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
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
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.