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Volumn 18, Issue 4, 2003, Pages 403-407

Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula

Author keywords

Acanthocytosis; Autosomal recessive; Chorea acanthocytosis; Gene mutations; Prebetalipoprotein

Indexed keywords

CLONAZEPAM; FLUORODEOXYGLUCOSE F 18; GABAPENTIN; LIPID; RISPERIDONE; VERY LOW DENSITY LIPOPROTEIN;

EID: 0037732993     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10361     Document Type: Article
Times cited : (22)

References (24)
  • 1
    • 0014247784 scopus 로고
    • Acanthocytosis and neurological disorder without abetalipoproteinemia
    • Critchley EMR, Clark DB, Wiklen A. Acanthocytosis and neurological disorder without abetalipoproteinemia. Arch Neurol 1968; 18:134-140.
    • (1968) Arch. Neurol. , vol.18 , pp. 134-140
    • Critchley, E.M.R.1    Clark, D.B.2    Wiklen, A.3
  • 2
    • 0014343403 scopus 로고
    • Hereditary neurological disease with acanthocytosis: A new syndrome
    • Levine IM, Estes JW, Ioonez JM. Hereditary neurological disease with acanthocytosis: a new syndrome. Arch Neurol 1968;19:403-409.
    • (1968) Arch. Neurol. , vol.19 , pp. 403-409
    • Levine, I.M.1    Estes, J.W.2    Ioonez, J.M.3
  • 3
    • 0026073577 scopus 로고
    • Neuroacanthocytosis: A clinical, hematological and pathological study of 19 cases
    • Hardie RJ, Pullon HW, Harding AE, et al. Neuroacanthocytosis: a clinical, hematological and pathological study of 19 cases. Brain 1991;114:13-49.
    • (1991) Brain , vol.114 , pp. 13-49
    • Hardie, R.J.1    Pullon, H.W.2    Harding, A.E.3
  • 4
    • 0024384505 scopus 로고
    • Acanthocytosis and neurological impairments
    • [review]
    • Hardie RJ. Acanthocytosis and neurological impairments [review]. QJM 1989;264:291-306.
    • (1989) QJM , vol.264 , pp. 291-306
    • Hardie, R.J.1
  • 5
    • 0035084427 scopus 로고    scopus 로고
    • Acanthocytosis and neurological disorder
    • Stevenson U, Hardie RJ. Acanthocytosis and neurological disorder. J Neurol 2001;248:87-94.
    • (2001) J. Neurol. , vol.248 , pp. 87-94
    • Stevenson, U.1    Hardie, R.J.2
  • 7
    • 16944362696 scopus 로고    scopus 로고
    • Chorea-acanthocytosis: Genetic linkage to chromosome 9q21
    • Rubio JP, Danek A, Stone C, et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997;61:899-908.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 899-908
    • Rubio, J.P.1    Danek, A.2    Stone, C.3
  • 8
    • 0034972973 scopus 로고    scopus 로고
    • A conserved sorting-associated protein is mutant in chorea-acanthocytosis
    • Rampoldi L, Dobson-Stone C, Rubio JP, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001;28:119-120.
    • (2001) Nat. Genet. , vol.28 , pp. 119-120
    • Rampoldi, L.1    Dobson-Stone, C.2    Rubio, J.P.3
  • 9
    • 0034967701 scopus 로고    scopus 로고
    • The gene encoding a newly discovered protein chorein is mutated in chorea-acanthocytosis
    • Ueno S, Maruki Y, Nakamura M, et al. The gene encoding a newly discovered protein chorein is mutated in chorea-acanthocytosis. Nat Genet 2001;28:121-122.
    • (2001) Nat. Genet. , vol.28 , pp. 121-122
    • Ueno, S.1    Maruki, Y.2    Nakamura, M.3
  • 10
    • 84968444029 scopus 로고
    • Un nouveau cas d'acanthocytosis
    • Drurez G. Un nouveau cas d'acanthocytosis. Rev Hemat 1959;14: 3-11.
    • (1959) Rev. Hemat. , vol.14 , pp. 3-11
    • Drurez, G.1
  • 12
    • 18744385813 scopus 로고    scopus 로고
    • Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
    • Dobson-Stone C, Danek A, Rampoldi L, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 2002;10:773-781.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 773-781
    • Dobson-Stone, C.1    Danek, A.2    Rampoldi, L.3
  • 13
    • 0000520709 scopus 로고
    • Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
    • Orfner PJ, Underhill PA. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am J Hum Genet 1995;57(Suppl):A266.
    • (1995) Am. J. Hum. Genet. , vol.57 , Issue.SUPPL.
    • Orfner, P.J.1    Underhill, P.A.2
  • 14
    • 0015464019 scopus 로고
    • Acanthocytosis and neurological disease
    • Aminoff MJ. Acanthocytosis and neurological disease. Brain 1972;95:749-760.
    • (1972) Brain , vol.95 , pp. 749-760
    • Aminoff, M.J.1
  • 15
    • 0023491067 scopus 로고
    • Chorea-acanthocytosis: A report of three new families and implications for genetic counseling
    • Vance JM, Pericak-Vance MA, Bowman M, et al. Chorea-acanthocytosis: a report of three new families and implications for genetic counseling. Am J Med Genet 1987;28:403-410.
    • (1987) Am. J. Med. Genet. , vol.28 , pp. 403-410
    • Vance, J.M.1    Pericak-Vance, M.A.2    Bowman, M.3
  • 16
    • 0021837782 scopus 로고
    • Erythrocyte membrane abnormalities in patients with amyotrophic chorea and acanthocytosis
    • Oshimu M, Osawa Y, Asahu K, Saito T. Erythrocyte membrane abnormalities in patients with amyotrophic chorea and acanthocytosis. J Neurol Sci 1985;68:147-160.
    • (1985) J. Neurol. Sci. , vol.68 , pp. 147-160
    • Oshimu, M.1    Osawa, Y.2    Asahu, K.3    Saito, T.4
  • 17
    • 0024421770 scopus 로고
    • Regional brain glucose metabolism in neuroacanthocytosis
    • Dubinsky R, Hallet M, Casey R, Chiro G. Regional brain glucose metabolism in neuroacanthocytosis. Neurology 1989;39:1253-1255.
    • (1989) Neurology , vol.39 , pp. 1253-1255
    • Dubinsky, R.1    Hallet, M.2    Casey, R.3    Chiro, G.4
  • 18
    • 0025734433 scopus 로고
    • Presynaptic and post synaptic striatal dopaminergic function in neuroacanthocytosis; a positron tomographic study
    • Brook DJ, Ibanez V, Playfford ED, et al. Presynaptic and post synaptic striatal dopaminergic function in neuroacanthocytosis; a positron tomographic study. Ann Neurol 1991;30:166-171.
    • (1991) Ann. Neurol. , vol.30 , pp. 166-171
    • Brook, D.J.1    Ibanez, V.2    Playfford, E.D.3
  • 19
    • 0021987477 scopus 로고
    • Familial tic disorder, parkinsonism, motor neuron disease and acanthocytosis: A new syndrome
    • Spitz MC, Jankovic J, Killian TM. Familial tic disorder, parkinsonism, motor neuron disease and acanthocytosis: a new syndrome. Neurology 1985;33:366-370.
    • (1985) Neurology , vol.33 , pp. 366-370
    • Spitz, M.C.1    Jankovic, J.2    Killian, T.M.3
  • 21
  • 22
    • 0017842485 scopus 로고
    • Familial regeneration of the basal ganglia with acanthocytosis: A clinical, pathological and neurochemical study
    • Bird TD, Cederbann S, Valping W, Stahl WR. Familial regeneration of the basal ganglia with acanthocytosis: a clinical, pathological and neurochemical study. Ann Neurol 1978;3:253-258.
    • (1978) Ann. Neurol. , vol.3 , pp. 253-258
    • Bird, T.D.1    Cederbann, S.2    Valping, W.3    Stahl, W.R.4
  • 23
    • 0026541572 scopus 로고
    • Hypoprebetalipo-proteinemia acanthocytosis retinitis pigmentosa and pallidal degeneration (HARP syndrome)
    • Higgins JY, Patterson ME, Papadopoulous NM, et al. Hypoprebetalipo-proteinemia acanthocytosis retinitis pigmentosa and pallidal degeneration (HARP syndrome). Neurology 1992;42:194-198.
    • (1992) Neurology , vol.42 , pp. 194-198
    • Higgins, J.Y.1    Patterson, M.E.2    Papadopoulous, N.M.3
  • 24
    • 0029074422 scopus 로고
    • Acanthocytosis, retinitis pigmentosa and pallidal degeneration. A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)
    • Ornel RW, Ammarlia PJ, Heald A, et al. Acanthocytosis, retinitis pigmentosa and pallidal degeneration. A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 1995;45:487-492.
    • (1995) Neurology , vol.45 , pp. 487-492
    • Ornel, R.W.1    Ammarlia, P.J.2    Heald, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.