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Volumn 84, Issue 6, 2013, Pages 650-656

The differential diagnosis of Huntington's diseaselike syndromes: 'Red flags' for the clinician

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA; BEHAVIOR DISORDER; BLOOD EXAMINATION; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ETHNICITY; EYE MOVEMENT DISORDER; GAIT DISORDER; HUMAN; HUNTINGTON CHOREA; HUNTINGTON DISEASE LIKE SYNDROME; MEDICAL HISTORY; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REVIEW; SEIZURE;

EID: 84877630721     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-302532     Document Type: Review
Times cited : (62)

References (49)
  • 1
    • 80052544727 scopus 로고    scopus 로고
    • Huntington's disease: Clinical presentation and treatment
    • Novak MJ, Tabrizi SJ. Huntington's disease: clinical presentation and treatment. Int Rev Neurobiol 2011;98:297-323.
    • (2011) Int Rev Neurobiol , vol.98 , pp. 297-323
    • Novak, M.J.1    Tabrizi, S.J.2
  • 2
    • 44449161332 scopus 로고    scopus 로고
    • Huntington's disease phenocopies are clinically and genetically heterogeneous
    • Wild EJ, Mudanohwo EE, Sweeney MG, et al. Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord 2008;23:716-20.
    • (2008) Mov Disord , vol.23 , pp. 716-720
    • Wild, E.J.1    Mudanohwo, E.E.2    Sweeney, M.G.3
  • 5
    • 84864568526 scopus 로고    scopus 로고
    • Neuroferritinopathy: Update on clinical features and pathogenesis
    • McNeill A, Chinnery PF. Neuroferritinopathy: update on clinical features and pathogenesis. Curr Drug Targets 2012;13:1200-3.
    • (2012) Curr Drug Targets , vol.13 , pp. 1200-1203
    • McNeill, A.1    Chinnery, P.F.2
  • 6
    • 77958538143 scopus 로고    scopus 로고
    • Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States
    • Ondo WG, Adam OR, Jankovic J, et al. Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. Mov Disord 2010;25:2470-2.
    • (2010) Mov Disord , vol.25 , pp. 2470-2472
    • Ondo, W.G.1    Adam, O.R.2    Jankovic, J.3
  • 7
    • 14044276904 scopus 로고    scopus 로고
    • The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population
    • DOI 10.1111/j.1600-0404.2005.00349.x
    • Juvonen V, Vietala M, Kairisto V, et al. The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population. Acta Neurol Scand 2005;111:154-62. (Pubitemid 40278580)
    • (2005) Acta Neurologica Scandinavica , vol.111 , Issue.3 , pp. 154-162
    • Juvonen, V.1    Hietala, M.2    Kairisito, V.3    Savontaus, M.-L.4
  • 9
    • 75749146981 scopus 로고    scopus 로고
    • Tongue protrusion and feeding dystonia: A hallmark of chorea-acanthocytosis
    • Bader B, Walzer RH, Vogel M, et al. Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. Mov Disord 2010;25:127-9.
    • (2010) Mov Disord , vol.25 , pp. 127-129
    • Bader, B.1    Walzer, R.H.2    Vogel, M.3
  • 10
    • 77954984814 scopus 로고    scopus 로고
    • Characteristic head drops and axial extension in advanced chorea-acanthocytosis
    • Schneider SA, Lang AE, Moro E, et al. Characteristic head drops and axial extension in advanced chorea-acanthocytosis. Mov Disord 2010;25:1487-91.
    • (2010) Mov Disord , vol.25 , pp. 1487-1491
    • Schneider, S.A.1    Lang, A.E.2    Moro, E.3
  • 13
    • 79954460490 scopus 로고    scopus 로고
    • Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)
    • Kurian MA, McNeill A, Lin JP, et al. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol 2011;53: 394-404.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 394-404
    • Kurian, M.A.1    McNeill, A.2    Lin, J.P.3
  • 15
    • 77953512439 scopus 로고    scopus 로고
    • Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
    • Paisan-Ruiz C, Guevara R, Federoff M, et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 2010;25:1791-800.
    • (2010) Mov Disord , vol.25 , pp. 1791-1800
    • Paisan-Ruiz, C.1    Guevara, R.2    Federoff, M.3
  • 17
    • 65849116838 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
    • Stevanin G, Brice A. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). Cerebellum 2008;7:170-8.
    • (2008) Cerebellum , vol.7 , pp. 170-178
    • Stevanin, G.1    Brice, A.2
  • 18
    • 79961152599 scopus 로고    scopus 로고
    • Dentatorubral-pallidoluysian atrophy
    • Tsuji S. Dentatorubral-pallidoluysian atrophy. Handb Clin Neurol 2012;103:587-94.
    • (2012) Handb Clin Neurol , vol.103 , pp. 587-594
    • Tsuji, S.1
  • 20
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • Geschwind DH, Perlman S, Figueroa CP, et al. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-50. (Pubitemid 27146492)
    • (1997) American Journal of Human Genetics , vol.60 , Issue.4 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 22
    • 84867328366 scopus 로고    scopus 로고
    • Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion
    • Published Online First: 2 February
    • Koutsis G, Karadima G, Pandraud A, et al. Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion. J Neurol. Published Online First: 2 February 2012.
    • (2012) J Neurol
    • Koutsis, G.1    Karadima, G.2    Pandraud, A.3
  • 23
    • 0036589837 scopus 로고    scopus 로고
    • Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion
    • DOI 10.1002/mds.10175
    • Zhu D, Burke C, Leslie A, et al. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Mov Disord 2002;17:585-9. (Pubitemid 36040975)
    • (2002) Movement Disorders , vol.17 , Issue.3 , pp. 585-589
    • Zhu, D.1    Burke, C.2    Leslie, A.3    Nicholson, G.A.4
  • 25
    • 3242876404 scopus 로고    scopus 로고
    • Ataxia-teleangiectasia, en evolvine phenotype
    • Chun HH, Gatti RA. Ataxia-teleangiectasia, en evolvine phenotype. DNA Repair (Amst.) 2004;3:1187-96.
    • (2004) DNA Repair (Amst.) , vol.3 , pp. 1187-1196
    • Chun, H.H.1    Gatti, R.A.2
  • 27
    • 70349957925 scopus 로고    scopus 로고
    • Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
    • Anheim M, Monga B, Fleury M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 2009;132:2688-98.
    • (2009) Brain , vol.132 , pp. 2688-2698
    • Anheim, M.1    Monga, B.2    Fleury, M.3
  • 28
    • 77949903006 scopus 로고    scopus 로고
    • Neurologic Wilson's disease
    • Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010;1184:173-87.
    • (2010) Ann N y Acad Sci , vol.1184 , pp. 173-187
    • Lorincz, M.T.1
  • 29
    • 77953338445 scopus 로고    scopus 로고
    • ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
    • Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010;25:979-84.
    • (2010) Mov Disord , vol.25 , pp. 979-984
    • Schneider, S.A.1    Paisan-Ruiz, C.2    Quinn, N.P.3
  • 31
    • 70350550328 scopus 로고    scopus 로고
    • Development of mesial temporal lobe epilepsy in chorea-acanthocytosis
    • Scheid R, Bader B, Ott DV, et al. Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. Neurology 2009;73:1419-22.
    • (2009) Neurology , vol.73 , pp. 1419-1422
    • Scheid, R.1    Bader, B.2    Ott, D.V.3
  • 32
    • 0032722354 scopus 로고    scopus 로고
    • Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene
    • Laplanche JL, El Hachimi KH, Durieux I, et al. Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain 1999;122:2375-86.
    • (1999) Brain , vol.122 , pp. 2375-2386
    • Laplanche, J.L.1    El Hachimi, K.H.2    Durieux, I.3
  • 33
    • 0043092465 scopus 로고    scopus 로고
    • Chorea as a presenting feature of variant Creutzfeldt-Jakob disease
    • DOI 10.1002/mds.10423
    • McKee D, Talbot P. Chorea as a presenting feature of variant Creutzfeldt-Jakob disease. Mov Disord 2003;18:837-8. (Pubitemid 36939985)
    • (2003) Movement Disorders , vol.18 , Issue.7 , pp. 837-838
    • McKee, D.1    Talbot, P.2
  • 36
    • 57049181326 scopus 로고    scopus 로고
    • Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation
    • Glik A, Vuillaume I, Devos D, et al. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 2008;23:1744-7.
    • (2008) Mov Disord , vol.23 , pp. 1744-1747
    • Glik, A.1    Vuillaume, I.2    Devos, D.3
  • 37
    • 80055091462 scopus 로고    scopus 로고
    • Expanding the phenomenology of benign hereditary chorea: Evolution from chorea to myoclonus and dystonia
    • Armstrong MJ, Shah BB, Chen R, et al. Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. Mov Disord 2011;26:2296-7.
    • (2011) Mov Disord , vol.26 , pp. 2296-2297
    • Armstrong, M.J.1    Shah, B.B.2    Chen, R.3
  • 38
    • 78349243626 scopus 로고    scopus 로고
    • Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases
    • Maccabelli G, Pichiecchio A, Guala A, et al. Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. Mov Disord 2010;25:2670-4.
    • (2010) Mov Disord , vol.25 , pp. 2670-2674
    • MacCabelli, G.1    Pichiecchio, A.2    Guala, A.3
  • 39
    • 84866633979 scopus 로고    scopus 로고
    • Benign hereditary chorea 2: Pathological findings in an autopsy case
    • Published Online First: 12 January, doi:10.1111/j.1440-1789.2011.01288.x
    • Yoshida Y, Nunomura J, Shimomata T, et al. Benign hereditary chorea 2: pathological findings in an autopsy case. Neuropathology. Published Online First: 12 January 2012. doi:10.1111/j.1440-1789.2011.01288.x
    • (2012) Neuropathology
    • Yoshida, Y.1    Nunomura, J.2    Shimomata, T.3
  • 42
    • 79952708733 scopus 로고    scopus 로고
    • Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms
    • Akhlaghi H, Corben L, Georgiou-Karistianis N, et al. Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms. Cerebellum 2011;10:81-7.
    • (2011) Cerebellum , vol.10 , pp. 81-87
    • Akhlaghi, H.1    Corben, L.2    Georgiou-Karistianis, N.3
  • 43
    • 79955024136 scopus 로고    scopus 로고
    • Brain diffusion-weighted imaging in Friedreich's ataxia
    • Rizzo G, Tonon C, Valentino ML, et al. Brain diffusion-weighted imaging in Friedreich's ataxia. Mov Disord 2011;26:705-12.
    • (2011) Mov Disord , vol.26 , pp. 705-712
    • Rizzo, G.1    Tonon, C.2    Valentino, M.L.3
  • 44
    • 77957337155 scopus 로고    scopus 로고
    • (1) H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2
    • Iltis I, Hutter D, Bushara KO, et al. (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. Brain Res 2010;1358: 200-10.
    • (2010) Brain Res , vol.1358 , pp. 200-210
    • Iltis, I.1    Hutter, D.2    Bushara, K.O.3
  • 46
    • 84859383165 scopus 로고    scopus 로고
    • Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing
    • Walzer RH, Schulz VP, Tikhonova IR, et al. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Mov Disord 2012;27:539-43.
    • (2012) Mov Disord , vol.27 , pp. 539-543
    • Walzer, R.H.1    Schulz, V.P.2    Tikhonova, I.R.3
  • 47
    • 80052383976 scopus 로고    scopus 로고
    • Targeting several CAG expansion diseases by a single antisense oligonucleotide
    • Evers MM, Pepers BA, van Deutekom JC, et al. Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One 2011;6: e24308.
    • (2011) PLoS One , vol.6
    • Evers, M.M.1    Pepers, B.A.2    Van Deutekom, J.C.3
  • 48
    • 84864532561 scopus 로고    scopus 로고
    • Pantothenate kinase-associated neurodegeneration
    • Hartig MB, Prokisch H, Meitinger T, et al. Pantothenate kinase-associated neurodegeneration. Curr Drug Targets 2012;13:1182-9.
    • (2012) Curr Drug Targets , vol.13 , pp. 1182-1189
    • Hartig, M.B.1    Prokisch, H.2    Meitinger, T.3
  • 49
    • 84858296994 scopus 로고    scopus 로고
    • Deep brain stimulation in the treatment of chorea
    • Edwards TC, Zrinzo L, Limousin P, et al. Deep brain stimulation in the treatment of chorea. Mov Disord 2012;27:357-63.
    • (2012) Mov Disord , vol.27 , pp. 357-363
    • Edwards, T.C.1    Zrinzo, L.2    Limousin, P.3


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