Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.
Neurology. 2010-06-14; 74(24): 2000-2003
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1. Neurology. 2010 Jun 15;74(24):2000-3. doi: 10.1212/WNL.0b013e3181e396a8.
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps
Depienne C(1), Magnin E, Bouteiller D, Stevanin G, Saint-Martin C, Vidailhet M,
Apartis E, Hirsch E, LeGuern E, Labauge P, Rumbach L.
(1)INSERM, UMR_S975, Université Pierre et Marie Curie-Paris 6, CNRS 7225, Centre
de Recherche-Institut du Cerveau et de la Moelle, Paris, France.
BACKGROUND: Familial cortical myoclonic tremor with epilepsy (FCMTE) is defined
by autosomal dominant adult-onset cortical myoclonus (CM) and seizures in 40% of
patients. Two loci, 8q23.3-q24.11 (FAME1/FCMTE1) and 2p11.1-q12.2 (FAME2/FCMTE2),
were previously reported without an identified gene. Unlinked families argue for
a third mutated gene.
METHODS: A genome-wide scan was performed in a large FCMTE family using
Linkage-12 microarrays (Illumina). Refinement of the locus on 5p was performed by
genotyping 13 polymorphic microsatellite markers in the 45 available family
RESULTS: This large French FCMTE family included 16 affected relatives. The first
symptoms were CM in 5 patients (31.2%), seizures in 5 patients (31.2%), and both
at the same time in 6 patients (37.5%). A total of 12.5% (2/16) had only CM
without seizures. The genome-wide scan identified a single region on 5p15.31-p15,
with a multipoint lod score of 3.66. Further genotyping of all family members
confirmed that the region spans 9.31 Mb between D5S580 and D5S2096, 2-point lod
scores reaching 6.3 at theta = 0 for D5S486. Sequencing of the SEMA5A and CTNND2
genes failed to detect mutations.
CONCLUSIONS: We report the clinical and genetic characteristics of a large
familial cortical myoclonic tremor with epilepsy family. The third gene maps to
5p15.31-p15. Identification of the mutated gene is ongoing.
PMID: 20548044 [Indexed for MEDLINE]