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The Neuropsychiatry of Hyperkinetic Movement Disorders: Insights from Neuroimaging into the Neural Circuit Bases of Dysfunction Cover

The Neuropsychiatry of Hyperkinetic Movement Disorders: Insights from Neuroimaging into the Neural Circuit Bases of Dysfunction

Open Access
|Aug 2013

References

  1. LennoxBRLennoxGGMind and movement: the neuropsychiatry of movement disordersJ Neurol Neurosurgy, Psychiatry200272Suppl 1i28i31
  2. HuntingtonGOn choreaMedical and Surgical Reporter (Philadelphia)187226317321
  3. McHughPRThe neuropsychiatry of basal ganglia disorders: a triadic syndrome and its explanationNeuropsychiatry Neuropsychol Behav Neurol19892239247
  4. AlexanderGEDeLongMRStrickPLParallel organization of functionally segregated circuits linking basal ganglia and cortexAnnu Rev Neurosci1986935738110.1146/annurev.ne.09.030186.0020413085570
  5. RosenblattALeroiINeuropsychiatry of Huntington’s disease and other basal ganglia disordersPsychosomatics200041243010.1016/S0033-3182(00)71170-410665265
  6. StarksteinSEBrockmanSHayhowBDPsychiatric syndromes in Parkinson’s diseaseCurr Opin Psychiatry20122546847210.1097/YCO.0b013e3283577ed122992542
  7. MegaMSCummingsJLFrontal-subcortical circuits and neuropsychiatric disordersJ Neuropsychiatry Clin Neurosci199463583707841807
  8. CummingsJLAnatomic and behavioral aspects of frontal-subcortical circuitsAnn NY Acad Sci199576911310.1111/j.1749-6632.1995.tb38127.x8595019
  9. TekinSCummingsJLFrontal-subcortical neuronal circuits and clinical neuropsychiatry: an updateJ Psychosom Res20025364765410.1016/S0022-3999(02)00428-212169339
  10. RamnaniNThe primate cortico-cerebellar system: anatomy and functionNat Rev Neurosci2006751152210.1038/nrn195316791141
  11. WalterfangMEvansALooiJCet alThe neuropsychiatry of neuroacanthocytosis syndromesNeurosci Biobehav Rev2011351275128310.1016/j.neubiorev.2011.01.00121237198
  12. StoodleyCJValeraEMSchmahmannJDFunctional topography of the cerebellum for motor and cognitive tasks: an fMRI studyNeuroImage2012591560157010.1016/j.neuroimage.2011.08.06521907811
  13. LooiJCWalterfangMStriatal morphology as a biomarker in neurodegenerative diseaseMol Psychiatry20131841742410.1038/mp.2012.5422584865
  14. SchmahmannJDDisorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndromeJ Neuropsychiatry Clin Neurosci20041636737810.1176/appi.neuropsych.16.3.36715377747
  15. FolsteinSEChaseGAWahlWEMcDonnellAMFolsteinMFHuntington disease in Maryland: clinical aspects of racial variationAm J Hum Genet1987411681792956881
  16. LeeJMRamosEMLeeJHet alCAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashionNeurology20127869069510.1212/WNL.0b013e318249f68322323755
  17. van DuijnEKingmaEMvan der MastRCPsychopathology in verified Huntington’s disease gene carriersJ Neuropsychiatry Clin Neurosci20071944144810.1176/appi.neuropsych.19.4.44118070848
  18. KesslerRCBerglundPDemlerOJinRMerikangasKRWaltersEELifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey ReplicationArch Gen Psychiatry20056259360210.1001/archpsyc.62.6.59315939837
  19. SchoenfeldMMyersRHCupplesLABerkmanBSaxDSClarkEIncreased rate of suicide among patients with Huntington’s diseaseJ Neurol Neurosurg Psychiatry1984471283128710.1136/jnnp.47.12.12836239910
  20. PaulsenJSNehlCHothKFet alDepression and stages of Huntington’s diseaseJ Neuropsychiatry Clin Neurosci20051749650210.1176/appi.neuropsych.17.4.49616387989
  21. MendezMFHuntington’s disease: update and review of neuropsychiatric aspectsInt J Psychiatry Med19942418920810.2190/HU6W-3K7Q-NAEL-XU6K7890478
  22. MerikangasKRAkiskalHSAngstJet alLifetime and 12-month prevalence of bipolar spectrum disorder in the National Comorbidity Survey replicationArch Gen Psychiatry20076454355210.1001/archpsyc.64.5.54317485606
  23. PeralaJSuvisaariJSaarniSIet alLifetime prevalence of psychotic and bipolar I disorders in a general populationArch Gen Psychiatry200764192810.1001/archpsyc.64.1.1917199051
  24. BrooksDSMurphyDJanotaILishmanWAEarly-onset Huntington’s chorea. Diagnostic cluesBr J Psychiatry198715185085210.1192/bjp.151.6.8502971414
  25. MarderKZhaoHMyersRHet alRate of functional decline in Huntington’s diseaseNeurology200054452458Erratum published in Neurology 2000;54:171210.1212/WNL.54.2.45210668713
  26. BeglingerLJLangbehnDRDuffKet alProbability of obsessive and compulsive symptoms in Huntington’s diseaseBiol Psychiatry20076141541810.1016/j.biopsych.2006.04.03416839521
  27. AndersonKELouisEDSternYMarderKSCognitive correlates of obsessive and compulsive symptoms in Huntington’s diseaseAm Jl Psychiatry200115879980110.1176/appi.ajp.158.5.799
  28. SimmonsJTPastakiaBChaseTNShultsCWMagnetic resonance imaging in Huntington diseaseAJNR Am J Neuroradiol1986725282937278
  29. AylwardEHSchwartzJMachlinSPearlsonGBicaudate ratio as a measure of caudate volume on MR imagesAJNR Am J Neuroradiol199112121712221763757
  30. MirowitzSASartorKPrenskyAJGadoMHodgesFJ3rdNeurodegenerative diseases of childhood: MR and CT evaluationJ Comput Assist Tomogr19911521022210.1097/00004728-199103000-000052002097
  31. 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
  32. 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
  33. DumasEMvan den BogaardSJRuberMEet alEarly changes in white matter pathways of the sensorimotor cortex in premanifest Huntington’s diseaseHum Brain Mapp20123320321210.1002/hbm.2120521264990
  34. BohannaIGeorgiou-KaristianisNEganGFConnectivity-based segmentation of the striatum in Huntington’s disease: vulnerability of motor pathwaysNeurobiol Dis20114247548110.1016/j.nbd.2011.02.01021382492
  35. DouaudGBehrensTEPouponCet alIn vivo evidence for the selective subcortical degeneration in Huntington’s diseaseNeuroImage20094695896610.1016/j.neuroimage.2009.03.04419332141
  36. MaybergHSStarksteinSEPeyserCEBrandtJDannalsRFFolsteinSEParalimbic frontal lobe hypometabolism in depression associated with Huntington’s diseaseNeurology1992421791179710.1212/WNL.42.9.17911387463
  37. VonsattelJPDiFigliaMHuntington diseaseJ Neuropathol Exp Neurol19985736938410.1097/00005072-199805000-000019596408
  38. RampoldiLDanekAMonacoAPClinical features and molecular bases of neuroacanthocytosisJl Mol Med20028047549110.1007/s00109-002-0349-z
  39. UenoSMarukiYNakamuraMet alThe gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosisNat Genet20012812112210.1038/8882511381254
  40. HardieRJPullonHWHardingAEet alNeuroacanthocytosis. A clinical, haematological and pathological study of 19 casesBrain1991114Pt 1A13491998879
  41. DanekASheesleyLTierneyMUttnerIGrafmanJCognitive and neuropsychiatric findings in McLeod syndrome and in chorea-acanthocytosisDanekAeditor.Neuroacanthocytosis syndromes.1st Edition.DordrechtSpringer2004p 95116
  42. SorrentinoGDe RenzoAMinielloSNoriOBonavitaVLate appearance of acanthocytes during the course of chorea-acanthocytosisJ Neurol Sci199917517810.1016/S0022-510X(99)00005-210371080
  43. WalterfangMYucelMWalkerRet alAdolescent obsessive compulsive disorder heralding chorea-acanthocytosisMov Disord20082342242510.1002/mds.2172518058950
  44. LossosADobson-StoneCMonacoAet alEarly clinical heterogeneity in choreoacanthocytosisArch Neurol20056261161410.1001/archneur.62.4.61115824261
  45. KartsounisLHardieRThe pattern of cognitive impairments in neuroacanthocytosisArch Neurol199653778010.1001/archneur.1996.005500100950228599563
  46. WalterfangMEvansALooiJCLet alThe neuropsychiatry of neuroacanthocytosis syndromesNeurosci Biobehav Rev2011351275128310.1016/j.neubiorev.2011.01.00121237198
  47. WalterfangMLooiJCStynerMet alShape alterations in the striatum in chorea-acanthocytosisPsychiatry Res2011192293610.1016/j.pscychresns.2010.10.00621377843
  48. SokolovESchneiderSABainPGChorea-acanthocytosisPract Neurol201212404310.1136/practneurol-2011-00004522258171
  49. TsaiCHChenRSChangHCLuCSLiaoKKAcanthocytosis and spinocerebellar degeneration: a new association?Mov Disord19971245645910.1002/mds.8701203339159749
  50. NichollDJSuttonIDottiMTSuppleSGDanekALawdenMWhite matter abnormalities on MRI in neuroacanthocytosisJ Neurol Neurosurg Psychiatry2004751200120110.1136/jnnp.2003.02678115258233
  51. KatsubeTShimonoTAshikagaRHosonoMKitagakiHMurakamiTDemonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblingsAJNR Am J Neuroradiol20093038638810.3174/ajnr.A128218945802
  52. 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
  53. PantelisCBarnesTNelsonHIs the concept of frontal-subcortical dementia relevant to schizophrenia?Br J Psychiatry199216044246010.1192/bjp.160.4.4421349250
  54. AouizerateBGuehlDCunyEet alPathophysiology of obsessive-compulsive disorder: a necessary link between phenomenology, neuropsychology, imagery and physiologyProg Neurobiol20047219522110.1016/j.pneurobio.2004.02.00415130710
  55. JungHHHergersbergMKneifelSet alMcLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findingsAnn Neurol20014938439210.1002/ana.7611261514
  56. DanekARubioJRampoldiLet alMcLeod neuroacanthocytosis: genotype and phenotypeAnn Neurol20015077576410.1002/ana.10035
  57. JungHHergersbergMKneifelSet alMcLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findingsAnn Neurol20014938439210.1002/ana.7611261514
  58. BrinMAHSymmansWMarshWRowlandLNeuropathology of McLeod phenotype is like chorea-acanthocytosisCan J Neuro Sci199320S23410.1016/0022-510X(93)90309-M
  59. RinneJDanielSScaravilliFPiresMHardingAMarsdenCThe neuropathological features of neuroacanthocytosisMov Disord1994929730410.1002/mds.8700903038041370
  60. HewerEDanekASchoserBet alMcLeod myopathy revisited: more neurogenic and less benignBrain20071303285329610.1093/brain/awm26918055495
  61. ZemanADanielsGTilleyLet alMcLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK genePsychiatr Genet20051529129310.1097/00041444-200512000-0001216314760
  62. VazquezMMartinezMElectroconvulsive therapy in neuroacanthocytosis or McLeod syndromeJ ECT200925727310.1097/YCT.0b013e31817b06e018997633
  63. MirandaMCastiglioniCFreyBHergersbergMDanekAJungHPhenotypic variability of a distinct deletion in McLeod syndromeMov Disord2007221358136110.1002/mds.2153617469188
  64. OeschnerMDanekAWinklerGMcLeod-Neuroakanthozytose: ein zu selten diagnostiziertes syndrom?Akt Neurologie19962324525010.1055/s-2007-1017870
  65. JungHHakerHSchizophrenia as a manifestation of X-linked McLeod-neuroacanthocytosis syndromeJ Clin Psychiatry20046572272310.4088/JCP.v65n0520c15163264
  66. 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
  67. DanekAUttnerIVoglTTatschKWittTCerebral involvement in McLeod syndromeNeurology19944411712010.1212/WNL.44.1.1178290045
  68. OeschnerMBuchertRBeyerWDanekAReduction of striatal glucose metabolism in McLeod choreaoacanthocytosisJ Neurol Neurosurg Psychiatry20017051752010.1136/jnnp.70.4.51711254778
  69. DydakUMuellerSSandorPMeierDBoesigerPJungHCerebral metabolic alterations in McLeod syndromeEur Neurol200656172310.1159/00009513616914926
  70. HolmesSEO’HearnERosenblattAet alA repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2Nat Genet20012937737810.1038/ng76011694876
  71. MargolisRO’HearnERosenblattAet alA disorder similar to Huntington’s disease is associated with a novel CAG repeat expansionAnn Neurol200150373380
  72. NicholasAPO’HearnEHolmesSEChenDTMargolisRLClinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutationMov Disord20041964164810.1002/mds.2007715197701
  73. StevaninGFujigasakiHLebreA-Set alHuntington’s disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genesBrain2003126Pt 71599160310.1093/brain/awg15512805114
  74. BardienSAbrahamsFSoodyallHet alA South African mixed ancestry family with Huntington disease-like 2: clinical and genetic featuresMov Disord2007222083208910.1002/mds.2167217708569
  75. RodriguesGGRWalkerRHBriceAet alHuntington’s disease-like 2 in Brazil—report of 4 patientsMov Disord2008232244224710.1002/mds.2222318816802
  76. RudnickiDPletnikovaOVonsattelJRossCMargolisRA comparison of Huntington disease and Huntington disease-like 2 neuropathologyJ Neuropathol Exp Neurol20086736637410.1097/NEN.0b013e31816b4aee18379432
  77. de BiePMullerPWijmengaCKlompLWMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesJ Med Genet20074467368810.1136/jmg.2007.05274617717039
  78. RathbunJNeuropsychological aspects of Wilson’s diseaseInt J Neurosci19968522122910.3109/002074596089866848734560
  79. MedaliaAScheinbergIPsychopathology in patients with Wilson’s diseaseAm J Psychiatry1989146662642712173
  80. SrinivasKSinhaSTalyAet alDominant psychiatric manifestations in Wilson’s disease: A diagnostic and therapeutic challengeJ Neurol Sci200826610410817904160
  81. AkilMSchwartzJADutchakDYuzbasiyan-GurkanVBrewerGJThe psychiatric presentations of Wilson’s diseaseJ Neuropsychiatry Clin Neurosci199133773821821256
  82. ShanmugiahASinhaSTalyAet alPsychiatric manifestations in Wilson’s disease: a cross-sectional analysisJ Neuropsychiatry Clin Neurosci200820818510.1176/appi.neuropsych.20.1.8118305288
  83. SeniowJBakTGajdaJPoniatowskaRCzlonkowskaACognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson’s diseaseMov Disord2002171077108310.1002/mds.1019512360563
  84. MedaliaAIsaacs-GlabermanKScheinbergINeuropsychological impairment in Wilson’s diseaseArch Neurol19884550250410.1001/archneur.1988.005202900300093358700
  85. Isaacs-GlabermanKMedaliaAScheinbergIVerbal recall and recognition abilities in patients with Wilson’s diseaseCortex19892535336110.1016/S0010-9452(89)80050-42805722
  86. DeningTThe neuropsychiatry of Wilson’s disease: a reviewInt J Psychiatry Med19912113514810.2190/BAFK-D0A7-Q1C4-V6671894453
  87. WichowiczHCubalaWSlawekJWilson’s disease associated with delusional disorderPsychiatry Clin Neurosci20066075876010.1111/j.1440-1819.2006.01592.x17109711
  88. StillerPKassubekJSchonfeldt-LeuconaCConnemannBWilson’s disease in psychiatric patientsPsychiatry Clin Neurosci20085664910.1046/j.1440-1819.2002.01071.x12485310
  89. KumawatBLSharmaCMTripathiGRalotTDixitSWilson’s disease presenting as isolated obsessive-compulsive disorderIndian J Med Sci20076160761010.4103/0019-5359.3704718025747
  90. 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
  91. RohJLeeTInitial and follow-up brain MRI findings and correlation with the clinical course in Wilson’s diseaseNeurology1994441064106810.1212/WNL.44.6.10648208401
  92. KingADWalsheJMKendallBEet alCranial MR imaging in Wilson’s diseaseAJR Am J Roentgenol19961671579158410.2214/ajr.167.6.89566018956601
  93. HitoshiSIwataMYoshikawaKMid-brain pathology of Wilson’s disease: MRI analysis of three casesJ Neurol Neurosurg Psychiatry19915462462610.1136/jnnp.54.7.6241895127
  94. HawkinsRMazziottaJPhelpsMWilson’s disease studied with FDG and positron-emission tomographyNeurology1987371707171110.1212/WNL.37.11.17073499583
  95. 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
  96. HayflickSJWestawaySKLevinsonBet alGenetic, clinical, and radiographic delineation of Hallervorden-Spatz syndromeN Engl J Med2003348334010.1056/NEJMoa02081712510040
  97. FreemanKGregoryATurnerABlascoPHogarthPHayflickSIntellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegenerationJ Intell Disabil Res20075141742610.1111/j.1365-2788.2006.00889.x
  98. CooperGRizzoMJonesRAdult-onset Hallervorden-Spatz syndrome presenting as cortical dementiaAlzheimer Dis Assoc Disord20001412012610.1097/00002093-200004000-0001010850751
  99. MarelliCPiacentiniSGaravagliaBGirottiFAlbaneseAClinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegenerationMov Disord20052020821210.1002/mds.2028215390030
  100. NardocciNRumiVCombiMAngeliniLMirabileDBruzzoneMComplex tics, stereotypies, and compulsive behavior as clinical presentation of a juvenile progressive dystonia suggestive of Hallervorden-Spatz diseaseMov Disord1994936937110.1002/mds.8700903228041384
  101. NicholasAEarnstKMarsonDAtypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsionsMov Disord20052088088610.1002/mds.2047615834858
  102. ScaranoVPellecchiaMFillaABaronePHallervorden-Spatz syndrome resembling a typical Tourette syndromeMov Disord20021761862010.1002/mds.1010512112223
  103. ÖnerÖÖnerPDedaGİçağasioğluDPsychotic disorder in a case with Hallervorden–Spatz diseaseActa Psychiatr Scand200310839439710.1034/j.1600-0447.2003.00159.x14531762
  104. MorphyMFeldmanJKilburnGHallervorden-Spatz disease in a psychiatric settingJ Clin Psychiatry19895066682914882
  105. AngeliniLNardocciNRumiVZorziCStradaLSavoiardoMHallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in lifeJ Neurol199223941742510.1007/BF008568051447570
  106. SavoiardoMHallidayWCNardocciNet alHallervorden-Spatz disease: MR and pathologic findingsAJNR Am J Neuroradiol1993141551628427079
  107. GuillermanRPThe eye-of-the-tiger signRadiology200021789589611110959
  108. 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
  109. DavieCABarkerGJMachadoCMillerDHLeesAJProton magnetic resonance spectroscopy in Steele-Richardson-Olszewski syndromeMov Disord19971276777110.1002/mds.8701205259380064
  110. McNeillABirchallDHayflickSJet alT2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulationNeurology200870(1614161910.1212/01.wnl.0000310985.40011.d618443312
  111. 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
  112. YoshidaKFurihataKTakedaSet alA mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humansNat Genet1995926727210.1038/ng0395-2677539672
  113. HellmanNGitlinJCeruloplasmin metabolism and functionAnnu Rev Nutr2002224395810.1146/annurev.nutr.22.012502.11445712055353
  114. MiyajimaHAceruloplasminemia, an iron metabolic disorderNeuropathology20032334535010.1046/j.1440-1789.2003.00521.x14719552
  115. MiyajimaHKohnoSTakahashiYYonekawaOKannoTEstimation of the gene frequency of aceruloplasminemia in JapanNeurology 119995361710.1212/WNL.53.3.617
  116. McNeillAPandolfoMKuhnJShangHMiyajimaHThe neurological presentation of ceruloplasmin gene mutationsEur Neurol20086020020510.1159/00014869118667828
  117. MiyajimaHTakahashiYKonoSHishidaAIshikawaKSakamotoMFrontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemiaJ Neurol200525299699710.1007/s00415-005-0796-x15765266
  118. WalterfangMMarchEVargheseDet alSchizophrenia-like psychosis and aceruloplasminemiaNeuropsychiatric Dis Treat2006257758110.2147/nedt.2006.2.4.577
  119. DaimonMMoriaiSSusaSYamataniKHosoyaTKatoTHypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brainNeuroradiology19994118518710.1007/s00234005073010206163
  120. MoritaHIkedaSYamamotoKet alHereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese familyAnn Neurol19953764665610.1002/ana.4103705157755360
  121. GrisoliMPipernoAChiappariniLMarianiRSavoirardoMMR imaging of cerebral cortical involvement in aceruloplasminemiaAm J Neuroradiol20052665766115760883
  122. HaackeEMChengNYHouseMJet alImaging iron stores in the brain usingMagn Reson Imaging20052312515733784
  123. McNeillAChinneryPFNeuroferritinopathy: update on clinical features and pathogenesisCurr Drug Targets2012131200120310.2174/13894501280200237522515742
  124. HautotDPankhurstQMorrisCCurtisABurnJDobsonJPreliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patientsBiochim Biophys Acta20071772212510.1016/j.bbadis.2006.09.01117097860
  125. LehnABoyleRBrownHAireyCMellickGNeuroferritinopathyParkinsonism Relat Disord20121890991510.1016/j.parkreldis.2012.06.02122818529
  126. ChinneryPCromptonDBirchallDJacksonMCoulthardALombesAet alClinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutationBrain200713011011910.1093/brain/awl31917142829
  127. WillisASawleGGuilbertPCurtisAPalatal tremor and cognitive decline in neuroferritinopathyJ Neurol Neurosurg Psychiatry200273919210.1136/jnnp.73.1.9112082064
  128. OhtaENagasakaTShindoKet alNeuroferritinopathy in a Japanese family with a duplication in the ferritin light chain geneNeurology2007701493149410.1212/01.wnl.0000310428.74624.9518413574
  129. MacielPCruzVConstanteMet alNeuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementNeurology20056560360510.1212/01.wnl.0000178224.81169.c216116125
  130. MirPEdwardsMCurtisABhatiaKQuinnNAdult-onset generalized dystonia due to a mutation in the neuroferritinopathy geneMov Disord20052024324510.1002/mds.2028015390032
  131. McNeillAGormanGKhanAHorvathRBlamireAMChinneryPFProgressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rateAJNR Am J Neuroradiol2012331810181310.3174/ajnr.A303622499840
  132. KoideRIkeuchiTOnoderaOet alUnstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)Nat Genet1994691310.1038/ng0194-98136840
  133. AdachiNArimaKAsadaTet alDentatorubral-pallidoluysian atrophy (DRPLA) presenting with psychosisJ NeuroPsychiatry Clin Neurosci20011325826010.1176/appi.neuropsych.13.2.25811449034
  134. SimpsonMSmithAKentHRoxburghRNeurological picture. Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophyJ Neurol Neurosurg Psychiatry20128352953010.1136/jnnp-2011-30161222362920
  135. YoshiiFTomiyasuHShinoharaYFluid attenuation inversion recovery (FLAIR) images of dentatorubropallidoluysian atrophy: case reportJ Neurol Neurosurg Psychiatry19986539639910.1136/jnnp.65.3.3969728961
  136. UyamaEKondoIUchinoMet alDentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a familyJ Neurolog Sci199513014615310.1016/0022-510X(95)00019-X
  137. SunamiYKoideRAraiNYamadaMMizutaniTOyanagiKRadiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophyAJNR Am J Neuroradiol20113210911420966051
  138. WalterfangMVelakoulisDWhitfordTJPantelisCUnderstanding aberrant white matter development in schizophrenia: an avenue for therapy?Expert Rev Neurother20111197198710.1586/ern.11.7621721915
  139. WalterfangMWoodSJVelakoulisDCopolovDPantelisCDiseases of white matter and schizophrenia-like psychosisAust N Z J Psychiatry20053974675610.1080/j.1440-1614.2005.01678.x16168032
  140. WalterfangMWoodSJVelakoulisDPantelisCNeuropathological, neurogenetic and neuroimaging evidence for white matter pathology in schizophreniaNeurosci Biobehav Rev20063091894810.1016/j.neubiorev.2006.02.00116580728
  141. BonelliRMCummingsJLFrontal-subcortical dementiasNeurologist20081410010710.1097/NRL.0b013e31815b0de218332839
  142. GeschwindDHFocusing attention on cognitive impairment in spinocerebellar ataxiaArch Neurol199956202210.1001/archneur.56.1.209923755
  143. KishSJel-AwarMStussDet alNeuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severityNeurology1994441738174610.1212/WNL.44.9.17387936307
  144. LiszewskiCMO’HearnELeroiIGourleyLRossCAMargolisRLCognitive impairment and psychiatric symptoms in 133 patients with diseases associated with cerebellar degenerationJ Neuropsychiatry Clin Neurosci20041610911210.1176/appi.neuropsych.16.1.10914990766
  145. LeroiIO’HearnEMarshLet alPsychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington’s diseaseAm J Psychiatry20021591306131410.1176/appi.ajp.159.8.130612153822
  146. MascalchiMSpinocerebellar ataxiasNeurolog Sci200829Suppl 331133310.1007/s10072-008-1005-3
  147. SavoiardoMStradaLGirottiFet alOlivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophyRadiology1990174Pt 16936962305051
  148. BradacGBRivaAMortaraPOrsiLRiccioAPrimary progressive cerebellar ataxiaNeuroradiology19893116182716998
  149. 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
  150. 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
  151. MandelliMLDe SimoneTMinatiLet alDiffusion tensor imaging of spinocerebellar ataxias types 1 and 2AJNR Am J Neuroradiol2007281996200010.3174/ajnr.A071617998418
  152. 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
  153. D’AgataFCaroppoPBoghiAet alLinking coordinative and executive dysfunctions to atrophy in spinocerebellar ataxia 2 patientsBrain Struct Funct201121627528810.1007/s00429-011-0310-421461742
  154. ReetzKKleimanAKleinCet alCAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM studyPloS One20116e1512510.1371/journal.pone.001512521311576
  155. BrockmannKReimoldMGlobasCet alPET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17J Nucl Med2012531074108010.2967/jnumed.111.10154322653791
  156. AndreasenNCNopoulosPO’LearyDSMillerDDWassinkTFlaumMDefining the phenotype of schizophrenia: cognitive dysmetria and its neural mechanismsBiol Psychiatry19994690892010.1016/S0006-3223(99)00152-310509174
  157. BlomqvistMGieselmannVManssonJEAccumulation of lysosulfatide in the brain of arylsulfatase A-deficient miceLipids Health Dis2011102810.1186/1476-511X-10-2821299873
  158. 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
  159. 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
  160. AmaducciLSorbiSPiacentiniSBickKLThe first Alzheimer disease case: a metachromatic leukodystrophy?Dev Neurosci19911318618710.1159/0001121581726217
  161. SalmonEVan der LindenMMaerfens NoordhoutAet alEarly thalamic and cortical hypometabolism in adult-onset dementia due to metachromatic leukodystrophyActa Neurolog Belg199999185188
  162. JohannsenPEhlersLHansenHJDementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophyDement Geriatr Cogn Disord200112858810.1159/00005124011173879
  163. BarkhofFScheltensPImaging of white matter lesionsCerebrovasc Dis200213Suppl 2213010.1159/00004914611901239
  164. CheonJEKimIOHwangYSet alLeukodystrophy in children: a pictorial review of MR imaging featuresRadiographics20022246147612006681
  165. KruseBHanefeldFChristenHJet alAlterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivoJ Neurol1993241687410.1007/BF008697667908027
  166. HydeTMZieglerJCWeinbergerDRPsychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosisArch Neurol19924940140610.1001/archneur.1992.005302800950281532712
  167. 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
  168. NaureckieneSSleatDELacklandHet alIdentification of HE1 as the second gene of Niemann-Pick C diseaseScience20002902298230110.1126/science.290.5500.229811125141
  169. SevinMLescaGBaumannNet alThe adult form of Niemann-Pick disease type CBrain2007130Pt 112013317003072
  170. WalterfangMFaheyMDesmondPet alWhite and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional studyNeurology201075495610.1212/WNL.0b013e3181e6210e20484681
  171. WalterfangMFietzMFaheyMet alThe neuropsychiatry of Niemann-Pick type C disease in adulthoodJ Neuropsychiatry Clin Neurosci20061815817010.1176/appi.neuropsych.18.2.15816720792
  172. SullivanDWalterfangMVelakoulisDBipolar disorder and Niemann-Pick disease type CAm J Psychiatry20051621021102210.1176/appi.ajp.162.5.1021-a15863815
  173. ImrieJVijayaraghavenSWhitehouseCet alNiemann-Pick disease type C in adultsJ Inherit Metab Dis20022549150010.1023/A:102125940319612555942
  174. 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
  175. 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
  176. WalterfangMPatenaudeBAbelLAet alSubcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional studyAJNR Am J Neuroradiol201334(7)13344010.3174/ajnr.A3356.23237858
  177. KumarAChuganiHTNiemann-Pick disease type C: unique 2-deoxy-2[(1)(8)F] fluoro-D-glucose PET abnormalityPediatric Neurol201144576010.1016/j.pediatrneurol.2010.08.004
  178. PantelisCBarnesTRNelsonHEIs the concept of frontal-subcortical dementia relevant to schizophrenia?Br J Psychiatry199216044246010.1192/bjp.160.4.4421349250
  179. AndreasenNParadisoSO’LearyD“Cognitive dysmetria” as an integrative theory of schizophrenia: a dysfunction in cortical-subcortical-cerebellar circuitry?Schizophr Bull19982420321810.1093/oxfordjournals.schbul.a0333219613621
  180. KimuraMMatsumotoNNeuronal activity in the basal ganglia. Functional implicationsAdv Neurol1997741111189348406
  181. WalterfangMPsychiatric aspects of the neurodegenerative choreasWalkerRHeditor.The differential diagnosis of chorea.OxfordOxford University Press2011p 369406
  182. 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
DOI: https://doi.org/10.5334/tohm.168 | Journal eISSN: 2160-8288
Language: English
Submitted on: Apr 17, 2013
|
Accepted on: Jul 8, 2013
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Published on: Aug 26, 2013
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2013 Bradleigh D. Hayhow, Islam Hassan, Jeffrey C. L. Looi, Francesco Gaillard, Dennis Velakoulis, Mark Walterfang, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.