SYNE1 mutations in autosomal recessive cerebellar ataxia.
JAMA Neurol. 2013-08-19; :
DOI: 10.1001/jamaneurol.2013.3268
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1. JAMA Neurol. 2013 Oct;70(10):1296-31.
SYNE1 mutations in autosomal recessive cerebellar ataxia.
Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S,
Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA.
IMPORTANCE: Autosomal recessive cerebellar ataxia type I, also known as recessive
ataxia of Beauce, is a slowly progressive ataxia that leads to moderate
disability with gait ataxia, dysarthria, dysmetria, mild oculomotor
abnormalities, and diffuse cerebellar atrophy on brain imaging. Mutations in the
synaptic nuclear envelope protein 1 (SYNE1) gene, located on chromosome 6p25,
were first reported in patients who originated from a region known as “Beauce” in
the province of Quebec, Canada.
OBJECTIVE: To better evaluate the prevalence of SYNE1 mutations in individuals
with mild pure cerebellar ataxia and cerebellar atrophy, we screened the gene in
additional French-Canadian (FC) families and individuals from other populations.
DESIGN, SETTING, AND PARTICIPANTS: Study participants were referred by their
treating physician on the basis of core features of autosomal recessive
cerebellar ataxia type I. After excluding individuals with known SYNE1 mutations,
our cohort was composed mainly of 19 FCs and 21 individuals from other ethnic
backgrounds.
INTERVENTIONS: Extraction of DNA from blood samples and complete resequencing of
the SYNE1 gene.
MAIN OUTCOMES AND MEASURES: The involvement of SYNE1 mutations in individuals
with ataxia worldwide by resequencing the SYNE1 gene.
RESULTS: Two novel truncating mutations were found among the FC participants, and
2 other novel mutations were found in a patient from France and a patient from
Brazil (1 mutation each).
CONCLUSIONS AND RELEVANCE: This is the second report, to our knowledge, of SYNE1
gene mutations in a population other than FCs. These data suggest that mutations
in SYNE1 should be investigated in families with cerebellar ataxia who live
outside the FC region.
DOI: 10.1001/jamaneurol.2013.3268
PMID: 23959263 [Indexed for MEDLINE]