Journal Mobile Options
Table of Contents
Vol. 43, No. 2, 2000
Issue release date: February 2000
Eur Neurol 2000;43:82–87

Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

Tachi N. · Kozuka N. · Ohya K. · Chiba S. · Sasaki K.
aSchool of Health Sciences and bDepartment of Pediatrics, Sapporo Medical University, School of Medicine, and cHokkaido Prefectural Rehabilitation Center for Physically Handicapped Children, Sapporo, Japan

Individual Users: Register with Karger Login Information

Please create your User ID & Password

Contact Information

I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in


We present here 5 patients with hereditary cerebellar ataxia with peripheral neuropathy and mental retardation as determined by clinical, pathological, and molecular studies. The most characteristic features of this disorder, in contrast to Friedreich’s ataxia, were early onset of ataxic gait, mental retardation, and a marked atrophy of the cerebellum. Sural nerve biopsy showed a reduction of myelinated fibers. The expansion of a GAA triplet repeat within the first intron of the frataxin gene, which causes Friedreich’s ataxia, was not identified in any of the patients. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation represents a specific clinical entity that so far has only been described in Japan.

Copyright © 2000 S. Karger AG, Basel

Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.


  1. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221–226.
  2. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285–291.
  3. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221–228.
  4. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62–69.
  5. David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65–70.
  6. Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ: Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996;59:392–399.
  7. Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM: Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280–284.
  8. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP: An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379–384.
  9. Harding AE: 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 1981;104:589–620.
  10. Oppenheimer DR: Brain lesions in Friedreich’s ataxia. Can J Neurol Sci 1979;6:173–176.

    External Resources

  11. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Palau F, Patel PI, DiDonato S, Mandel J-L, Cocozza S, Koenig M, Pandolfo M: Friedreich’s ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423–1427.
  12. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel J-L, Brice A, Koenig M: Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 1996;335:1169–1175.
  13. Uekawa K, Yuasa T, Kawasaki S, Makibuchi T, Ideta T: A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia. Clin Neurol (Tokyo) 1992;32:1067–1074.
  14. Fukuhara N, Nakajima T, Nakajiri K, Matsubara N, Fujita M: Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): A new disease. J Neurol Sci 1995;133:140–151.

    External Resources

  15. Hanihara T, Kubota H, Amano N, Iwamoto H, Iwabuchi K: Siblings with early onset cerebellar ataxia with hypoalbuminemia. Clin Neurol (Tokyo) 1995;35:83–86.
  16. Sekijima Y, Ohara S, Nakagawa S, Tabata K, Yoshida K, Ishigame H, Shimizu Y, Yanagisawa N: Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): Clinical and neuropathological features of a Japanese family. J Neurol Sci 1998;158:30–37.
  17. Hagberg BA, Blennow G, Kristiansson B, Stibler H: Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders. Pediatr Neurol 1993;9:255–262.
  18. Salen G, Grundy SM: The metabolism of cholestanol, cholesterol, and bile acids in cerebrotendinous xanthomatosis. J Clin Invest 1973;52:2822–2835.
  19. Ouahechi K, Arita M, Kayden H, Hentati F, Ben-Hamida M, Sokol R, Arai H, Inoue K, Mandel J-L, Koenig M: Ataxia with isolated with vitamin E deficiency caused by mutation in the alpha-tocopherol transfer protein. Nat Genet 1995;9:141–145.
  20. Hentati A, Deng HX, Hung WY, Nayer M, Ahmed MS, He X, Tim R, Stumpf DA, Siddique T: Human alpha-tocopherol transfer protein: Gene structure and mutation in family vitamin E deficiency. Ann Neurol 1996;39:295–300.

Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50