메뉴 건너뛰기




Volumn 113, Issue 7, 2006, Pages 829-843

Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration

Author keywords

ADCA; Pathoanatomy; Polyglutamine diseases; SCA4; Spinocerebellar ataxias

Indexed keywords

GENOMIC DNA;

EID: 33745513217     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-005-0362-9     Document Type: Article
Times cited : (40)

References (51)
  • 2
    • 0035192709 scopus 로고    scopus 로고
    • Functional anatomy of auditory brainstem nuclei: Application to the anatomical basis of brainstem auditory evoked potentials
    • B Biacabe JM Chevallier P Avan P Bonfils 2001 Functional anatomy of auditory brainstem nuclei: application to the anatomical basis of brainstem auditory evoked potentials Auris Nasus Larynx 28 85 94
    • (2001) Auris Nasus Larynx , vol.28 , pp. 85-94
    • Biacabe, B.1    Chevallier, J.M.2    Avan, P.3    Bonfils, P.4
  • 3
    • 0037329884 scopus 로고    scopus 로고
    • Involvement of precerebellar nuclei in multiple system atrophy
    • H Braak U Rüb K Del Tredici 2003 Involvement of precerebellar nuclei in multiple system atrophy Neuropathol Appl Neurobiol 29 60 76
    • (2003) Neuropathol Appl Neurobiol , vol.29 , pp. 60-76
    • Braak, H.1    Rüb, U.2    Del Tredici, K.3
  • 6
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • K Flanigan K Gardner K Alderson B Galster B Otterud MF Leppert C Kaplan LJ Ptacek 1996 Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 Am J Hum Genet 59 392 399
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3    Galster, B.4    Otterud, B.5    Leppert, M.F.6    Kaplan, C.7    Ptacek, L.J.8
  • 7
    • 0344687366 scopus 로고    scopus 로고
    • Frontal cortical control of smooth-pursuit
    • K Fukushima 2003 Frontal cortical control of smooth-pursuit Curr Opin Neurobiol 13 647 654
    • (2003) Curr Opin Neurobiol , vol.13 , pp. 647-654
    • Fukushima, K.1
  • 10
    • 0034523402 scopus 로고    scopus 로고
    • The spinocerebellar ataxias
    • S Gilman 2000 The spinocerebellar ataxias Clin Neuropharmacol 23 296 303
    • (2000) Clin Neuropharmacol , vol.23 , pp. 296-303
    • Gilman, S.1
  • 11
    • 29144468586 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 4 - Investigation of 34 candidate genes
    • (Epub ahead of print)
    • Hellenbroich Y, Pawlack H, Rüb U, Schwinger E, Zühlke C (2005) Spinocerebellar ataxia type 4 - investigation of 34 candidate genes. J Neurol (Epub ahead of print)
    • (2005) J Neurol
    • Hellenbroich, Y.1    Pawlack, H.2    Rüb, U.3    Schwinger, E.4    Zühlke, C.5
  • 12
    • 0038119658 scopus 로고    scopus 로고
    • Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region
    • Y Hellenbroich S Bubel H Pawlack S Opitz P Vieregge E Schwinger C Zühlke 2003 Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region J Neurol 250 668 671
    • (2003) J Neurol , vol.250 , pp. 668-671
    • Hellenbroich, Y.1    Bubel, S.2    Pawlack, H.3    Opitz, S.4    Vieregge, P.5    Schwinger, E.6    Zühlke, C.7
  • 13
    • 0020582504 scopus 로고
    • A rapid myelin stain for frozen sections: Modifications of the Heidenhain procedure
    • B Hutchins JT Weber 1983 A rapid myelin stain for frozen sections: modifications of the Heidenhain procedure J Neurosci Meth 7 289 294
    • (1983) J Neurosci Meth , vol.7 , pp. 289-294
    • Hutchins, B.1    Weber, J.T.2
  • 14
    • 0031459216 scopus 로고    scopus 로고
    • Slow eye movements
    • UJ Ilg 1997 Slow eye movements Prog Neurobiol 53 291 329
    • (1997) Prog Neurobiol , vol.53 , pp. 291-329
    • Ilg, U.J.1
  • 15
    • 0033111229 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations
    • K Iwabuchi K Tsuchiya T Uchihara S Yagishita 1999 Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations Rev Neurol 155 255 270
    • (1999) Rev Neurol , vol.155 , pp. 255-270
    • Iwabuchi, K.1    Tsuchiya, K.2    Uchihara, T.3    Yagishita, S.4
  • 18
    • 0343526456 scopus 로고    scopus 로고
    • The molecular biology of the autosomal-dominant cerebellar ataxias
    • T Klockgether U Wüllner A Spauschus B Evert 2000 The molecular biology of the autosomal-dominant cerebellar ataxias Mov Disord 15 604 612
    • (2000) Mov Disord , vol.15 , pp. 604-612
    • Klockgether, T.1    Wüllner, U.2    Spauschus, A.3    Evert, B.4
  • 24
    • 0029055354 scopus 로고
    • Contribution from crossed and uncrossed brainstem structures to the brainstem auditory evoked potentials: A study in humans
    • AR Møller HD Jho M Yokota PJ Jannetta 1995 Contribution from crossed and uncrossed brainstem structures to the brainstem auditory evoked potentials: a study in humans Laryngoscope 105 596 605
    • (1995) Laryngoscope , vol.105 , pp. 596-605
    • Møller, A.R.1    Jho, H.D.2    Yokota, M.3    Jannetta, P.J.4
  • 28
    • 0002668617 scopus 로고
    • Human homologs to brainstem nuclei identified in other animals as revealed by acetylcholinesterase activity
    • Academic Press San Diego
    • G Paxinos I Törk G Halliday WR Mehler 1990 Human homologs to brainstem nuclei identified in other animals as revealed by acetylcholinesterase activity G Paxinos The human central nervous system Academic Press San Diego 149 202
    • (1990) The Human Central Nervous System , pp. 149-202
    • Paxinos, G.1    Törk, I.2    Halliday, G.3    Mehler, W.R.4    Paxinos, G.5
  • 29
    • 0034832938 scopus 로고    scopus 로고
    • Ataxia and hereditary disorders
    • H Paulson Z Ammache 2001 Ataxia and hereditary disorders Neurol Clin 19 759 782
    • (2001) Neurol Clin , vol.19 , pp. 759-782
    • Paulson, H.1    Ammache, Z.2
  • 32
    • 0034928789 scopus 로고    scopus 로고
    • The role of the cerebellum in voluntary eye movements
    • FR Robinson AF Fuchs 2001 The role of the cerebellum in voluntary eye movements Annu Rev Neurosci 24 981 1004
    • (2001) Annu Rev Neurosci , vol.24 , pp. 981-1004
    • Robinson, F.R.1    Fuchs, A.F.2
  • 33
    • 0030847065 scopus 로고    scopus 로고
    • The neuropathology of CAG repeat diseases: Review and update of genetic and molecular features
    • Y Robitaille I Lopes-Cendes M Becher G Rouleau AW Clark 1997 The neuropathology of CAG repeat diseases: review and update of genetic and molecular features Brain Pathol 7 901 926
    • (1997) Brain Pathol , vol.7 , pp. 901-926
    • Robitaille, Y.1    Lopes-Cendes, I.2    Becher, M.3    Rouleau, G.4    Clark, A.W.5
  • 34
    • 0037327486 scopus 로고    scopus 로고
    • Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient
    • U Rüb ER Brunt D Del Turco RA de Vos K Gierga H Paulson H Braak 2003a Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient Neuropathol Appl Neurobiol 29 1 13
    • (2003) Neuropathol Appl Neurobiol , vol.29 , pp. 1-13
    • Rüb, U.1    Brunt, E.R.2    Del Turco, D.3    De Vos, R.A.4    Gierga, K.5    Paulson, H.6    Braak, H.7
  • 37
    • 0037145709 scopus 로고    scopus 로고
    • Degeneration of the external cuneate nucleus in spinocerebellar ataxia type 3 (Machado-Joseph disease)
    • U Rüb RA de Vos ER Brunt C Schultz H Paulson K Del Tredici H Braak 2002a Degeneration of the external cuneate nucleus in spinocerebellar ataxia type 3 (Machado-Joseph disease) Brain Res 953 126 134
    • (2002) Brain Res , vol.953 , pp. 126-134
    • Rüb, U.1    De Vos, R.A.2    Brunt, E.R.3    Schultz, C.4    Paulson, H.5    Del Tredici, K.6    Braak, H.7
  • 38
    • 0036724130 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 3 (Machado-Joseph disease): Severe destruction of the lateral reticular nucleus
    • U Rüb RA de Vos C Schultz ER Brunt H Paulson H Braak 2002b Spinocerebellar ataxia type 3 (Machado-Joseph disease): severe destruction of the lateral reticular nucleus Brain 125 2115 2124
    • (2002) Brain , vol.125 , pp. 2115-2124
    • Rüb, U.1    De Vos, R.A.2    Schultz, C.3    Brunt, E.R.4    Paulson, H.5    Braak, H.6
  • 40
    • 17044447789 scopus 로고    scopus 로고
    • Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient
    • U Rüb C Schultz K Del Tredici K Gierga G Reifenberger RA de Vos C Seifried H Braak G Auburger 2003c Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient Neuropathol Appl Neurobiol 29 418 433
    • (2003) Neuropathol Appl Neurobiol , vol.29 , pp. 418-433
    • Rüb, U.1    Schultz, C.2    Del Tredici, K.3    Gierga, K.4    Reifenberger, G.5    De Vos, R.A.6    Seifried, C.7    Braak, H.8    Auburger, G.9
  • 43
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
    • L Schöls P Bauer T Schmidt T Schulte O Riess 2004 Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis Lancet Neurol 3 291 304
    • (2004) Lancet Neurol , vol.3 , pp. 291-304
    • Schöls, L.1    Bauer, P.2    Schmidt, T.3    Schulte, T.4    Riess, O.5
  • 44
    • 0020691444 scopus 로고
    • Polyethylene glycol embedding: A technique compatible with immunocytochemistry, enzyme histochemistry, histofluorescence and intracellular staining
    • KG Smithson BA [tmp] MacVicar GI Hatton 1983 Polyethylene glycol embedding: a technique compatible with immunocytochemistry, enzyme histochemistry, histofluorescence and intracellular staining Neurosci Methods 7 27 41
    • (1983) Neurosci Methods , vol.7 , pp. 27-41
    • Smithson, K.G.1    MacVicar, B.A.2    Hatton, G.I.3
  • 45
    • 0037209199 scopus 로고    scopus 로고
    • Antibody-based detection of CAG repeat expansion containing genes
    • Y Trottier 2003 Antibody-based detection of CAG repeat expansion containing genes Methods Mol Biol 217 83 89
    • (2003) Methods Mol Biol , vol.217 , pp. 83-89
    • Trottier, Y.1
  • 47
    • 0346023030 scopus 로고    scopus 로고
    • The human cerebellum
    • J Voogd 2003 The human cerebellum J Chem Neuroanat 26 243 252
    • (2003) J Chem Neuroanat , vol.26 , pp. 243-252
    • Voogd, J.1
  • 51
    • 0344223299 scopus 로고    scopus 로고
    • Isolation and characterization of novel CAG repeat containing genes expressed in human brain
    • C Zühlke R Kiehl A Johannsmeyer KH Grzeschik E Schwinger 1999 Isolation and characterization of novel CAG repeat containing genes expressed in human brain DNA Seq 10 1 6
    • (1999) DNA Seq , vol.10 , pp. 1-6
    • Zühlke, C.1    Kiehl, R.2    Johannsmeyer, A.3    Grzeschik, K.H.4    Schwinger, E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.