메뉴 건너뛰기




Volumn 161, Issue 1, 1998, Pages 57-65

Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features

Author keywords

FRDA; Hereditary ataxias; IOSCA; Neuropathology

Indexed keywords

ADULT; ARTICLE; BRAIN CORTEX; BRAIN STEM; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; DORSAL ROOT; FEMALE; FRIEDREICH ATAXIA; GENE MAPPING; HEREDITARY ATAXIA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE; NEUROPATHOLOGY; PERIPHERAL NERVE; PRIORITY JOURNAL; SPINAL CORD DORSAL HORN; SPINOCEREBELLAR TRACT;

EID: 0032569825     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00249-4     Document Type: Article
Times cited : (51)

References (51)
  • 1
    • 0030846021 scopus 로고    scopus 로고
    • Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
    • Babcock M., de Silva D., Oaks R.et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 276:1997;1709-1712.
    • (1997) Science , vol.276 , pp. 1709-1712
    • Babcock, M.1    De Silva, D.2    Oaks, R.3
  • 2
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V., Montermini L., Molto M.D.et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 271:1996;1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 4
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G., Abbas N., Stevanin G.et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 17:1997;65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 5
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph Disease: Clinical, molecular, and neuropathological features
    • Durr A., Stevanin G., Cancel G.et al. Spinocerebellar ataxia 3 and Machado-Joseph Disease: clinical, molecular, and neuropathological features. Ann Neurol. 39:1996;490-499.
    • (1996) Ann Neurol , vol.39 , pp. 490-499
    • Durr, A.1    Stevanin, G.2    Cancel, G.3
  • 6
    • 0031567601 scopus 로고    scopus 로고
    • Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
    • Foury F., Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett. 411:1997;373-377.
    • (1997) FEBS Lett , vol.411 , pp. 373-377
    • Foury, F.1    Cazzalini, O.2
  • 7
    • 34447604868 scopus 로고
    • Uber degenerative Atrophie der spinalen Hinterstränge
    • Friedreich N. Uber degenerative Atrophie der spinalen Hinterstränge. Virchows Arch A Pathol Anat Histopathol. 26:1863;391-419.
    • (1863) Virchows Arch A Pathol Anat Histopathol , vol.26 , pp. 391-419
    • Friedreich, N.1
  • 8
    • 34447609375 scopus 로고
    • Uber degenerative Atrophie der Spinalen Hinterstränge
    • Friedreich N. Uber degenerative Atrophie der Spinalen Hinterstränge. Virchows Arch A Pathol Anat Histopathol. 26:1863;433-459.
    • (1863) Virchows Arch A Pathol Anat Histopathol , vol.26 , pp. 433-459
    • Friedreich, N.1
  • 9
    • 0010410867 scopus 로고
    • Uber degenerative Atrophie der spinalen Hinterstränge
    • Friedreich N. Uber degenerative Atrophie der spinalen Hinterstränge. Virchows Arch A Pathol Anat Histopathol. 27:1863;1-26.
    • (1863) Virchows Arch A Pathol Anat Histopathol , vol.27 , pp. 1-26
    • Friedreich, N.1
  • 10
    • 0001443567 scopus 로고
    • Uber ataxie mit besonderer berucksichtigung der hereditären formen
    • Friedreich N. Uber ataxie mit besonderer berucksichtigung der hereditären formen. Virchows Arch A Pathol Anat Histopathol. 68:1876;145-245.
    • (1876) Virchows Arch A Pathol Anat Histopathol , vol.68 , pp. 145-245
    • Friedreich, N.1
  • 11
    • 0010375888 scopus 로고
    • Uber ataxie mit besonderer berucksichtigung der hereditären formen
    • Friedreich N. Uber ataxie mit besonderer berucksichtigung der hereditären formen. Virchows Arch A Pathol Anat Histopathol. 86:1877;140-152.
    • (1877) Virchows Arch A Pathol Anat Histopathol , vol.86 , pp. 140-152
    • Friedreich, N.1
  • 12
    • 0030040304 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions
    • Gilman S., Sima A.A.F., Junck L.et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol. 39:1996;241-255.
    • (1996) Ann Neurol , vol.39 , pp. 241-255
    • Gilman, S.1    Sima, A.A.F.2    Junck, L.3
  • 13
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • Gispert S., Twells R., Orozco G.et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet. 4:1993;295-299.
    • (1993) Nat Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3
  • 14
    • 0025875226 scopus 로고
    • Pax-3, a novel murine DNA binding protein expressed during early neurogenesis
    • Goulding M.D., Chalepakis G., Deutsch U., Erselius J.R., Gruss P. Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J. 10:1991;1135-1147.
    • (1991) EMBO J , vol.10 , pp. 1135-1147
    • Goulding, M.D.1    Chalepakis, G.2    Deutsch, U.3    Erselius, J.R.4    Gruss, P.5
  • 16
    • 0019782799 scopus 로고
    • Friedreich's ataxia. A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding A.E. Friedreich's ataxia. A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 104:1981;589-620.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 17
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • In: Harding AE, Deufels T, editors. New York: Raven Press
    • Harding AE. Clinical features and classification of inherited ataxias. In: Harding AE, Deufels T, editors. Inherited ataxias. New York: Raven Press, 1993:1-14.
    • (1993) Inherited Ataxias , pp. 1-14
    • Harding, A.E.1
  • 18
    • 0029991809 scopus 로고    scopus 로고
    • Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease
    • Higgins J.J., Nee L.E., Vasconcelos O., Ide S.E., Goldfarb L.G., Polymeropoulos M.H. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 46:1996;208-213.
    • (1996) Neurology , vol.46 , pp. 208-213
    • Higgins, J.J.1    Nee, L.E.2    Vasconcelos, O.3    Ide, S.E.4    Goldfarb, L.G.5    Polymeropoulos, M.H.6
  • 19
    • 0010375209 scopus 로고    scopus 로고
    • Labyrinthine pathology in a deaf patient with infantile onset of spinocerebellar ataxia (IOSCA)
    • In: Iurato S, Veldman JE, editors. Amsterdam, New York: Kugler Publications
    • Johnsson L-G, Felix H, Paetau A, Lönnqvist T. Labyrinthine pathology in a deaf patient with infantile onset of spinocerebellar ataxia (IOSCA). In: Iurato S, Veldman JE, editors. Progress in human auditory and vestibular histopathology. Amsterdam, New York: Kugler Publications, 1997:103-8.
    • (1997) Progress in Human Auditory and Vestibular Histopathology , pp. 103-108
    • Johnsson, L.-G.1    Felix, H.2    Paetau, A.3    Lönnqvist, T.4
  • 20
    • 0029690663 scopus 로고    scopus 로고
    • Machado-Joseph disease and SCA3: The genotype meets the phenotype
    • Junck L., Fink J.K. Machado-Joseph disease and SCA3: The genotype meets the phenotype. Neurology. 46:1996;4-8.
    • (1996) Neurology , vol.46 , pp. 4-8
    • Junck, L.1    Fink, J.K.2
  • 21
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y., Okamoto T., Taniwaki M.et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 8:1994;221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 22
    • 0014787658 scopus 로고
    • The olivopontocerebellar atrophies: A review
    • Konigsmark B.W., Weiner L.P. The olivopontocerebellar atrophies: a review. Medicine. 49:1970;227-241.
    • (1970) Medicine , vol.49 , pp. 227-241
    • Konigsmark, B.W.1    Weiner, L.P.2
  • 23
    • 0030795968 scopus 로고    scopus 로고
    • The CAG/polyglutamine tract diseases: Gene products and molecular pathogenesis
    • Koshy B.T., Zoghbi H.Y. The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol. 7:1997;927-942.
    • (1997) Brain Pathol , vol.7 , pp. 927-942
    • Koshy, B.T.1    Zoghbi, H.Y.2
  • 24
    • 0028089305 scopus 로고
    • Infantile onset spinocerebellar ataxia with sensory neuropathy - A new inherited disease
    • Koskinen T., Santavuori P., Sainio K., Lappi M., Kallio A.-K., Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy - a new inherited disease. J Neurol Sci. 121:1994;50-56.
    • (1994) J Neurol Sci , vol.121 , pp. 50-56
    • Koskinen, T.1    Santavuori, P.2    Sainio, K.3    Lappi, M.4    Kallio, A.-K.5    Pihko, H.6
  • 25
    • 0028218559 scopus 로고
    • Sensory neuropathy in infantile onset spinocerebellar ataxia
    • Koskinen T., Sainio K., Rapola J., Pihko H., Paetau A. Sensory neuropathy in infantile onset spinocerebellar ataxia. Muscle Nerve. 17:1994;509-515.
    • (1994) Muscle Nerve , vol.17 , pp. 509-515
    • Koskinen, T.1    Sainio, K.2    Rapola, J.3    Pihko, H.4    Paetau, A.5
  • 26
    • 0029161718 scopus 로고
    • Infantile onset spinocerebellar ataxia: MR and CT findings
    • Koskinen T., Valanne L., Ketonen L., Pihko H. Infantile onset spinocerebellar ataxia: MR and CT findings. Am J Neuroradiol. 16:1995;1427-1433.
    • (1995) Am J Neuroradiol , vol.16 , pp. 1427-1433
    • Koskinen, T.1    Valanne, L.2    Ketonen, L.3    Pihko, H.4
  • 27
    • 0028789418 scopus 로고
    • Primary hypogonadism in females with infantile onset spinocerebellar ataxia
    • Koskinen T., Pihko H., Voutilainen R. Primary hypogonadism in females with infantile onset spinocerebellar ataxia. Neuropaediatrics. 26:1995;263-266.
    • (1995) Neuropaediatrics , vol.26 , pp. 263-266
    • Koskinen, T.1    Pihko, H.2    Voutilainen, R.3
  • 28
    • 0019954153 scopus 로고
    • Ultrastructural observations on spinal ganglion biopsy in Friedreich's ataxia: A preliminary report
    • Lamarche J., Luneau C., Lemieux B. Ultrastructural observations on spinal ganglion biopsy in Friedreich's ataxia: a preliminary report. Can J Neurol Sci. 9:1982;137-139.
    • (1982) Can J Neurol Sci , vol.9 , pp. 137-139
    • Lamarche, J.1    Luneau, C.2    Lemieux, B.3
  • 29
    • 0021721469 scopus 로고
    • The neuropathology of typical Friedreich's ataxia in Quebec
    • Lamarche J.B., Lemieux B., Lieu H.B. The neuropathology of typical Friedreich's ataxia in Quebec. Can J Neurol Sci. 11:1984;592-600.
    • (1984) Can J Neurol Sci , vol.11 , pp. 592-600
    • Lamarche, J.B.1    Lemieux, B.2    Lieu, H.B.3
  • 30
    • 0015024438 scopus 로고
    • An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia
    • McLeod J.G. An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia. J Neurol Sci. 12:1971;33-349.
    • (1971) J Neurol Sci , vol.12 , pp. 33-349
    • McLeod, J.G.1
  • 31
    • 0028335386 scopus 로고
    • Dentatorubral and pallidolysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S., Yanagisawa H., Sato K.et al. Dentatorubral and pallidolysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 6:1994;14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 32
    • 0030848204 scopus 로고    scopus 로고
    • Clinical aspects of CAG repeat diseases
    • Nance M.A. Clinical aspects of CAG repeat diseases. Brain Pathol. 7:1997;881-900.
    • (1997) Brain Pathol , vol.7 , pp. 881-900
    • Nance, M.A.1
  • 33
    • 0028949919 scopus 로고
    • Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
    • Nikali K., Suomalainen A., Terwilliger J., Koskinen T., Weissenbach J., Peltonen L. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet. 56:1995;1088-1095.
    • (1995) Am J Hum Genet , vol.56 , pp. 1088-1095
    • Nikali, K.1    Suomalainen, A.2    Terwilliger, J.3    Koskinen, T.4    Weissenbach, J.5    Peltonen, L.6
  • 34
    • 0031568287 scopus 로고    scopus 로고
    • Toward cloning of a novel ataxia gene: Refined assignment and physical map of the IOSCA locus (SCA8) on 10q24
    • Nikali K., Isosomppi J., Lonnqvist T., Mao J.I., Suomalainen A., Peltonen L. Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics. 39:1997;185-191.
    • (1997) Genomics , vol.39 , pp. 185-191
    • Nikali, K.1    Isosomppi, J.2    Lonnqvist, T.3    Mao, J.I.4    Suomalainen, A.5    Peltonen, L.6
  • 35
    • 0018392248 scopus 로고
    • Brain lesions in Friedreich's ataxia
    • Oppenheimer D.R. Brain lesions in Friedreich's ataxia. Can J Neurol Sci. 6:1979;173-176.
    • (1979) Can J Neurol Sci , vol.6 , pp. 173-176
    • Oppenheimer, D.R.1
  • 36
    • 0027164698 scopus 로고
    • Expansion of unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr H.T., Chung M., Banfi S.et al. Expansion of unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:1993;221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 37
    • 0028876572 scopus 로고
    • Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
    • Ouachi K., Arita M., Kayden H.et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 9:1995;141-145.
    • (1995) Nat Genet , vol.9 , pp. 141-145
    • Ouachi, K.1    Arita, M.2    Kayden, H.3
  • 38
    • 0019979781 scopus 로고
    • Friedreich's ataxia. Early detection and progression of peripheral nerve abnormalities
    • Ouvrier R.A., McLeod J.G., Conchin T.E. Friedreich's ataxia. Early detection and progression of peripheral nerve abnormalities. J Neurol Sci. 55:1982;137-145.
    • (1982) J Neurol Sci , vol.55 , pp. 137-145
    • Ouvrier, R.A.1    McLeod, J.G.2    Conchin, T.E.3
  • 39
    • 0028941326 scopus 로고
    • Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
    • Palau F., De Michele G., Vilchez J.J.et al. Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol. 37:1995;359-362.
    • (1995) Ann Neurol , vol.37 , pp. 359-362
    • Palau, F.1    De Michele, G.2    Vilchez, J.J.3
  • 41
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]
    • Pulst S.M., Nechiporuk A., Nechiporuk T.et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet. 14:1996;269-276.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 42
    • 0028859878 scopus 로고
    • Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
    • Rosenberg R.N. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology. 45:1995;1-5.
    • (1995) Neurology , vol.45 , pp. 1-5
    • Rosenberg, R.N.1
  • 43
    • 0025295881 scopus 로고
    • Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients
    • Santoro L., Perretti A., Crisci C.et al. Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients. Muscle Nerve. 13:1990;536-540.
    • (1990) Muscle Nerve , vol.13 , pp. 536-540
    • Santoro, L.1    Perretti, A.2    Crisci, C.3
  • 44
    • 0002268159 scopus 로고    scopus 로고
    • Neuroembryology
    • In: Berg BO, editor. New York: McGraw-Hill
    • Sarnat HB. Neuroembryology. In: Berg BO, editor. Principles of child neurology. New York: McGraw-Hill, 1996:607-627.
    • (1996) Principles of Child Neurology , pp. 607-627
    • Sarnat, H.B.1
  • 45
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • Savitsky K., Bar-Shira A., Gilad S.et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 268:1995;1749-1753.
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3
  • 46
    • 0016151007 scopus 로고
    • Optic and cochleovestibular degenerations in hereditary ataxias. II. Temporal bone pathology in 2 cases of Friedreich's ataxia with vestibulo-cochlear disorders
    • Spoendlin H. Optic and cochleovestibular degenerations in hereditary ataxias. II. Temporal bone pathology in 2 cases of Friedreich's ataxia with vestibulo-cochlear disorders. Brain. 97:1974;41-48.
    • (1974) Brain , vol.97 , pp. 41-48
    • Spoendlin, H.1
  • 47
    • 0028911758 scopus 로고
    • Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus
    • Twist E.C., Casaubon L.K., Ruttledge M.H.et al. Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet. 32:1995;25-31.
    • (1995) J Med Genet , vol.32 , pp. 25-31
    • Twist, E.C.1    Casaubon, L.K.2    Ruttledge, M.H.3
  • 48
  • 49
    • 0030825723 scopus 로고    scopus 로고
    • Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
    • Wilson R.B., Roof D.M. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet. 16:1997;352-357.
    • (1997) Nat Genet , vol.16 , pp. 352-357
    • Wilson, R.B.1    Roof, D.M.2
  • 50
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O., Bailey J., Bonnen P.et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 15:1997;62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 51
    • 0030294445 scopus 로고    scopus 로고
    • The expanding world of ataxins [news; Comment]
    • Zoghbi H.Y. The expanding world of ataxins [news; comment]. Nat Genet. 14:1996;237-238.
    • (1996) Nat Genet , vol.14 , pp. 237-238
    • Zoghbi, H.Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.