The Cerebellum

, Volume 7, Issue 2, pp 179–183

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

Authors

  • J. Delplanque
    • INSERM U837, Jean-Pierre Aubert Research Center
  • D. Devos
    • Department of Neurology, Salengro Hospital, Regional University Hospital Center, and EA2683, Institut de Médecine Prédictive et de Recherche ThérapeutiqueUniversity of Lille
  • I. Vuillaume
    • Department of Neurobiology, Salengro Hospital, Regional University Hospital CenterUniversity of Lille
  • A. De Becdelievre
    • INSERM U837, Jean-Pierre Aubert Research Center
    • Department of Neurobiology, Salengro Hospital, Regional University Hospital CenterUniversity of Lille
  • E. Vangelder
    • INSERM U837, Jean-Pierre Aubert Research Center
  • C. A. Maurage
    • Department of NeuropathologyRegional University Hospital Center
  • K. Dujardin
    • Department of Neurology, Salengro Hospital, Regional University Hospital Center, and EA2683, Institut de Médecine Prédictive et de Recherche ThérapeutiqueUniversity of Lille
  • A. Destée
    • Department of Neurology, Salengro Hospital, Regional University Hospital Center, and EA2683, Institut de Médecine Prédictive et de Recherche ThérapeutiqueUniversity of Lille
    • INSERM U837, Jean-Pierre Aubert Research Center
    • Department of Neurobiology, Salengro Hospital, Regional University Hospital CenterUniversity of Lille
    • INSERM U837, Laboratoire G.Biserte, Faculté de Médecine
Original Article

DOI: 10.1007/s12311-008-0014-3

Cite this article as:
Delplanque, J., Devos, D., Vuillaume, I. et al. Cerebellum (2008) 7: 179. doi:10.1007/s12311-008-0014-3

Abstract

Spinocerebellar ataxia 21 is a slowly progressive and mild ataxia associated with extrapyramidal signs. Affected subjects exhibit a moderate gait and limb ataxia variably associated with akinesia, tremor, rigidity, hyporeflexia, and mild cognitive impairment. The responsible gene has been assigned to a 19 Mbases interval on chromosome 7p in a single French family. No evidence of significant linkage to this locus was found in 21 other families obtained from the EUROSCA consortium. The locus interval contains several candidate genes that could be responsible for the disease. Direct sequencing of NDUFA4, PHF14, KIAA0960, ARLA4, ETV1, DGKB, HDAC9, FERD3L, ITGB8, and SP4 genes were performed, but all the direct mutation analyses were negative excluding pathogenic mutations associated with the disease. Therefore, the gene responsible for SCA21 remains to be identified.

Key words

Ataxia SCA21 locus extrapyramidal features linkage French family

Copyright information

© Springer Science+Business Media, LLC 2008