RESUMO
PURPOSE: External trigeminal nerve stimulation is an emerging noninvasive therapy for drug resistant epilepsy (DRE). The aim of this study is to describe the long-term outcome of a series of patients treated with eTNS. METHODS: We present a retrospective observational study of patients with DRE who received eTNS treatment, comparing the monthly seizure frequency during the 3-months period before eTNS initiation with the monthly seizure frequency at 6, 12, 24, 36 and 48 months after eTNS. We analyze the responder rate, the retention rate and the tolerability. RESULTS: 17 patients with highly drug-resistant epilepsy were included. Mean follow-up was 2194 [6-56] months. The responder rate was 35% at 6 months and 12 months, 23% at 24 months, 19% at 36 months, and 14% at 48 months. Retention rates at the same periods were 88%, 53%, 41%, 37.5% and 28.5%. There were no reports of serious adverse events. Four patients reported improvement in sleep and better mood. CONCLUSION: The effectivity of eTNS is similar to some of the new treatments available, with a retention rate of 52% in the first year and 285% at 4 years. Tolerability is excellent with only mild effects reported by a minority of patients.
Assuntos
Epilepsia Resistente a Medicamentos/terapia , Terapia por Estimulação Elétrica , Adolescente , Adulto , Criança , Epilepsia Resistente a Medicamentos/complicações , Terapia por Estimulação Elétrica/métodos , Seguimentos , Humanos , Pessoa de Meia-Idade , Cooperação do Paciente , Estudos Retrospectivos , Convulsões/etiologia , Convulsões/terapia , Resultado do Tratamento , Nervo Trigêmeo , Adulto JovemRESUMO
For diagnostic purposes, we screened for the C9ORF72 mutation in a) 162 FTLD cases, and b) 145 cases with other diagnoses but with some frontotemporal features or manifestations previously reported in C9 carriers. Ten cases (onset 50 to 75 years) harbored the expansion: seven had FTLD syndromes (4.3% of total, 11% of familial cases), and three (2%) had a different diagnosis. All positive cases had family history of dementia, psychiatric disease, or ALS, but only 20% of families with mixed FTLD/ALS phenotypes carried the expansion. Language impairment was the most common symptom, followed by behavioral changes, memory deficits, and parkinsonism. C9ORF72 mutation has a low frequency in our dementia series and very diverse clinical manifestations.