Skip to main content
PMC home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1998 Oct;65(4):530–534. doi: 10.1136/jnnp.65.4.530

Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease

T Yokota 1, H Sasaki 1, K Iwabuchi 1, T Shiojiri 1, A Yoshino 1, A Otagiri 1, A Inaba 1, T Yuasa 1
PMCID: PMC2170300  PMID: 9771779

Abstract

OBJECTIVES—To characterise electrophysiologically the central motor conduction of spinocerebellar atrophy type 1 (SCA1), type 2 (SCA2), and Machado-Joseph disease (MJD).
METHODS—Motor evoked potentials (MEPs) triggered by transcranial magnetic stimulation (TMS) was used to investigate the functions of corticospinal tracts of 10 patients with SCA1, 10 with MJD, and eight with SCA2 in addition to pathological study of the spinal cord in a patient with SCA1.
RESULTS—Central motor conduction time (CMCT) was extremely prolonged and the MEP threshold increased in all patients with SCA1, whereas both were normal in patients with SCA2 or MJD. The MEP size in MJD was larger than normal, but was normal in SCA1 and SCA2. A pathological investigation of the corticospinal tract of the spinal cord of a patient with SCA1 showed selective loss of large diameter fibres.
CONCLUSIONS—SCA1, SCA2, and MJD differ in their pathophysiological features of the central motor tract and can be differentiated from each other by MEP values for the lower limb muscles, even though their neurological symptoms are sometimes similar.



Full Text

The Full Text of this article is available as a PDF (187.6 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Day B. L., Rothwell J. C., Thompson P. D., Dick J. P., Cowan J. M., Berardelli A., Marsden C. D. Motor cortex stimulation in intact man. 2. Multiple descending volleys. Brain. 1987 Oct;110(Pt 5):1191–1209. doi: 10.1093/brain/110.5.1191. [DOI] [PubMed] [Google Scholar]
  2. Dubourg O., Dürr A., Cancel G., Stevanin G., Chneiweiss H., Penet C., Agid Y., Brice A. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol. 1995 Feb;37(2):176–180. doi: 10.1002/ana.410370207. [DOI] [PubMed] [Google Scholar]
  3. Dürr A., Stevanin G., Cancel G., Duyckaerts C., Abbas N., Didierjean O., Chneiweiss H., Benomar A., Lyon-Caen O., Julien J. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996 Apr;39(4):490–499. doi: 10.1002/ana.410390411. [DOI] [PubMed] [Google Scholar]
  4. Eisen A. A., Shtybel W. AAEM minimonograph #35: Clinical experience with transcranial magnetic stimulation. Muscle Nerve. 1990 Nov;13(11):995–1011. doi: 10.1002/mus.880131102. [DOI] [PubMed] [Google Scholar]
  5. Goldfarb L. G., Vasconcelos O., Platonov F. A., Lunkes A., Kipnis V., Kononova S., Chabrashvili T., Vladimirtsev V. A., Alexeev V. P., Gajdusek D. C. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol. 1996 Apr;39(4):500–506. doi: 10.1002/ana.410390412. [DOI] [PubMed] [Google Scholar]
  6. Hanihara T., Takahashi T., Inoue K., Yamada Y., Iwabuchi K. [Siblings with spinocerebellar ataxia type 1 (SCA 1)--diagnosis by detecting the expansion of CAG repeat on chromosome 6p]. Rinsho Shinkeigaku. 1994 May;34(5):508–510. [PubMed] [Google Scholar]
  7. Jones E. G., Wise S. P. Size, laminar and columnar distribution of efferent cells in the sensory-motor cortex of monkeys. J Comp Neurol. 1977 Oct 15;175(4):391–438. doi: 10.1002/cne.901750403. [DOI] [PubMed] [Google Scholar]
  8. Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221–228. doi: 10.1038/ng1194-221. [DOI] [PubMed] [Google Scholar]
  9. Orr H. T., Chung M. Y., Banfi S., Kwiatkowski T. J., Jr, Servadio A., Beaudet A. L., McCall A. E., Duvick L. A., Ranum L. P., Zoghbi H. Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul;4(3):221–226. doi: 10.1038/ng0793-221. [DOI] [PubMed] [Google Scholar]
  10. Sanpei K., Takano H., Igarashi S., Sato T., Oyake M., Sasaki H., Wakisaka A., Tashiro K., Ishida Y., Ikeuchi T. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996 Nov;14(3):277–284. doi: 10.1038/ng1196-277. [DOI] [PubMed] [Google Scholar]
  11. Sasaki H., Fukazawa T., Yanagihara T., Hamada T., Shima K., Matsumoto A., Hashimoto K., Ito N., Wakisaka A., Tashiro K. Clinical features and natural history of spinocerebellar ataxia type 1. Acta Neurol Scand. 1996 Jan;93(1):64–71. doi: 10.1111/j.1600-0404.1996.tb00173.x. [DOI] [PubMed] [Google Scholar]
  12. Sequeiros J., Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol. 1993;61:139–153. [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES