메뉴 건너뛰기




Volumn 260, Issue 10, 2013, Pages 2523-2531

Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease

Author keywords

Gaucher disease; GBA mutation; Glucocerebrosidase; Parkinson's disease; Substantia nigra hyperechogenicity

Indexed keywords

GLUCOSYLCERAMIDASE;

EID: 84886092382     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7011-2     Document Type: Article
Times cited : (19)

References (47)
  • 1
    • 66949152096 scopus 로고    scopus 로고
    • Parkinson's disease
    • 19524782 10.1016/S0140-6736(09)60492-X 1:CAS:528:DC%2BD1MXnt1ans7w%3D
    • Lees AJ, Hardy J, Revesz T (2009) Parkinson's disease. Lancet 373:2055-2066
    • (2009) Lancet , vol.373 , pp. 2055-2066
    • Lees, A.J.1    Hardy, J.2    Revesz, T.3
  • 2
    • 0029773625 scopus 로고    scopus 로고
    • Occurrence of Parkinson's syndrome in type i Gaucher disease
    • 8917744 10.1093/qjmed/89.9.691 1:STN:280:DyaK2s%2FnsFemsQ%3D%3D
    • Neudorfer O, Giladi N, Elstein D et al (1996) Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 89:691-694
    • (1996) QJM , vol.89 , pp. 691-694
    • Neudorfer, O.1    Giladi, N.2    Elstein, D.3
  • 3
    • 0034848419 scopus 로고    scopus 로고
    • Gaucher disease and Parkinsonism: A phenotypic and genotypic characterization
    • 11509013 10.1006/mgme.2001.3201 1:CAS:528:DC%2BD3MXlvFKgtbY%3D
    • Tayebi N, Callahan M, Madike V et al (2001) Gaucher disease and Parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 73:313-321
    • (2001) Mol Genet Metab , vol.73 , pp. 313-321
    • Tayebi, N.1    Callahan, M.2    Madike, V.3
  • 4
    • 54049097933 scopus 로고    scopus 로고
    • The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
    • 18852351 10.1001/archneur.65.10.1353
    • Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E (2008) The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 65:1353-1357
    • (2008) Arch Neurol , vol.65 , pp. 1353-1357
    • Goker-Alpan, O.1    Lopez, G.2    Vithayathil, J.3    Davis, J.4    Hallett, M.5    Sidransky, E.6
  • 5
    • 12444296116 scopus 로고    scopus 로고
    • Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to Parkinsonism?
    • 12809640 10.1016/S1096-7192(03)00071-4 1:CAS:528:DC%2BD3sXksVGlt78%3D
    • Tayebi N, Walker J, Stubblefield B et al (2003) Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to Parkinsonism? Mol Genet Metab 79:104-109
    • (2003) Mol Genet Metab , vol.79 , pp. 104-109
    • Tayebi, N.1    Walker, J.2    Stubblefield, B.3
  • 6
    • 69849084698 scopus 로고    scopus 로고
    • Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature
    • 19513999 10.1002/mds.22593
    • Kraoua I, Stirnemann J, Ribeiro MJ et al (2009) Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature. Mov Disord 24:1524-1530
    • (2009) Mov Disord , vol.24 , pp. 1524-1530
    • Kraoua, I.1    Stirnemann, J.2    Ribeiro, M.J.3
  • 7
    • 79960009804 scopus 로고    scopus 로고
    • Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
    • 21700325 10.1016/j.cell.2011.06.001 1:CAS:528:DC%2BC3MXoslCksrk%3D
    • Mazzulli JR, Xu YH, Sun Y et al (2011) Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146:37-52
    • (2011) Cell , vol.146 , pp. 37-52
    • Mazzulli, J.R.1    Xu, Y.H.2    Sun, Y.3
  • 8
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • 19846850 10.1056/NEJMoa0901281 1:CAS:528:DC%2BD1MXhtlWgs77P
    • Sidransky E, Nalls MA, Aasly JO et al (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361:1651-1661
    • (2009) N Engl J Med , vol.361 , pp. 1651-1661
    • Sidransky, E.1    Nalls, M.A.2    Aasly, J.O.3
  • 9
    • 79956324138 scopus 로고    scopus 로고
    • Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
    • 20947659 10.1093/hmg/ddq454 1:CAS:528:DC%2BC3cXhsFGgsbbM
    • Lesage S, Anheim M, Condroyer C et al (2011) Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 20:202-210
    • (2011) Hum Mol Genet , vol.20 , pp. 202-210
    • Lesage, S.1    Anheim, M.2    Condroyer, C.3
  • 10
    • 46049112735 scopus 로고    scopus 로고
    • Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
    • 18434642 10.1212/01.wnl.0000304039.11891.29 1:CAS:528: DC%2BD1cXmsFylsrk%3D
    • Gan-Or Z, Giladi N, Rozovski U et al (2008) Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 70:2277-2283
    • (2008) Neurology , vol.70 , pp. 2277-2283
    • Gan-Or, Z.1    Giladi, N.2    Rozovski, U.3
  • 12
    • 0030056696 scopus 로고    scopus 로고
    • Risk of Parkinson's disease among first-degree relatives: A community-based study
    • 8710070 10.1212/WNL.47.1.155 1:STN:280:DyaK283ptFSgtg%3D%3D
    • Marder K, Tang MX, Mejia H et al (1996) Risk of Parkinson's disease among first-degree relatives: a community-based study. Neurology 47:155-160
    • (1996) Neurology , vol.47 , pp. 155-160
    • Marder, K.1    Tang, M.X.2    Mejia, H.3
  • 13
    • 84874208978 scopus 로고    scopus 로고
    • Enlarged hyperechogenic substantia nigra as a risk marker for Parkinson's disease
    • 23115051 10.1002/mds.25192 1:CAS:528:DC%2BC3sXktlCgsLk%3D
    • Berg D, Seppi K, Behnke S et al (2013) Enlarged hyperechogenic substantia nigra as a risk marker for Parkinson's disease. Mov Disord 28:216-219
    • (2013) Mov Disord , vol.28 , pp. 216-219
    • Berg, D.1    Seppi, K.2    Behnke, S.3
  • 14
    • 53649086350 scopus 로고    scopus 로고
    • Transcranial sonography in movement disorders
    • 18940694 10.1016/S1474-4422(08)70239-4
    • Berg D, Godau J, Walter U (2008) Transcranial sonography in movement disorders. Lancet Neurol 7:1044-1055
    • (2008) Lancet Neurol , vol.7 , pp. 1044-1055
    • Berg, D.1    Godau, J.2    Walter, U.3
  • 15
    • 0036279410 scopus 로고    scopus 로고
    • Echogenicity of the substantia nigra: Association with increased iron content and marker for susceptibility to nigrostriatal injury
    • 12056937 10.1001/archneur.59.6.999
    • Berg D, Roggendorf W, Schröder U et al (2002) Echogenicity of the substantia nigra: association with increased iron content and marker for susceptibility to nigrostriatal injury. Arch Neurol 59:999-1005
    • (2002) Arch Neurol , vol.59 , pp. 999-1005
    • Berg, D.1    Roggendorf, W.2    Schröder, U.3
  • 16
    • 77954972471 scopus 로고    scopus 로고
    • Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization
    • 20629126 10.1002/mds.23046
    • Saunders-Pullman R, Hagenah J, Dhawan V et al (2010) Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord 25:1364-1372
    • (2010) Mov Disord , vol.25 , pp. 1364-1372
    • Saunders-Pullman, R.1    Hagenah, J.2    Dhawan, V.3
  • 17
    • 80051481698 scopus 로고    scopus 로고
    • GBA-associated PD presents with nonmotor characteristics
    • 21734182 10.1212/WNL.0b013e318225ab77 1:CAS:528:DC%2BC3MXptVeqsbg%3D
    • Brockmann K, Srulijes K, Hauser AK et al (2011) GBA-associated PD presents with nonmotor characteristics. Neurology 77:276-280
    • (2011) Neurology , vol.77 , pp. 276-280
    • Brockmann, K.1    Srulijes, K.2    Hauser, A.K.3
  • 18
    • 84873731061 scopus 로고    scopus 로고
    • Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease
    • 23062841 10.1016/j.parkreldis.2012.09.007 1:STN:280: DC%2BC3s%2FkvVyhsg%3D%3D
    • Barrett MJ, Hagenah J, Dhawan V et al (2013) Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease. Parkinsonism Relat Disord 19:186-191
    • (2013) Parkinsonism Relat Disord , vol.19 , pp. 186-191
    • Barrett, M.J.1    Hagenah, J.2    Dhawan, V.3
  • 19
    • 84875240657 scopus 로고    scopus 로고
    • Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations
    • 23332636 10.1016/j.parkreldis.2012.12.006
    • Kresojević N, Mijajlović M, Perić S et al (2013) Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations. Parkinsonism Relat Disord 19:431-435
    • (2013) Parkinsonism Relat Disord , vol.19 , pp. 431-435
    • Kresojević, N.1    Mijajlović, M.2    Perić, S.3
  • 20
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
    • 1564476 10.1136/jnnp.55.3.181 1:STN:280:DyaK383is1Omsg%3D%3D
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55:181-184
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 21
    • 0000224448 scopus 로고
    • Unified Parkinson's disease rating scale
    • Members of the UPDRS Development Committee S. Fahn C.D. Marsden M. Goldstein D.B. Calne (eds) Macmillan New York
    • Fahn S, Elton RL, Members of the UPDRS Development Committee (1987) Unified Parkinson's disease rating scale. In: Fahn S, Marsden CD, Goldstein M, Calne DB (eds) Recent developments in Parkinson's disease II, 1st edn. Macmillan, New York, pp 153-163
    • (1987) Recent Developments in Parkinson's Disease II, 1st Edn , pp. 153-163
    • Fahn, S.1    Elton, R.L.2
  • 22
    • 0038353582 scopus 로고    scopus 로고
    • Parkinsonian signs in older people: Prevalence and associations with smoking and coffee
    • 12847151 10.1212/01.WNL.0000072330.07328.D6
    • Louis ED, Luchsinger JA, Tang MX, Mayeux R (2003) Parkinsonian signs in older people: prevalence and associations with smoking and coffee. Neurology 61:24-28
    • (2003) Neurology , vol.61 , pp. 24-28
    • Louis, E.D.1    Luchsinger, J.A.2    Tang, M.X.3    Mayeux, R.4
  • 23
    • 70350654728 scopus 로고
    • An inventory for measuring depression
    • 13688369 10.1001/archpsyc.1961.01710120031004 1:STN:280: DyaF3c%2FgslKisg%3D%3D
    • Beck AT, Ward CH, Mendelson M, Mock J, Erbaugh J (1961) An inventory for measuring depression. Arch Gen Psychiatry 4:561-571
    • (1961) Arch Gen Psychiatry , vol.4 , pp. 561-571
    • Beck, A.T.1    Ward, C.H.2    Mendelson, M.3    Mock, J.4    Erbaugh, J.5
  • 24
    • 0034779994 scopus 로고    scopus 로고
    • Screening of olfactory function with a four-minute odor identification test: Reliability, normative data, and investigations in patients with olfactory loss
    • 11642433 1:STN:280:DC%2BD3Mrmt1yltQ%3D%3D
    • Hummel T, Konnerth CG, Rosenheim K, Kobal G (2001) Screening of olfactory function with a four-minute odor identification test: reliability, normative data, and investigations in patients with olfactory loss. Ann Otol Rhinol Laryngol 110:976-981
    • (2001) Ann Otol Rhinol Laryngol , vol.110 , pp. 976-981
    • Hummel, T.1    Konnerth, C.G.2    Rosenheim, K.3    Kobal, G.4
  • 26
    • 0016823810 scopus 로고
    • Mini-mental state. A practical method for grading the cognitive state of patients for the clinician
    • 1202204 10.1016/0022-3956(75)90026-6 1:STN:280:DyaE28%2FntFKjtw%3D%3D
    • Folstein MF, Folstein SE, McHugh PR (1975) Mini-mental state. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12:189-198
    • (1975) J Psychiatr Res , vol.12 , pp. 189-198
    • Folstein, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 27
    • 0000119553 scopus 로고
    • The validity of the Trail Making Test as an indicator of organic brain damage
    • Reitan RM (1958) The validity of the Trail Making Test as an indicator of organic brain damage. Percept Mot Skills 8:271-276
    • (1958) Percept Mot Skills , vol.8 , pp. 271-276
    • Reitan, R.M.1
  • 28
    • 84857999266 scopus 로고    scopus 로고
    • Value of combined midbrain sonography, olfactory and motor function assessment in the differential diagnosis of early Parkinson's disease
    • 22362921 10.1136/jnnp-2011-301719
    • Busse K, Heilmann R, Kleinschmidt S et al (2012) Value of combined midbrain sonography, olfactory and motor function assessment in the differential diagnosis of early Parkinson's disease. J Neurol Neurosurg Psychiatry 83:441-447
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , pp. 441-447
    • Busse, K.1    Heilmann, R.2    Kleinschmidt, S.3
  • 33
    • 0033045138 scopus 로고    scopus 로고
    • T1 and T2 in the brain of healthy subjects, patients with Parkinson disease, and patients with multiple system atrophy: Relation to iron content
    • 10228533 1:STN:280:DyaK1M3ksFaitQ%3D%3D
    • Vymazal J, Righini A, Brooks RA et al (1999) T1 and T2 in the brain of healthy subjects, patients with Parkinson disease, and patients with multiple system atrophy: relation to iron content. Radiology 211:489-495
    • (1999) Radiology , vol.211 , pp. 489-495
    • Vymazal, J.1    Righini, A.2    Brooks, R.A.3
  • 34
    • 0029917235 scopus 로고    scopus 로고
    • Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease
    • 8780099 10.1212/WNL.46.4.1102 1:STN:280:DyaK28zntlyjug%3D%3D
    • Seeman PJ, Finckh U, Höppner J et al (1996) Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. Neurology 46:1102-1107
    • (1996) Neurology , vol.46 , pp. 1102-1107
    • Seeman, P.J.1    Finckh, U.2    Höppner, J.3
  • 35
    • 0033911997 scopus 로고    scopus 로고
    • Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
    • 10796875 10.1086/302925 1:CAS:528:DC%2BD3cXntV2jtbo%3D
    • Koprivica V, Stone DL, Park JK et al (2000) Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 66:1777-1786
    • (2000) Am J Hum Genet , vol.66 , pp. 1777-1786
    • Koprivica, V.1    Stone, D.L.2    Park, J.K.3
  • 36
    • 27744519517 scopus 로고    scopus 로고
    • Hematologically important mutations: Gaucher disease
    • 16185900 10.1016/j.bcmd.2005.07.005 1:CAS:528:DC%2BD2MXht1aqu7rE
    • Beutler E, Gelbart T, Scott CR (2005) Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 35:355-364
    • (2005) Blood Cells Mol Dis , vol.35 , pp. 355-364
    • Beutler, E.1    Gelbart, T.2    Scott, C.R.3
  • 37
    • 23344450917 scopus 로고    scopus 로고
    • Recent clinical progress in Gaucher disease
    • 16012266 10.1097/01.mop.0000172702.33128.19
    • Grabowski GA (2005) Recent clinical progress in Gaucher disease. Curr Opin Pediatr 17:519-524
    • (2005) Curr Opin Pediatr , vol.17 , pp. 519-524
    • Grabowski, G.A.1
  • 38
    • 84859423454 scopus 로고    scopus 로고
    • Hyposmia and cognitive impairment in Gaucher disease patients and carriers
    • 22344629 10.1002/mds.24945
    • McNeill A, Duran R, Proukakis C et al (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 27:526-532
    • (2012) Mov Disord , vol.27 , pp. 526-532
    • McNeill, A.1    Duran, R.2    Proukakis, C.3
  • 39
    • 67651161861 scopus 로고    scopus 로고
    • Hyperechogenicity of the substantia nigra in healthy controls is related to MRI changes and to neuronal loss as determined by F-Dopa PET
    • 19497378 10.1016/j.neuroimage.2009.05.072 1:STN:280: DC%2BD1MritlSrtg%3D%3D
    • Behnke S, Schroeder U, Dillmann U et al (2009) Hyperechogenicity of the substantia nigra in healthy controls is related to MRI changes and to neuronal loss as determined by F-Dopa PET. Neuroimage 47:1237-1243
    • (2009) Neuroimage , vol.47 , pp. 1237-1243
    • Behnke, S.1    Schroeder, U.2    Dillmann, U.3
  • 40
    • 70349705480 scopus 로고    scopus 로고
    • Transcranial brain sonography findings predict disease progression in multiple sclerosis
    • 19657105 10.1212/WNL.0b013e3181b8a9f8 1:STN:280:DC%2BD1Mnlt1Kqsw%3D%3D
    • Walter U, Wagner S, Horowski S, Benecke R, Zettl UK (2009) Transcranial brain sonography findings predict disease progression in multiple sclerosis. Neurology 73:1010-1017
    • (2009) Neurology , vol.73 , pp. 1010-1017
    • Walter, U.1    Wagner, S.2    Horowski, S.3    Benecke, R.4    Zettl, U.K.5
  • 41
    • 77954910427 scopus 로고    scopus 로고
    • Hyperferritinemia and iron overload in type 1 Gaucher disease
    • 20575041 10.1002/ajh.21721 1:CAS:528:DC%2BC3cXpvVegs7Y%3D
    • Stein P, Yu H, Jain D, Mistry PK (2010) Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol 85:472-476
    • (2010) Am J Hematol , vol.85 , pp. 472-476
    • Stein, P.1    Yu, H.2    Jain, D.3    Mistry, P.K.4
  • 42
    • 84861336517 scopus 로고    scopus 로고
    • Ferritinemia during type 1 Gaucher disease: Mechanisms and progression under treatment
    • 22560483 10.1016/j.bcmd.2012.04.002 1:CAS:528:DC%2BC38Xms12ltLk%3D
    • Mekinian A, Stirnemann J, Belmatoug N et al (2012) Ferritinemia during type 1 Gaucher disease: mechanisms and progression under treatment. Blood Cells Mol Dis 49:53-57
    • (2012) Blood Cells Mol Dis , vol.49 , pp. 53-57
    • Mekinian, A.1    Stirnemann, J.2    Belmatoug, N.3
  • 43
    • 77950539234 scopus 로고    scopus 로고
    • Life-long increase of substantia nigra hyperechogenicity in transcranial sonography
    • 20152909 10.1016/j.neuroimage.2010.01.112
    • Hagenah J, König IR, Sperner J et al (2010) Life-long increase of substantia nigra hyperechogenicity in transcranial sonography. Neuroimage 51:28-32
    • (2010) Neuroimage , vol.51 , pp. 28-32
    • Hagenah, J.1    König, I.R.2    Sperner, J.3
  • 44
    • 77953229340 scopus 로고    scopus 로고
    • The risk of Parkinson's disease in type 1 Gaucher disease
    • 20177787 10.1007/s10545-010-9055-0
    • Bultron G, Kacena K, Pearson D et al (2010) The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis 33:167-173
    • (2010) J Inherit Metab Dis , vol.33 , pp. 167-173
    • Bultron, G.1    Kacena, K.2    Pearson, D.3
  • 45
    • 84877741518 scopus 로고    scopus 로고
    • Greater risk of Parkinsonism associated with non-N370S GBA1 mutations
    • 22968580 10.1007/s10545-012-9527-5 1:CAS:528:DC%2BC3sXnsFGisrk%3D
    • Barrett MJ, Giraldo P, Capablo JL et al (2013) Greater risk of Parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis 36:575-580
    • (2013) J Inherit Metab Dis , vol.36 , pp. 575-580
    • Barrett, M.J.1    Giraldo, P.2    Capablo, J.L.3
  • 46
    • 78149410222 scopus 로고    scopus 로고
    • Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders
    • 20838799 10.1007/s00401-010-0741-7 1:CAS:528:DC%2BC3cXhtlSjt77I
    • Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E (2010) Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol 120:641-649
    • (2010) Acta Neuropathol , vol.120 , pp. 641-649
    • Goker-Alpan, O.1    Stubblefield, B.K.2    Giasson, B.I.3    Sidransky, E.4
  • 47
    • 79956199921 scopus 로고    scopus 로고
    • Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing
    • 21472771 10.1002/ana.22400 1:CAS:528:DC%2BC3MXns1Sgs7Y%3D
    • Cullen V, Sardi SP, Ng J et al (2011) Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann Neurol 69:940-953
    • (2011) Ann Neurol , vol.69 , pp. 940-953
    • Cullen, V.1    Sardi, S.P.2    Ng, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.