Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease, associated with unstable CAG expansion on chromosome 12p (Nagaruchi S. et al, Nat Genet 1994; 6:14-18). The disease is characterised by ataxia, choreoathetosis, dementia and, in cases of young onset , progressive myoclonus epilepsy (PME) with generalized seizures. Recently, 2 siblings exhibiting an early onset PME, with partial seizures , were described as carriers of DRPLA expansion (Hattori H. et al, Epilepsia 1997;38:271-274). This result prompted us to search for this expansion in a sample of 18 individuals with uncharacterized myoclonus epilepsy. We also considered for the analysis 1 diagnosed and 6 suspected PME1 as negative controls. PME onset age in our sample was between 1 month and 18 years. Familiarity for epilepsy was reported in 15% of cases. About 33% of patients presented only partial seizures, the remainder both generalised and partial plus generalised seizures. Molecular analysis was performed according to Koide R et al, Nat Genet 1994;6:9-13. No pathological expansion was found in the DRPLA gene.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Clinical Neurology