Journal of the Neurological Sciences
Volume 200, Issue 1 , Pages 19-25 , 15 August 2002

Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado–Joseph disease

  • E Muñoz

      Affiliations

    • Neurology Service, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
    • ,
  • M.J Rey

      Affiliations

    • Neurological Tissues Bank, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
    • ,
  • M Milà

      Affiliations

    • Genetics Service, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
    • ,
  • A Cardozo

      Affiliations

    • Neurological Tissues Bank, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
    • ,
  • T Ribalta

      Affiliations

    • Neurological Tissues Bank, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
    • ,
  • E Tolosa

      Affiliations

    • Neurology Service, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
    • Neurological Tissues Bank, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
    • ,
  • I Ferrer

      Affiliations

    • Corresponding Author InformationCorresponding author. Institut de Neuropatologia, Servei Anatomia Patològica, Hospital Princeps d'Espanya, Universitat de Barcelona, carrer Feixa Llarga sn, 08907 Hospitalet de Llobregat, Spain. Tel.: +34-93-403-5808; fax: +34-93-204-5065
    • Neurological Tissues Bank, Hospital Clinic and University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain

Received 10 October 2001 ,Revised 19 April 2002 ,Accepted 22 April 2002.

References 

  1. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al.  CAG expansions in a novel gene for Machado–Joseph disease at chromosome 14q32.1. Nat. Genet. 1994;8:221–228
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PII: S0022-510X(02)00110-7

Journal of the Neurological Sciences
Volume 200, Issue 1 , Pages 19-25 , 15 August 2002

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