메뉴 건너뛰기




Volumn 11, Issue 1, 2012, Pages 289-299

Spinocerebellar ataxia: A rational approach to aetiological diagnosis

Author keywords

Autosomal dominant ataxia; Autosomal recessive ataxia; Spinocerebellar ataxia; Sporadic ataxia

Indexed keywords

ALPHA TOCOPHEROL; CYANOCOBALAMIN; GLIADIN ANTIBODY; GLUTAMATE DECARBOXYLASE ANTIBODY; IMMUNOGLOBULIN A; KETONE BODY; LACTIC ACID; PYRUVIC ACID; THIAMINE; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY;

EID: 84859006164     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-011-0310-1     Document Type: Article
Times cited : (17)

References (39)
  • 3
    • 33847325712 scopus 로고    scopus 로고
    • Approche diagnostique des maladies mitochondriales à présentation neurologique
    • Aure K, Lombes A. Approche diagnostique des maladies mitochondriales à présentation neurologique. Rev Neurol (Paris). 2007;163(2):254-63 (Review). (Pubitemid 46328267)
    • (2007) Revue Neurologique , vol.163 , Issue.2 , pp. 254-263
    • Aure, K.1    Lombes, A.2
  • 4
    • 16244391425 scopus 로고    scopus 로고
    • Neurologic presentation of celiac disease
    • DOI 10.1053/j.gastro.2005.02.018
    • Bushara KO. Neurologic presentation of celiac disease. Gastroenterology. 2005;128(4 Suppl 1):S92-7 (Review). (Pubitemid 40460828)
    • (2005) Gastroenterology , vol.128 , Issue.4 SUPPL. 1
    • Bushara, K.O.1
  • 5
    • 0345830687 scopus 로고    scopus 로고
    • Antigliadin antibodies in Huntington's disease
    • Bushara KO, Nance M, Gomez CM. Antigliadin antibodies in Huntington's disease. Neurology. 2004;62(1):132-3. (Pubitemid 38082888)
    • (2004) Neurology , vol.62 , Issue.1 , pp. 132-133
    • Bushara, K.O.1    Nance, M.2    Gomez, C.M.3
  • 6
    • 36248994812 scopus 로고    scopus 로고
    • Déficit en cystathionine bêta-synthase et déficit en MTHFR chez l'adulte
    • DOI 10.1016/S0035-3787(07)92633-8
    • Cohen Aubart F, Sedel F, Papo T. Cystathionine betasynthase and MTHFR deficiencies in adults. Rev Neurol (Paris). 2007;163(10):904-10. (Pubitemid 350125302)
    • (2007) Revue Neurologique , vol.163 , Issue.10 , pp. 904-910
    • Cohen, A.F.1    Sedel, F.2    Papo, T.3
  • 10
    • 0035178023 scopus 로고    scopus 로고
    • The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
    • DOI 10.1007/s100720100017
    • Di Donato S, Gellera C, Mariotti C. The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Neurol Sci. 2001;22(3):219-28 (Review). (Pubitemid 33085679)
    • (2001) Neurological Sciences , vol.22 , Issue.3 , pp. 219-228
    • Di, D.S.1    Gellera, C.2    Mariotti, C.3
  • 11
    • 77955636420 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond
    • Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9(9):885-94.
    • (2010) Lancet Neurol , vol.9 , Issue.9 , pp. 885-894
    • Durr, A.1
  • 12
    • 33846882183 scopus 로고    scopus 로고
    • Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
    • DOI 10.1016/S1474-4422(07)70054-6, PII S1474442207700546
    • Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-57 (Review). (Pubitemid 46228080)
    • (2007) Lancet Neurology , vol.6 , Issue.3 , pp. 245-257
    • Fogel, B.L.1    Perlman, S.2
  • 13
  • 14
    • 34447604868 scopus 로고
    • Uber degenerative Atrophie der spinalen hinterstränge
    • Friedreich N. Uber degenerative Atrophie der spinalen hinterstränge. Virchows Arch Pathol Anat. 1863;26:391-419.
    • (1863) Virchows Arch Pathol Anat , vol.26 , pp. 391-419
    • Friedreich, N.1
  • 17
    • 0242523209 scopus 로고    scopus 로고
    • Dominantly Inherited Ataxias
    • DOI 10.1016/S1071-9091(03)00030-5
    • Gomez CM, Subramony SH. Dominantly inherited ataxias. Semin Pediatr Neurol. 2003;10(3):210-22 (Review). (Pubitemid 37414097)
    • (2003) Seminars in Pediatric Neurology , vol.10 , Issue.3 , pp. 210-222
    • Gomez, C.M.1    Subramony, S.H.2
  • 20
    • 41549153666 scopus 로고    scopus 로고
    • Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
    • Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008;82(4):992-1002.
    • (2008) Am J Hum Genet , vol.82 , Issue.4 , pp. 992-1002
    • Hanein, S.1    Martin, E.2    Boukhris, A.3    Byrne, P.4    Goizet, C.5    Hamri, A.6
  • 21
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias
    • Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. Brain. 1982;105:1-28.
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 22
    • 0000834705 scopus 로고
    • An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellaar ataxia
    • Holmes G. An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellaar ataxia. Brain. 1907;30:547-67.
    • (1907) Brain , vol.30 , pp. 547-567
    • Holmes, G.1
  • 24
    • 18944384702 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias in Spain: Molecular and clinical correlations, prevalence estimation and survival analysis
    • DOI 10.1111/j.1600-0404.2005.00400.x
    • Infante J, Combarros O, Volpini V, Corral J, Llorca J, Berciano J. Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis. Acta Neurol Scand. 2005;111(6):391-9. (Pubitemid 40705310)
    • (2005) Acta Neurologica Scandinavica , vol.111 , Issue.6 , pp. 391-399
    • Infante, J.1    Combarros, O.2    Volpini, V.3    Corral, J.4    Llorca, J.5    Berciano, J.6
  • 25
    • 19944367927 scopus 로고    scopus 로고
    • Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6
    • Jiang H, Tang BS, Xu B, Zhao GH, Shen L, Tang JG, et al. Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Chin Med J (Engl). 2005;118(10):837-43. (Pubitemid 40753894)
    • (2005) Chinese Medical Journal , vol.118 , Issue.10 , pp. 837-843
    • Jiang, H.1    Tang, B.-S.2    Xu, B.3    Zhao, G.-H.4    Shen, L.5    Tang, J.-G.6    Li, Q.-H.7    Xia, K.8
  • 26
    • 65849230539 scopus 로고    scopus 로고
    • The clinical diagnosis of autosomal dominant spinocerebellar ataxias
    • Klockgether T. The clinical diagnosis of autosomal dominant spinocerebellar ataxias. Cerebellum. 2008;7(2):101-5.
    • (2008) Cerebellum , vol.7 , Issue.2 , pp. 101-105
    • Klockgether, T.1
  • 29
    • 0038796980 scopus 로고    scopus 로고
    • Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients
    • DOI 10.1001/archneur.60.6.858
    • Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, et al. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. Arch Neurol. 2003;60(6):858-63. (Pubitemid 36705974)
    • (2003) Archives of Neurology , vol.60 , Issue.6 , pp. 858-863
    • Lee, W.Y.1    Jin, D.K.2    Oh, M.R.3    Lee, J.E.4    Song, S.M.5    Lee, E.A.6    Kim, G.-M.7    Chung, J.S.8    Lee, K.H.9
  • 31
    • 18844445901 scopus 로고    scopus 로고
    • Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: Genetic and clinical peculiarities in Moroccan patients
    • DOI 10.1016/j.ejmg.2005.01.014, PII S1769721205000200
    • Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T, et al. Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet. 2005;48(1):21-8. (Pubitemid 40692224)
    • (2005) European Journal of Medical Genetics , vol.48 , Issue.1 , pp. 21-28
    • Marzouki, N.1    Benomar, A.2    Yahyaoui, M.3    Birouk, N.4    Elouazzani, M.5    Chkili, T.6    Benlemlih, M.7
  • 33
    • 4644307102 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome -3 case reports and review of clinical feature
    • Park SB, Ma KT, Kook KH, Lee SY. Kearns-Sayre syndrome - 3 case reports and review of clinical feature. Yonsei Med J. 2004;45(4):727-35. (Pubitemid 39263999)
    • (2004) Yonsei Medical Journal , vol.45 , Issue.4 , pp. 727-735
    • Park, S.B.1    Ma, K.T.2    Kook, K.H.3    Lee, S.Y.4
  • 34
    • 0000223839 scopus 로고
    • Sur l'hérédo-ataxie cérébelleuse
    • Paris
    • Pierre Marie. Sur l'hérédo-ataxie céré belleuse. Semaine Médicale, Paris, 1893;13:444.
    • (1893) Semaine Médicale , vol.13 , pp. 444
    • Marie, P.1
  • 35
  • 36
    • 36249022787 scopus 로고    scopus 로고
    • Treatable hereditary neurometabolic diseases
    • Sedel F, Lyon-Caen O, Saudubray JM. Treatable hereditary neurometabolic diseases. Rev Neurol (Paris). 2007;163(10):884-96.
    • (2007) Rev Neurol (Paris) , vol.163 , Issue.10 , pp. 884-896
    • Sedel, F.1    Lyon-Caen, O.2    Saudubray, J.M.3
  • 39
    • 0032145061 scopus 로고    scopus 로고
    • Electrophysiology and nerve biopsy: Comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency
    • DOI 10.1016/S0960-8966(98)00051-0, PII S0960896698000510
    • Zouari M, Feki M, Ben Hamida C, Larnaout A, Turki I, Belal S, et al. Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromuscul Disord. 1998;8(6):416-25. (Pubitemid 28388943)
    • (1998) Neuromuscular Disorders , vol.8 , Issue.6 , pp. 416-425
    • Zouari, M.1    Feki, M.2    Ben, H.C.3    Larnaout, A.4    Turki, I.5    Belal, S.6    Mebazaa, A.7    Ben, H.M.8    Hentati, F.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.