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SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

Authors

  • J. Koht,

    1. INSERM U975, Paris, France
    2. Faculty of Medicine, University of Oslo, Oslo, Norway
    3. Department of Neurology, Oslo University Hospital, Oslo, Norway
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  • G. Stevanin,

    1. INSERM U975, Paris, France
    2. UPMC Univ. Paris 6, UMR_S975, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, CNRS 7225, Groupe Hospitalier Pitié- Salpêtrière, Paris, France
    3. APHP, Groupe Hospitalier Pitié Salpêtrière, Département de Génétique et Cytogénétique, Paris, France
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  • A. Durr,

    1. INSERM U975, Paris, France
    2. UPMC Univ. Paris 6, UMR_S975, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, CNRS 7225, Groupe Hospitalier Pitié- Salpêtrière, Paris, France
    3. APHP, Groupe Hospitalier Pitié Salpêtrière, Département de Génétique et Cytogénétique, Paris, France
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  • E. Mundwiller,

    1. INSERM U975, Paris, France
    2. UPMC Univ. Paris 6, UMR_S975, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, CNRS 7225, Groupe Hospitalier Pitié- Salpêtrière, Paris, France
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  • A. Brice,

    1. INSERM U975, Paris, France
    2. UPMC Univ. Paris 6, UMR_S975, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, CNRS 7225, Groupe Hospitalier Pitié- Salpêtrière, Paris, France
    3. APHP, Groupe Hospitalier Pitié Salpêtrière, Département de Génétique et Cytogénétique, Paris, France
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  • C. M. E. Tallaksen

    1. Faculty of Medicine, University of Oslo, Oslo, Norway
    2. Department of Neurology, Oslo University Hospital, Oslo, Norway
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J. Koht, Department of Neurology, Faculty of Medicine, Oslo University Hospital, Ullevål, 0407 Oslo, Norway
Tel.: +47 23015969 or +4791632024
Fax: +47 23027455
e-mail: jeanette.koht@medisin.uio.no

Abstract

Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
Acta Neurol Scand: 2012: 125: 116–122.
© 2011 John Wiley & Sons A/S.

Objectives –  Despite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are explained by the CAG trinucleotide expansions. We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype.

Methods –  We screened a large dominant cerebellar ataxia cohort for mutations in the PRKCG gene. Patients were evaluated according to a standard clinical protocol for ataxia patients.

Results –  A novel mutation was found in two families, a C to A transversion altering Histidine to a Glutamine at codon 139, located in a highly concerved region in the gene. It completely co-segregated with the affected family members and was not seen in 576 control chromosomes. Genetic analysis revealed common alleles at three microsatellite markers between these two families suggesting a shared ancestral chromosome. Affected subjects displayed a mild, slowly progressive cerebellar syndrome that included gait and limb ataxia and saccadic pursuit and head tremor in one. Age at onset ranged from 10 to 45 years.

Conclusions –  These are the first families with SCA14 reported from Scandinavia and a new mutation in the PRKCG gene. The occurrence in the Norwegian dominant ataxia cohort is 3.5%.

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