RESUMEN
A 43-year-old man presented with ataxia and stiffness of lower limbs for approximately last 10 years. The clinical examination revealed bilateral parkinsonism The magnetic resonance imaging of the brain and spine showed no structural abnormality to explain his symptoms. However, the dopamine transporter scan showed abnormal tracer uptake in both basal ganglia, suggestive of degenerative parkinsonism. The next generation sequencing of spastic paraparesis gene panel revealed probably pathogenic novel mutation in the SPG7 gene. Though the exact mechanism of parkinsonism in SPG 7 mutation is unclear, mitochondrial dysfunction and oxidative stress seem to play a key role. SPG7 mutation should be considered as a cause of early onset degenerative parkinsonism when no alternative explanation can be found.
Asunto(s)
Paraparesia Espástica , Trastornos Parkinsonianos , Paraplejía Espástica Hereditaria , ATPasas Asociadas con Actividades Celulares Diversas/genética , Adulto , Humanos , Imagen por Resonancia Magnética , Masculino , Metaloendopeptidasas/genética , Mutación , Trastornos Parkinsonianos/diagnóstico por imagen , Trastornos Parkinsonianos/genética , Paraplejía Espástica Hereditaria/diagnóstico por imagen , Paraplejía Espástica Hereditaria/genéticaRESUMEN
PURPOSE: There is a shortfall of suitably powered studies to provide evidence for safe prescribing of AEDs to people with Intellectual Disability (ID). We report clinically useful information on differences in response to Perampanel (PER) adjunctive treatment for refractory epilepsy between ID sub-groups and general population from the UK Ep-ID Research Register. METHOD: Pooled retrospective case notes data of consented people with epilepsy (PWE) prescribed PER from 6 UK centres was classified as per WHO guidance into groups of moderate -profound ID, mild ID and General population. Demographics, concomitant AEDs, starting and maximum dosage, exposure length, adverse effects, dropout rates, seizure type and frequency were collected. Group differences were reported as odds ratios estimated from univariable logistic regression models. RESULTS: Of the 144 PWE (General population 71, Mild ID 48, Moderate to profound ID 48) examined the association between withdrawal and ID type was marginally statistically significant (p=0.07). Moderate to profound ID PWE were less likely to come off PER compared to mild ID (OR=0.19, CI=0.04-0.92, p=0.04). Differences in mental health side effects by groups was marginally statistically significant (p=0.06). Over 50% seizure improvement was seen in 11% of General population, 24% mild ID and 26% Moderate to profound ID. CONCLUSIONS: PER seems safe in PWE with ID. It is better tolerated by PWE with Moderate to profound ID than PWE with higher functioning. Caution is advised when history of mental health problems is present. The standardised approach of the Ep-ID register UK used confirms that responses to AEDs by different ID groups vary between themselves and General population.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Discapacidad Intelectual/complicaciones , Piridonas/uso terapéutico , Adulto , Anciano , Anticonvulsivantes/efectos adversos , Epilepsia/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nitrilos , Piridonas/efectos adversos , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
INTRODUCTION: An assessment was made of general symptoms in patients with psychogenic nonepileptic seizures (PNES), comparing those who do versus those who do not accept the diagnosis. METHOD: A questionnaire pilot study of newly diagnosed psychogenic nonepileptic seizure patients confirmed by video electroencephalography (EEG) was carried out, using a 59-item general symptom questionnaire, with frequency (score) ranging from never (0) to every day (5). Subsequent blinded assessment of patient's acceptance of diagnosis was made. RESULTS: Of 13 patients studied, over a 5-month period, 8 accepted the diagnosis, and 5 did not. Acceptance of diagnosis was associated with a lower total symptom score (p < .001) and significantly lower symptom scores in 7 of the 10 symptom subscales. CONCLUSION: The underlying symptomatology of psychogenic nonepileptic seizure patients differs between those who do versus those who do not accept the diagnosis. The complexity of additional symptoms may contribute to poorer outcomes in those that do not accept the psychogenic nonepileptic seizure diagnosis.
Asunto(s)
Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/psicología , Convulsiones/diagnóstico , Convulsiones/psicología , Adolescente , Adulto , Electroencefalografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Convulsiones/fisiopatología , Encuestas y Cuestionarios , Adulto JovenAsunto(s)
Recolección de Datos , Sistemas de Administración de Bases de Datos , Enfermedades del Sistema Nervioso , Neurología/estadística & datos numéricos , Recolección de Datos/normas , Recolección de Datos/estadística & datos numéricos , Sistemas de Administración de Bases de Datos/normas , Sistemas de Administración de Bases de Datos/estadística & datos numéricos , HumanosRESUMEN
Patients with temporal-lobe epilepsy (TLE) present with memory difficulties. The aim of the current study was to determine to what extent these difficulties could be related to a metamemory impairment. Fifteen patients with TLE and 15 matched healthy controls carried out a paired-associates learning task. Memory recall was measured at intervals of 30min and 4 weeks. We employed a combined Judgement-of-Learning (JOL) and Feeling-of-Knowing (FOK) task to investigate whether participants could monitor their memory successfully at both the item-by-item level and the global level. The results revealed a clear deficit of episodic memory in patients with epilepsy compared with controls, but metamemory in TLE patients was intact. Patients were able to monitor their memory successfully at the item-by-item level, and tended to be even more accurate than controls when making global judgements.