Journal of Neurology

, Volume 249, Issue 7, pp 923–929

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1–3, 6 and 7 CAG expansions

  • Alfredo Brusco
  • Claudia Cagnoli
  • Alessandra Franco
  • Elisa Dragone
  • Antonella Nardacchione
  • Enrico Grosso
  • Paolo Mortara
  • Roberto Mutani
  • Nicola Migone
  • Laura Orsi
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-002-0760-y

Cite this article as:
Brusco, A., Cagnoli, C., Franco, A. et al. J Neurol (2002) 249: 923. doi:10.1007/s00415-002-0760-y

Abstract.

Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders, six of which are caused by expansion of a polyglutamine-coding CAG repeats (SCA1- 3, 6, 7 and 17). In addition, expansions of a CAG triplet in the 5' region of a gene and a CTG triplet in an antisense RNA have been demonstrated in the SCA12 and SCA8 genes respectively. Our series of 134 ataxic patients (22 familial and 112 sporadic, tested negative for SCAI–3, 6, 7) was investigated for the presence of triplet expansions in the SCA8 and SCA12 genes. No SCA12 expansion was identified. A moderate SCA8 expansion (85–97 repeats) was found in two unrelated families with slowly progressive cerebellar ataxia. The frequency of SCA8 expansion accounts for ∼4.3 % of the whole pool of our ataxia families (2 out of 46), while none of the 127 controls screened carried > 35 CTG+CTA repeats. Our data suggest a possible pathogenetic role of this mutation, which at present is still controversial, and confirm the rarity of the SCA12 expansion in Italian patients.

Key words SCA Spinocerebellar ataxia CAG repeat polyglutamines 

Copyright information

© Steinkopff Verlag 2002

Authors and Affiliations

  • Alfredo Brusco
    • 1
  • Claudia Cagnoli
    • 1
  • Alessandra Franco
    • 3
  • Elisa Dragone
    • 2
  • Antonella Nardacchione
    • 1
  • Enrico Grosso
    • 2
  • Paolo Mortara
    • 3
  • Roberto Mutani
    • 3
  • Nicola Migone
    • 1
  • Laura Orsi
    • 3
  1. 1.Dipartimento di Genetica, Biologia e Biochimica, via Santena 19, 10126 Torino, Italy. Tel.: +39-0 11/6 70 66 62, Fax: +39-0 11/6 70 65 82, E-Mail: a.brusco@cios.to.cnr.itIT
  2. 2.Unità Operativa Universitaria di Genetica Medica, Azienda Ospedaliera S. Giovanni Battista, via Santena 19, 10126, Torino, ItalyIT
  3. 3.Dipartimento di Neuroscienze, Università di Torino, via Cherasco 15, 10126, Torino, ItalyIT

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