SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
Acta Neurologica Scandinavica. 2011-03-21; 125(2): 116-122
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1. Acta Neurol Scand. 2012 Feb;125(2):116-22. doi: 10.1111/j.1600-0404.2011.01504.x.
Epub 2011 Mar 21.
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a
novel mutation in the PRKCG gene.
Koht J(1), Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM.
(1)INSERM U, Paris, France.
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%.
© 2011 John Wiley & Sons A/S.
PMID: 21434874 [Indexed for MEDLINE]