Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Citation
R. Guerrini et al., Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2, ANN NEUROL, 45(3), 1999, pp. 344-352
Citations number
64
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
ANNALS OF NEUROLOGY
ISSN journal
03645134 → ACNP
Volume
45
Issue
3
Year of publication
1999
Pages
344 - 352
Database
ISI
SICI code
0364-5134(199903)45:3<344:ARREWP>2.0.ZU;2-0
Abstract
We describe a pedigree in which 3 members in the same generation are affect ed by Rolandic epilepsy (RE), paroxysmal exercise-induced dystonia (PED), a nd writer's cramp (WC), Both the seizures and paroxysmal dystonia had a str ong age-related expression that peaked during childhood, whereas the WC, al so appearing in childhood has been stable since diagnosis. Genome-wide link age analysis performed under the assumption of recessive inheritance identi fied a common homozygous haplotype in a critical region spanning 6 cM betwe en markers D16S3133 and D16S3131 on chromosome 1.6,. cosegregating with the affected phenotype and producing a multipoint LOD score value of 3.68. Alt hough its features are unique, this syndrome presents striking analogies wi th the autosomal dominant infantile convulsions and paroxysmal coreoathetos is (ICCA) syndrome, linked to a 10 cM region between D16S401 and D16S517, w hich entirely includes the 6 cM of the RE-PED-WC critical region. The same gene map be responsible for both RE-PED-WC and ICCA, with specific mutation s explaining each of these Mendelian disorders. This report shows that idio pathic focal disorders such as epilepsy and dystonia, can. be caused by: th e same genetic abnormality, may have a transient expression, and may be inh erited as an autosomal recessive trait.