.CO;2-211104227
- DanekAUttnerIVoglTTatschKWittTCerebral involvement in McLeod syndromeNeurology19944411712010.1212/WNL.44.1.1178290045
- OeschnerMBuchertRBeyerWDanekAReduction of striatal glucose metabolism in McLeod choreaoacanthocytosisJ Neurol Neurosurg Psychiatry20017051752010.1136/jnnp.70.4.51711254778
- DydakUMuellerSSandorPMeierDBoesigerPJungHCerebral metabolic alterations in McLeod syndromeEur Neurol200656172310.1159/00009513616914926
- HolmesSEO’HearnERosenblattAet alA repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2Nat Genet20012937737810.1038/ng76011694876
- MargolisRO’HearnERosenblattAet alA disorder similar to Huntington’s disease is associated with a novel CAG repeat expansionAnn Neurol200150373380
- NicholasAPO’HearnEHolmesSEChenDTMargolisRLClinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutationMov Disord20041964164810.1002/mds.2007715197701
- StevaninGFujigasakiHLebreA-Set alHuntington’s disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genesBrain2003126Pt 71599160310.1093/brain/awg15512805114
- BardienSAbrahamsFSoodyallHet alA South African mixed ancestry family with Huntington disease-like 2: clinical and genetic featuresMov Disord2007222083208910.1002/mds.2167217708569
- RodriguesGGRWalkerRHBriceAet alHuntington’s disease-like 2 in Brazil—report of 4 patientsMov Disord2008232244224710.1002/mds.2222318816802
- RudnickiDPletnikovaOVonsattelJRossCMargolisRA comparison of Huntington disease and Huntington disease-like 2 neuropathologyJ Neuropathol Exp Neurol20086736637410.1097/NEN.0b013e31816b4aee18379432
- de BiePMullerPWijmengaCKlompLWMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesJ Med Genet20074467368810.1136/jmg.2007.05274617717039
- RathbunJNeuropsychological aspects of Wilson’s diseaseInt J Neurosci19968522122910.3109/002074596089866848734560
- MedaliaAScheinbergIPsychopathology in patients with Wilson’s diseaseAm J Psychiatry1989146662642712173
- SrinivasKSinhaSTalyAet alDominant psychiatric manifestations in Wilson’s disease: A diagnostic and therapeutic challengeJ Neurol Sci200826610410817904160
- AkilMSchwartzJADutchakDYuzbasiyan-GurkanVBrewerGJThe psychiatric presentations of Wilson’s diseaseJ Neuropsychiatry Clin Neurosci199133773821821256
- ShanmugiahASinhaSTalyAet alPsychiatric manifestations in Wilson’s disease: a cross-sectional analysisJ Neuropsychiatry Clin Neurosci200820818510.1176/appi.neuropsych.20.1.8118305288
- SeniowJBakTGajdaJPoniatowskaRCzlonkowskaACognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson’s diseaseMov Disord2002171077108310.1002/mds.1019512360563
- MedaliaAIsaacs-GlabermanKScheinbergINeuropsychological impairment in Wilson’s diseaseArch Neurol19884550250410.1001/archneur.1988.005202900300093358700
- Isaacs-GlabermanKMedaliaAScheinbergIVerbal recall and recognition abilities in patients with Wilson’s diseaseCortex19892535336110.1016/S0010-9452(89)80050-42805722
- DeningTThe neuropsychiatry of Wilson’s disease: a reviewInt J Psychiatry Med19912113514810.2190/BAFK-D0A7-Q1C4-V6671894453
- WichowiczHCubalaWSlawekJWilson’s disease associated with delusional disorderPsychiatry Clin Neurosci20066075876010.1111/j.1440-1819.2006.01592.x17109711
- StillerPKassubekJSchonfeldt-LeuconaCConnemannBWilson’s disease in psychiatric patientsPsychiatry Clin Neurosci20085664910.1046/j.1440-1819.2002.01071.x12485310
- KumawatBLSharmaCMTripathiGRalotTDixitSWilson’s disease presenting as isolated obsessive-compulsive disorderIndian J Med Sci20076160761010.4103/0019-5359.3704718025747
- WilliamsJWalsheJWilson’s disease: an analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatment with chelating agentsBrain198110473575210.1093/brain/104.4.7357326565
- RohJLeeTInitial and follow-up brain MRI findings and correlation with the clinical course in Wilson’s diseaseNeurology1994441064106810.1212/WNL.44.6.10648208401
- KingADWalsheJMKendallBEet alCranial MR imaging in Wilson’s diseaseAJR Am J Roentgenol19961671579158410.2214/ajr.167.6.89566018956601
- HitoshiSIwataMYoshikawaKMid-brain pathology of Wilson’s disease: MRI analysis of three casesJ Neurol Neurosurg Psychiatry19915462462610.1136/jnnp.54.7.6241895127
- HawkinsRMazziottaJPhelpsMWilson’s disease studied with FDG and positron-emission tomographyNeurology1987371707171110.1212/WNL.37.11.17073499583
- PigaMMurruASattaLet alBrain MRI and SPECT in the diagnosis of early neurological involvement in Wilson’s diseaseEur J Nucl Med Mol Imaging20083571672410.1007/s00259-007-0681-118180918
- HayflickSJWestawaySKLevinsonBet alGenetic, clinical, and radiographic delineation of Hallervorden-Spatz syndromeN Engl J Med2003348334010.1056/NEJMoa02081712510040
- FreemanKGregoryATurnerABlascoPHogarthPHayflickSIntellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegenerationJ Intell Disabil Res20075141742610.1111/j.1365-2788.2006.00889.x
- CooperGRizzoMJonesRAdult-onset Hallervorden-Spatz syndrome presenting as cortical dementiaAlzheimer Dis Assoc Disord20001412012610.1097/00002093-200004000-0001010850751
- MarelliCPiacentiniSGaravagliaBGirottiFAlbaneseAClinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegenerationMov Disord20052020821210.1002/mds.2028215390030
- NardocciNRumiVCombiMAngeliniLMirabileDBruzzoneMComplex tics, stereotypies, and compulsive behavior as clinical presentation of a juvenile progressive dystonia suggestive of Hallervorden-Spatz diseaseMov Disord1994936937110.1002/mds.8700903228041384
- NicholasAEarnstKMarsonDAtypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsionsMov Disord20052088088610.1002/mds.2047615834858
- ScaranoVPellecchiaMFillaABaronePHallervorden-Spatz syndrome resembling a typical Tourette syndromeMov Disord20021761862010.1002/mds.1010512112223
- ÖnerÖÖnerPDedaGİçağasioğluDPsychotic disorder in a case with Hallervorden–Spatz diseaseActa Psychiatr Scand200310839439710.1034/j.1600-0447.2003.00159.x14531762
- MorphyMFeldmanJKilburnGHallervorden-Spatz disease in a psychiatric settingJ Clin Psychiatry19895066682914882
- AngeliniLNardocciNRumiVZorziCStradaLSavoiardoMHallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in lifeJ Neurol199223941742510.1007/BF008568051447570
- SavoiardoMHallidayWCNardocciNet alHallervorden-Spatz disease: MR and pathologic findingsAJNR Am J Neuroradiol1993141551628427079
- GuillermanRPThe eye-of-the-tiger signRadiology200021789589611110959
- MolinuevoJLMunozEValldeoriolaFTolosaEThe eye of the tiger sign in cortical-basal ganglionic degenerationMov Disord19991416917110.1002/1531-8257(199901)14:1<;169::AID-MDS1033>3.0.CO;2-#9918367
- DavieCABarkerGJMachadoCMillerDHLeesAJProton magnetic resonance spectroscopy in Steele-Richardson-Olszewski syndromeMov Disord19971276777110.1002/mds.8701205259380064
- McNeillABirchallDHayflickSJet alT2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulationNeurology200870(1614161910.1212/01.wnl.0000310985.40011.d618443312
- DoiHKoyanoSMiyatakeSet alSiblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findingsJ Neurolog Sci201029017217610.1016/j.jns.2009.11.008
- YoshidaKFurihataKTakedaSet alA mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humansNat Genet1995926727210.1038/ng0395-2677539672
- HellmanNGitlinJCeruloplasmin metabolism and functionAnnu Rev Nutr2002224395810.1146/annurev.nutr.22.012502.11445712055353
- MiyajimaHAceruloplasminemia, an iron metabolic disorderNeuropathology20032334535010.1046/j.1440-1789.2003.00521.x14719552
- MiyajimaHKohnoSTakahashiYYonekawaOKannoTEstimation of the gene frequency of aceruloplasminemia in JapanNeurology 119995361710.1212/WNL.53.3.617
- McNeillAPandolfoMKuhnJShangHMiyajimaHThe neurological presentation of ceruloplasmin gene mutationsEur Neurol20086020020510.1159/00014869118667828
- MiyajimaHTakahashiYKonoSHishidaAIshikawaKSakamotoMFrontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemiaJ Neurol200525299699710.1007/s00415-005-0796-x15765266
- WalterfangMMarchEVargheseDet alSchizophrenia-like psychosis and aceruloplasminemiaNeuropsychiatric Dis Treat2006257758110.2147/nedt.2006.2.4.577
- DaimonMMoriaiSSusaSYamataniKHosoyaTKatoTHypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brainNeuroradiology19994118518710.1007/s00234005073010206163
- MoritaHIkedaSYamamotoKet alHereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese familyAnn Neurol19953764665610.1002/ana.4103705157755360
- GrisoliMPipernoAChiappariniLMarianiRSavoirardoMMR imaging of cerebral cortical involvement in aceruloplasminemiaAm J Neuroradiol20052665766115760883
- HaackeEMChengNYHouseMJet alImaging iron stores in the brain usingMagn Reson Imaging20052312515733784
- McNeillAChinneryPFNeuroferritinopathy: update on clinical features and pathogenesisCurr Drug Targets2012131200120310.2174/13894501280200237522515742
- HautotDPankhurstQMorrisCCurtisABurnJDobsonJPreliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patientsBiochim Biophys Acta20071772212510.1016/j.bbadis.2006.09.01117097860
- LehnABoyleRBrownHAireyCMellickGNeuroferritinopathyParkinsonism Relat Disord20121890991510.1016/j.parkreldis.2012.06.02122818529
- ChinneryPCromptonDBirchallDJacksonMCoulthardALombesAet alClinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutationBrain200713011011910.1093/brain/awl31917142829
- WillisASawleGGuilbertPCurtisAPalatal tremor and cognitive decline in neuroferritinopathyJ Neurol Neurosurg Psychiatry200273919210.1136/jnnp.73.1.9112082064
- OhtaENagasakaTShindoKet alNeuroferritinopathy in a Japanese family with a duplication in the ferritin light chain geneNeurology2007701493149410.1212/01.wnl.0000310428.74624.9518413574
- MacielPCruzVConstanteMet alNeuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementNeurology20056560360510.1212/01.wnl.0000178224.81169.c216116125
- MirPEdwardsMCurtisABhatiaKQuinnNAdult-onset generalized dystonia due to a mutation in the neuroferritinopathy geneMov Disord20052024324510.1002/mds.2028015390032
- McNeillAGormanGKhanAHorvathRBlamireAMChinneryPFProgressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rateAJNR Am J Neuroradiol2012331810181310.3174/ajnr.A303622499840
- KoideRIkeuchiTOnoderaOet alUnstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)Nat Genet1994691310.1038/ng0194-98136840
- AdachiNArimaKAsadaTet alDentatorubral-pallidoluysian atrophy (DRPLA) presenting with psychosisJ NeuroPsychiatry Clin Neurosci20011325826010.1176/appi.neuropsych.13.2.25811449034
- SimpsonMSmithAKentHRoxburghRNeurological picture. Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophyJ Neurol Neurosurg Psychiatry20128352953010.1136/jnnp-2011-30161222362920
- YoshiiFTomiyasuHShinoharaYFluid attenuation inversion recovery (FLAIR) images of dentatorubropallidoluysian atrophy: case reportJ Neurol Neurosurg Psychiatry19986539639910.1136/jnnp.65.3.3969728961
- UyamaEKondoIUchinoMet alDentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a familyJ Neurolog Sci199513014615310.1016/0022-510X(95)00019-X
- SunamiYKoideRAraiNYamadaMMizutaniTOyanagiKRadiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophyAJNR Am J Neuroradiol20113210911420966051
- WalterfangMVelakoulisDWhitfordTJPantelisCUnderstanding aberrant white matter development in schizophrenia: an avenue for therapy?Expert Rev Neurother20111197198710.1586/ern.11.7621721915
- WalterfangMWoodSJVelakoulisDCopolovDPantelisCDiseases of white matter and schizophrenia-like psychosisAust N Z J Psychiatry20053974675610.1080/j.1440-1614.2005.01678.x16168032
- WalterfangMWoodSJVelakoulisDPantelisCNeuropathological, neurogenetic and neuroimaging evidence for white matter pathology in schizophreniaNeurosci Biobehav Rev20063091894810.1016/j.neubiorev.2006.02.00116580728
- BonelliRMCummingsJLFrontal-subcortical dementiasNeurologist20081410010710.1097/NRL.0b013e31815b0de218332839
- GeschwindDHFocusing attention on cognitive impairment in spinocerebellar ataxiaArch Neurol199956202210.1001/archneur.56.1.209923755
- KishSJel-AwarMStussDet alNeuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severityNeurology1994441738174610.1212/WNL.44.9.17387936307
- LiszewskiCMO’HearnELeroiIGourleyLRossCAMargolisRLCognitive impairment and psychiatric symptoms in 133 patients with diseases associated with cerebellar degenerationJ Neuropsychiatry Clin Neurosci20041610911210.1176/appi.neuropsych.16.1.10914990766
- LeroiIO’HearnEMarshLet alPsychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington’s diseaseAm J Psychiatry20021591306131410.1176/appi.ajp.159.8.130612153822
- MascalchiMSpinocerebellar ataxiasNeurolog Sci200829Suppl 331133310.1007/s10072-008-1005-3
- SavoiardoMStradaLGirottiFet alOlivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophyRadiology1990174Pt 16936962305051
- BradacGBRivaAMortaraPOrsiLRiccioAPrimary progressive cerebellar ataxiaNeuroradiology19893116182716998
- YamadaSNishimiyaJNakajimaTTaketazuFLinear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patientsJ Neurol Neurosurg Psychiatry20057657357510.1136/jnnp.2004.04027915774449
- Della NaveRGinestroniATessaCet alBrain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statisticsNeuroImage200843101910.1016/j.neuroimage.2008.06.03618672073
- MandelliMLDe SimoneTMinatiLet alDiffusion tensor imaging of spinocerebellar ataxias types 1 and 2AJNR Am J Neuroradiol2007281996200010.3174/ajnr.A071617998418
- PrakashNHagemanNHuaXTogaAWPerlmanSLSalamonNPatterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromesNeuroImage200947Suppl 2T728110.1016/j.neuroimage.2009.05.01319446636
- D’AgataFCaroppoPBoghiAet alLinking coordinative and executive dysfunctions to atrophy in spinocerebellar ataxia 2 patientsBrain Struct Funct201121627528810.1007/s00429-011-0310-421461742
- ReetzKKleimanAKleinCet alCAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM studyPloS One20116e1512510.1371/journal.pone.001512521311576
- BrockmannKReimoldMGlobasCet alPET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17J Nucl Med2012531074108010.2967/jnumed.111.10154322653791
- AndreasenNCNopoulosPO’LearyDSMillerDDWassinkTFlaumMDefining the phenotype of schizophrenia: cognitive dysmetria and its neural mechanismsBiol Psychiatry19994690892010.1016/S0006-3223(99)00152-310509174
- BlomqvistMGieselmannVManssonJEAccumulation of lysosulfatide in the brain of arylsulfatase A-deficient miceLipids Health Dis2011102810.1186/1476-511X-10-2821299873
- HayashiTNakamuraMIchibaMet alAdult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported casePsychiatry Clin Neurosci20116510510810.1111/j.1440-1819.2010.02169.x21265945
- LugowskaAAmaralOBergerJet alMutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countriesMol Genet Metab20058635335910.1016/j.ymgme.2005.07.01016140556
- AmaducciLSorbiSPiacentiniSBickKLThe first Alzheimer disease case: a metachromatic leukodystrophy?Dev Neurosci19911318618710.1159/0001121581726217
- SalmonEVan der LindenMMaerfens NoordhoutAet alEarly thalamic and cortical hypometabolism in adult-onset dementia due to metachromatic leukodystrophyActa Neurolog Belg199999185188
- JohannsenPEhlersLHansenHJDementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophyDement Geriatr Cogn Disord200112858810.1159/00005124011173879
- BarkhofFScheltensPImaging of white matter lesionsCerebrovasc Dis200213Suppl 2213010.1159/00004914611901239
- CheonJEKimIOHwangYSet alLeukodystrophy in children: a pictorial review of MR imaging featuresRadiographics20022246147612006681
- KruseBHanefeldFChristenHJet alAlterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivoJ Neurol1993241687410.1007/BF008697667908027
- HydeTMZieglerJCWeinbergerDRPsychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosisArch Neurol19924940140610.1001/archneur.1992.005302800950281532712
- MillatGMarcaisCRafiMAet alNiemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeAm J Hum Genet1999651321132910.1086/30262610521297
- NaureckieneSSleatDELacklandHet alIdentification of HE1 as the second gene of Niemann-Pick C diseaseScience20002902298230110.1126/science.290.5500.229811125141
- SevinMLescaGBaumannNet alThe adult form of Niemann-Pick disease type CBrain2007130Pt 112013317003072
- WalterfangMFaheyMDesmondPet alWhite and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional studyNeurology201075495610.1212/WNL.0b013e3181e6210e20484681
- WalterfangMFietzMFaheyMet alThe neuropsychiatry of Niemann-Pick type C disease in adulthoodJ Neuropsychiatry Clin Neurosci20061815817010.1176/appi.neuropsych.18.2.15816720792
- SullivanDWalterfangMVelakoulisDBipolar disorder and Niemann-Pick disease type CAm J Psychiatry20051621021102210.1176/appi.ajp.162.5.1021-a15863815
- ImrieJVijayaraghavenSWhitehouseCet alNiemann-Pick disease type C in adultsJ Inherit Metab Dis20022549150010.1023/A:102125940319612555942
- WalterfangMFaheyMAbelLFietzMWoodABowmanEet alSize and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variablesAJNR Am J Neuroradiol2011321340134610.3174/ajnr.A249021596811
- WalterfangMMacfarlaneMDLooiJCet alPontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type CEur J Neurol20121946246710.1111/j.1468-1331.2011.03545.x22329857
- WalterfangMPatenaudeBAbelLAet alSubcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional studyAJNR Am J Neuroradiol201334(7)13344010.3174/ajnr.A3356.23237858
- KumarAChuganiHTNiemann-Pick disease type C: unique 2-deoxy-2[(1)(8)F] fluoro-D-glucose PET abnormalityPediatric Neurol201144576010.1016/j.pediatrneurol.2010.08.004
- PantelisCBarnesTRNelsonHEIs the concept of frontal-subcortical dementia relevant to schizophrenia?Br J Psychiatry199216044246010.1192/bjp.160.4.4421349250
- AndreasenNParadisoSO’LearyD“Cognitive dysmetria” as an integrative theory of schizophrenia: a dysfunction in cortical-subcortical-cerebellar circuitry?Schizophr Bull19982420321810.1093/oxfordjournals.schbul.a0333219613621
- KimuraMMatsumotoNNeuronal activity in the basal ganglia. Functional implicationsAdv Neurol1997741111189348406
- WalterfangMPsychiatric aspects of the neurodegenerative choreasWalkerRHeditor.The differential diagnosis of chorea.OxfordOxford University Press2011p 369406
- McGorryPDPurcellRGoldstoneSAmmingerGPAge of onset and timing of treatment for mental and substance use disorders: implications for preventive intervention strategies and models of careCurr Opin Psychiatry20112430130610.1097/YCO.0b013e3283477a0921532481
