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Volumn , Issue , 2008, Pages 205-215

Cerebral involvement in McLeod syndrome: The first autopsy revisited

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EID: 80052963597     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-71693-8_17     Document Type: Chapter
Times cited : (5)

References (49)
  • 1
    • 0001216951 scopus 로고
    • A new phenotype (McLeod) in the Kell bloodgroup system
    • Allen FH, Krabbe S M R, Corcoran PA (1961) A new phenotype (McLeod) in the Kell bloodgroup system. Vox Sang 6:555-560
    • (1961) Vox Sang , vol.6 , pp. 555-560
    • Allen, F.H.1    Krabbe, S.M.R.2    Corcoran, P.A.3
  • 2
    • 0024469536 scopus 로고
    • Chorea-acanthocytosis: Report of a family and neuropathological study of two cases
    • Alonso ME, Teixeira F, Jimenez G et al. (1989) Chorea-acanthocytosis: report of a family and neuropathological study of two cases. Can J Neurol Sci 16:426-431
    • (1989) Can J Neurol Sci , vol.16 , pp. 426-431
    • Alonso, M.E.1    Teixeira, F.2    Jimenez, G.3
  • 3
    • 33845191216 scopus 로고    scopus 로고
    • The neuropathology of chorea-acanthocytosis: From stereology to an immunohistochemical detection of chorein
    • Arzberger T, Heinsen H, Buresch N et al. (2006) The neuropathology of chorea-acanthocytosis: from stereology to an immunohistochemical detection of chorein. Mov Disord 20:1679
    • (2006) Mov Disord , vol.20 , pp. 1679
    • Arzberger, T.1    Heinsen, H.2    Buresch, N.3
  • 4
    • 84920160139 scopus 로고    scopus 로고
    • Neuropathology of chorea-acanthocytosis
    • Bader B (2007) Neuropathology of chorea-acanthocytosis. Mov Disord 22:VI
    • (2007) Mov Disord , vol.22 , pp. VI
    • Bader, B.1
  • 5
    • 84920132036 scopus 로고    scopus 로고
    • Detection of chorein in postmortem brain tissue of chorea-acanthocytosis patients and nonaffected controls by Western blot
    • Bader B, Arzberger T, Dobson-Stone C et al. (2007) Detection of chorein in postmortem brain tissue of chorea-acanthocytosis patients and nonaffected controls by Western blot. Mov Disord 22:VI
    • (2007) Mov Disord , vol.22 , pp. VI
    • Bader, B.1    Arzberger, T.2    Dobson-Stone, C.3
  • 6
    • 0023910762 scopus 로고
    • Localization of the McLeod locus (XK) within Xp21 by deletion analysis
    • Bertelson CJ, Pogo AO, Chaudhuri A et al. (1988) Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet 42:703-711
    • (1988) Am J Hum Genet , vol.42 , pp. 703-711
    • Bertelson, C.J.1    Pogo, A.O.2    Chaudhuri, A.3
  • 7
    • 0017842485 scopus 로고
    • Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological, and neurochemical study
    • Bird TD, Cederbaum S, Valpey RW et al. (1978) Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. Ann Neurol 3:253-258
    • (1978) Ann Neurol , vol.3 , pp. 253-258
    • Bird, T.D.1    Cederbaum, S.2    Valpey, R.W.3
  • 9
    • 0001070588 scopus 로고
    • Neuropathology of McLeod phenotype is like choreaacanthocytosis (CA)
    • Brin MF, Hays A, Symmans WA et al. (1993) Neuropathology of McLeod phenotype is like choreaacanthocytosis (CA). Can J Neurol Sci 20(Suppl):S234
    • (1993) Can J Neurol Sci , vol.20 , pp. S234
    • Brin, M.F.1    Hays, A.2    Symmans, W.A.3
  • 10
    • 0037168797 scopus 로고    scopus 로고
    • Minimal tissue damage after stimulation of the motor thalamus in a case of chorea-acanthocytosis
    • Burbaud P, Vital A, Rougier A et al. (2002) Minimal tissue damage after stimulation of the motor thalamus in a case of chorea-acanthocytosis. Neurology 59:1982-1984
    • (2002) Neurology , vol.59 , pp. 1982-1984
    • Burbaud, P.1    Vital, A.2    Rougier, A.3
  • 11
    • 34147120046 scopus 로고    scopus 로고
    • The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system
    • Claperon A, Hattab C, Armand V et al. (2007) The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. Brain Res 1147:12-24
    • (2007) Brain Res , vol.1147 , pp. 12-24
    • Claperon, A.1    Hattab, C.2    Armand, V.3
  • 12
    • 34547822252 scopus 로고    scopus 로고
    • Neuroacanthocytosis syndromes: What links red blood cells and neurons?
    • Danek A ed, Springer, Dordrecht, The Netherlands
    • Danek A (2004) Neuroacanthocytosis syndromes: what links red blood cells and neurons? In: Danek A (ed) Neuroacanthocytosis syndromes. Springer, Dordrecht, The Netherlands, pp 1-14
    • (2004) Neuroacanthocytosis Syndromes , pp. 1-14
    • Danek, A.1
  • 13
    • 0035202829 scopus 로고    scopus 로고
    • McLeod neuroacanthocytosis: Genotype and phenotype
    • Danek A, Rubio JP, Rampoldi L et al. (2001) McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50:755-764
    • (2001) Ann Neurol , vol.50 , pp. 755-764
    • Danek, A.1    Rubio, J.P.2    Rampoldi, L.3
  • 14
    • 0027958727 scopus 로고
    • Cerebral involvement in McLeod syndrome
    • Danek A, Uttner I, Vogl T et al. (1994) Cerebral involvement in McLeod syndrome. Neurology 44:117-120
    • (1994) Neurology , vol.44 , pp. 117-120
    • Danek, A.1    Uttner, I.2    Vogl, T.3
  • 15
    • 0024194824 scopus 로고
    • Neurochemical findings in neuroacanthocytosis
    • De Yébenes JG, Brin MF, Mena MA et al. (1988) Neurochemical findings in neuroacanthocytosis. Mov Disord 3:300-312
    • (1988) Mov Disord , vol.3 , pp. 300-312
    • De Yébenes, J.G.1    Brin, M.F.2    Mena, M.A.3
  • 16
    • 0023757655 scopus 로고
    • Biochemical findings in symptomatic dystonias
    • De Yébenes JG, Vazquez A, Martínez A et al. (1988) Biochemical findings in symptomatic dystonias. Adv Neurol 50:167-175
    • (1988) Adv Neurol , vol.50 , pp. 167-175
    • De Yébenes, J.G.1    Vazquez, A.2    Martínez, A.3
  • 17
    • 0026095854 scopus 로고
    • Diagnostic tests for choreoacanthocytosis
    • Feinberg TE, Cianci CD, Morrow JS et al. (1991) Diagnostic tests for choreoacanthocytosis. Neurology 41:1000-1006
    • (1991) Neurology , vol.41 , pp. 1000-1006
    • Feinberg, T.E.1    Cianci, C.D.2    Morrow, J.S.3
  • 18
    • 0027351455 scopus 로고
    • Amyotrophic choreo-acanthocytosis: A neuropathological and immunocytochemical study
    • Galatioto S, Serra S, Batolo D et al. (1993) Amyotrophic choreo-acanthocytosis: a neuropathological and immunocytochemical study. Ital J Neurol Sci 14:49-54
    • (1993) Ital J Neurol Sci , vol.14 , pp. 49-54
    • Galatioto, S.1    Serra, S.2    Batolo, D.3
  • 19
    • 0017913176 scopus 로고
    • Morphology and physiology of the McLeod erythrocyte
    • Galey WR, Evan AP, Van Nice PS et al. (1978) Morphology and physiology of the McLeod erythrocyte. Vox Sang 34:152-161
    • (1978) Vox Sang , vol.34 , pp. 152-161
    • Galey, W.R.1    Evan, A.P.2    Van Nice, P.S.3
  • 20
    • 84920190386 scopus 로고    scopus 로고
    • The neuropathology of McLeod syndrome: A case study
    • Geser F, Prokop S, Glatzel M et al. (2007) The neuropathology of McLeod syndrome: a case study. Mov Disord 22:VI
    • (2007) Mov Disord , vol.22 , pp. VI
    • Geser, F.1    Prokop, S.2    Glatzel, M.3
  • 21
    • 0015220902 scopus 로고
    • Kell phenotypes in chronic granulomatous disease: A potential transfusion hazard
    • Giblett ER, Klebanoff SJ, Pincus SH et al. (1971) Kell phenotypes in chronic granulomatous disease: a potential transfusion hazard. Lancet I:1235-1236
    • (1971) Lancet , vol.1 , pp. 1235-1236
    • Giblett, E.R.1    Klebanoff, S.J.2    Pincus, S.H.3
  • 22
    • 0026073577 scopus 로고
    • Neuroacanthocytosis: A clinical, haematological and pathological study of 19 cases
    • Hardie RJ, Pullon H W H, Harding AE et al. (1991) Neuroacanthocytosis: a clinical, haematological and pathological study of 19 cases. Brain 114:13-49
    • (1991) Brain , vol.114 , pp. 13-49
    • Hardie, R.J.1    Pullon, H.W.H.2    Harding, A.E.3
  • 23
    • 33750966722 scopus 로고    scopus 로고
    • Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: A voxel-based morphometry study
    • Henkel K, Danek A, Grafman J et al. (2006) Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study. Mov Disord 21:1728-1731
    • (2006) Mov Disord , vol.21 , pp. 1728-1731
    • Henkel, K.1    Danek, A.2    Grafman, J.3
  • 24
    • 0028263898 scopus 로고
    • Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
    • Ho M, Chelly J, Carter N et al. (1994) Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77:869-880
    • (1994) Cell , vol.77 , pp. 869-880
    • Ho, M.1    Chelly, J.2    Carter, N.3
  • 25
    • 0029928980 scopus 로고    scopus 로고
    • A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis
    • Ho MF, Chalmers RM, Davis MB et al. (1996) A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann Neurol 39:672-675
    • (1996) Ann Neurol , vol.39 , pp. 672-675
    • Ho, M.F.1    Chalmers, R.M.2    Davis, M.B.3
  • 26
    • 0026500296 scopus 로고
    • Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21
    • Ho MF, Monaco AP, Blonden L A J et al. (1992) Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. Am J Hum Genet 50:317-330
    • (1992) Am J Hum Genet , vol.50 , pp. 317-330
    • Ho, M.F.1    Monaco, A.P.2    Blonden, L.A.J.3
  • 27
    • 84920116613 scopus 로고    scopus 로고
    • An autopsied case of chorea-acanthocytosis with a single detected mutation of VPS13A
    • Ishida C, Makifuchi T, Saiki S et al. (2007) An autopsied case of chorea-acanthocytosis with a single detected mutation of VPS13A. Mov Disord 22:VI
    • (2007) Mov Disord , vol.22 , pp. VI
    • Ishida, C.1    Makifuchi, T.2    Saiki, S.3
  • 28
    • 0021592479 scopus 로고
    • Neuropathological study of chorea-acanthocytosis
    • Iwata M, Fuse S, Sakuta M et al. (1984) Neuropathological study of chorea-acanthocytosis. Jpn J Med 23:118-122
    • (1984) Jpn J Med , vol.23 , pp. 118-122
    • Iwata, M.1    Fuse, S.2    Sakuta, M.3
  • 29
    • 0033566651 scopus 로고    scopus 로고
    • Proteolytic processing of big endothelin-3 by the Kell blood group protein
    • Lee S, Lin M, Mele A et al. (1999) Proteolytic processing of big endothelin-3 by the Kell blood group protein. Blood 94:1440-1450
    • (1999) Blood , vol.94 , pp. 1440-1450
    • Lee, S.1    Lin, M.2    Mele, A.3
  • 30
    • 33947609378 scopus 로고    scopus 로고
    • Expression profiles of mouse Kell, XK, and XPLAC mRNA
    • Lee S, Sha Q, Wu X et al. (2007) Expression profiles of mouse Kell, XK, and XPLAC mRNA. J Histochem Cytochem 55:365-374
    • (2007) J Histochem Cytochem , vol.55 , pp. 365-374
    • Lee, S.1    Sha, Q.2    Wu, X.3
  • 31
    • 0027484398 scopus 로고
    • Choreo-acanthocytosis like phenotype without acanthocytes: Clinicopathological case report
    • Malandrini A, Fabrizi GM, Palmeri S et al. (1993) Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. Acta Neuropathol (Berl) 86:651-658
    • (1993) Acta Neuropathol (Berl) , vol.86 , pp. 651-658
    • Malandrini, A.1    Fabrizi, G.M.2    Palmeri, S.3
  • 32
    • 84920127928 scopus 로고
    • Evidence of a muscular defect in subjects with McLeod syndrome
    • Marsh NJ, Marsh WL, Johnson CL et al. (1980) Evidence of a muscular defect in subjects with McLeod syndrome. Transfusion 20:618-619
    • (1980) Transfusion , vol.20 , pp. 618-619
    • Marsh, N.J.1    Marsh, W.L.2    Johnson, C.L.3
  • 33
    • 0019466439 scopus 로고
    • Elevated serum creatine phosphokinase in subjects with McLeod syndrome
    • Marsh WL, Marsh NJ, Moore A et al. (1981) Elevated serum creatine phosphokinase in subjects with McLeod syndrome. Vox Sang 40:403-411
    • (1981) Vox Sang , vol.40 , pp. 403-411
    • Marsh, W.L.1    Marsh, N.J.2    Moore, A.3
  • 34
    • 0016631484 scopus 로고
    • Chronic granulomatous disease and the Kell blood groups
    • Marsh WL, Šyen R, Nichols ME et al. (1975) Chronic granulomatous disease and the Kell blood groups. Br J Haematol 29:247-262
    • (1975) Br J Haematol , vol.29 , pp. 247-262
    • Marsh, W.L.1    Šyen, R.2    Nichols, M.E.3
  • 35
    • 14844290460 scopus 로고    scopus 로고
    • Pathology of neuroacanthocytosis and of Huntington's disease
    • Danek A ed, Springer, Dordrecht
    • Martinez A, Mena MA, Jamrozik Z et al. (2004) Pathology of neuroacanthocytosis and of Huntington's disease. In: Danek A (ed) Neuroacanthocytosis syndromes. Springer, Dordrecht, pp 87-94
    • (2004) Neuroacanthocytosis Syndromes , pp. 87-94
    • Martinez, A.1    Mena, M.A.2    Jamrozik, Z.3
  • 36
    • 84920111003 scopus 로고    scopus 로고
    • A case of chorea-acanthocytosis: Clinico-pathological presentation
    • Ochiai J, Takeuchi Y, Mabuchi C et al. (2007) A case of chorea-acanthocytosis: clinico-pathological presentation. Mov Disord 22:VI
    • (2007) Mov Disord , vol.22 , pp. VI
    • Ochiai, J.1    Takeuchi, Y.2    Mabuchi, C.3
  • 37
    • 0030310564 scopus 로고    scopus 로고
    • Neuroacanthocytosis. Review of literature and case report
    • Rafalowska J, Drac H, Jamrozik S (1996) Neuroacanthocytosis. Review of literature and case report. Folia Neuropathol 34:178-183
    • (1996) Folia Neuropathol , vol.34 , pp. 178-183
    • Rafalowska, J.1    Drac, H.2    Jamrozik, S.3
  • 38
    • 0034972973 scopus 로고    scopus 로고
    • A conserved sorting-associated protein is mutant in chorea-acanthocytosis
    • Rampoldi L, Dobson-Stone C, Rubio JP et al. (2001) A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28:119-120
    • (2001) Nat Genet , vol.28 , pp. 119-120
    • Rampoldi, L.1    Dobson-Stone, C.2    Rubio, J.P.3
  • 39
    • 0028023515 scopus 로고
    • Nigral degeneration in neuroacanthocytosis
    • Rinne JO, Daniel SE, Scaravilli F et al. (1994) Nigral degeneration in neuroacanthocytosis. Neurology 44:1629-1632
    • (1994) Neurology , vol.44 , pp. 1629-1632
    • Rinne, J.O.1    Daniel, S.E.2    Scaravilli, F.3
  • 40
    • 0028356802 scopus 로고
    • The neuropathological features of neuroacanthocytosis
    • Rinne JO, Daniel SE, Scaravilli F et al. (1994) The neuropathological features of neuroacanthocytosis. Mov Disord 9:297-304
    • (1994) Mov Disord , vol.9 , pp. 297-304
    • Rinne, J.O.1    Daniel, S.E.2    Scaravilli, F.3
  • 41
    • 0021348395 scopus 로고
    • An autopsy case of chorea-acanthocytosis. Special reference to the histopathological and biochemical findings of basal ganglia
    • Sato Y, Ohnishi A, Tateishi J et al. (1984) An autopsy case of chorea-acanthocytosis. Special reference to the histopathological and biochemical findings of basal ganglia. Brain Nerve (Tokyo) 36:105-111
    • (1984) Brain Nerve (Tokyo) , vol.36 , pp. 105-111
    • Sato, Y.1    Ohnishi, A.2    Tateishi, J.3
  • 42
    • 0000185540 scopus 로고
    • 'New' clinical features of McLeod syndrome
    • Schwartz SA, Marsh WL, Symmans A et al. (1982) 'New' clinical features of McLeod syndrome. Transfusion 22:404
    • (1982) Transfusion , vol.22 , pp. 404
    • Schwartz, S.A.1    Marsh, W.L.2    Symmans, A.3
  • 43
    • 0023018964 scopus 로고
    • Peripheral nerve involvement in familial chorea-acanthocytosis
    • Sobue G, Mukai E, Fujii K et al. (1986) Peripheral nerve involvement in familial chorea-acanthocytosis. J Neurol Sci 76:347-356
    • (1986) J Neurol Sci , vol.76 , pp. 347-356
    • Sobue, G.1    Mukai, E.2    Fujii, K.3
  • 44
    • 0023142828 scopus 로고
    • Chorea-amyotrophy with chronic hemolytic anemia: A variant of chorea-amyotrophy with acanthocytosis
    • Spencer SE, Walker FO, Moore SA (1987) Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis. Neurology 37:645-649
    • (1987) Neurology , vol.37 , pp. 645-649
    • Spencer, S.E.1    Walker, F.O.2    Moore, S.A.3
  • 45
    • 0018774653 scopus 로고
    • Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system
    • Symmans WA, Shepherd CS, Marsh WL et al. (1979) Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 42:575-583
    • (1979) Br J Haematol , vol.42 , pp. 575-583
    • Symmans, W.A.1    Shepherd, C.S.2    Marsh, W.L.3
  • 46
    • 0034967701 scopus 로고    scopus 로고
    • The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
    • Ueno S-I, Maruki Y, Nakamura M et al. (2001) The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28:121-122
    • (2001) Nat Genet , vol.28 , pp. 121-122
    • Ueno, S.-I.1    Maruki, Y.2    Nakamura, M.3
  • 47
    • 84919772009 scopus 로고    scopus 로고
    • Endothelins as basal ganglia transmitters
    • Danek A ed, Springer, Dordrecht, The Netherlands
    • Van Den Buuse M (2004) Endothelins as basal ganglia transmitters. In: Danek A (ed) Neuroacanthocytosis syndromes. Springer, Dordrecht, The Netherlands, pp 205-212
    • (2004) Neuroacanthocytosis Syndromes , pp. 205-212
    • Van Den Buuse, M.1
  • 48
    • 0036207370 scopus 로고    scopus 로고
    • Chorea-acanthocytosis: Neuropathology of brain and peripheral nerve
    • Vital A, Bouillot S, Burbaud P et al. (2002) Chorea-acanthocytosis: neuropathology of brain and peripheral nerve. Clin Neuropathol 21:77-81
    • (2002) Clin Neuropathol , vol.21 , pp. 77-81
    • Vital, A.1    Bouillot, S.2    Burbaud, P.3
  • 49
    • 0017714137 scopus 로고
    • Haematological changes associated with the McLeod phenotype of the Kell blood group system
    • Wimer BM, Marsh WL, Taswell HF et al. (1977) Haematological changes associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 36:219-224
    • (1977) Br J Haematol , vol.36 , pp. 219-224
    • Wimer, B.M.1    Marsh, W.L.2    Taswell, H.F.3


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