A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17

Nocturnal frontal lobe epilepsy (NFLE) comprises a complex spectrum of distinct paroxysmal sleep-related attacks of variable intensity, including paroxysmal arousals, nocturnal paroxysmal dystonias and epileptic nocturnal wanderings. Scalp EEG and brain MRI are unable to reveal abnormalities in a considerable amount of patients. In those cases the epileptic nature of NFLE is supported by the stereotypical clinical presentation of the episodes and the often dramatic response to antiepileptic drugs (AEDs) like Carbamazepine, Clonazepam or Topiramate. Spinocerebellar ataxia type 17 (SCA 17) is a neurodegenerative disease caused by the expansion above 44 units of a CAG/CAA repeat in the coding region of the TATA box binding protein (TBP) gene. It is one of the rarer forms amongst autosomal dominant cerebellar ataxias, with extreme variable age at onset and clinical phenotype. Epilepsy is quite commonly observed among SCA 17 patients, however it is exclusively described in terms of generalized tonic–clonic seizures. We report a case of NFLE occurring in a SCA 17 patient and brilliantly responsive to Topiramate after failure of the first line therapy with Carbamazepine.