[Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis].

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  • Author(s): Danek A;Danek A
  • Source:
    Der Nervenarzt [Nervenarzt] 2002 Jun; Vol. 73 (6), pp. 564-9.
  • Publication Type:
    English Abstract; Journal Article
  • Language:
    German
  • Additional Information
    • Transliterated Title:
      Fortschritte in der molekularen Chorea-Diagnostik. McLeod-Syndrom und Chorea-Akanthozytose.
    • Source:
      Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0400773 Publication Model: Print Cited Medium: Print ISSN: 0028-2804 (Print) Linking ISSN: 00282804 NLM ISO Abbreviation: Nervenarzt Subsets: MEDLINE
    • Publication Information:
      Original Publication: Berlin : Springer Verlag
    • Subject Terms:
      Amino Acid Transport Systems, Neutral/*genetics ; Chorea/*genetics ; Proteins/*genetics; Brain/pathology ; Chorea/diagnosis ; Chromosomes, Human, Pair 9 ; DNA Mutational Analysis ; Diagnosis, Differential ; Humans ; Huntington Disease/diagnosis ; Huntington Disease/genetics ; Magnetic Resonance Imaging ; Neurologic Examination ; Neuropsychological Tests ; Sex Chromosome Aberrations ; Syndrome ; Vesicular Transport Proteins ; X Chromosome
    • Abstract:
      McLeod syndrome and chorea-acanthocytosis are classified with the so-called neuroacanthocytosis group of syndromes. Both lead to progressive basal ganglia degeneration and were not easily distinguished in the past. With the discovery of their molecular bases, mutations of the X-linked gene XK and autosomal recessive mutations of the gene coding for chorein, respectively, the two phenotypes can now be differentiated and extend the diagnostic spectrum in patients presenting with chorea. The present review compares the two conditions and proposes a practical approach to diagnosis and treatment. Better-defined disease concepts should eventually replace the umbrella term of "neuroacanthocytosis." Animal models are needed to understand the underlying mechanisms. A final common pathway is likely for the pathogenesis of these conditions and is most probably shared with Huntington's disease.
    • Accession Number:
      0 (Amino Acid Transport Systems, Neutral)
      0 (Proteins)
      0 (VPS13A protein, human)
      0 (Vesicular Transport Proteins)
      0 (XK protein, human)
    • Publication Date:
      Date Created: 20020924 Date Completed: 20021217 Latest Revision: 20191025
    • Publication Date:
      20221213
    • Accession Number:
      10.1007/pl00020831
    • Accession Number:
      12243006