Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jan 2014
Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.
Duchenne and Becker muscular dystrophy (DMD/BMD) are both caused by mutations in the DMD gene. Out-of-frame mutations in DMD lead to absence of the dystrophin protein, while in-frame BMD mutations cause production of internally deleted dystrophin. Clinically, patients with DMD loose ambulance around the age of 12, need ventilatory support at their late teens and die in their third or fourth decade due to pulmonary or cardiac failure. BMD has a more variable disease course. The disease course of patients with BMD with specific mutations could be very informative to predict the outcome of the exon-skipping therapy, aiming to restore the reading-frame in patients with DMD. ⋯ This study provides mutation specific data on the course of disease in patients with BMD. It shows that the disease course of patients with BMD, with a mutation equalling a 'skipped' DMD mutation is relatively mild. This finding strongly supports the potential benefit of exon skipping in patients with DMD.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2014
Posterior cingulate epilepsy: clinical and neurophysiological analysis.
Posterior cingulate epilepsy (PCE) is misleading because the seizure onset is located in an anatomically deep and semiologically silent area. This type of epilepsy is rare and has not been well described yet. Knowledge of the characteristics of PCE is important for the interpretation of presurgical evaluation and better surgical strategy. The purpose of this study was to better characterise the clinical and neurophysiological features of PCE. ⋯ This study revealed that the network from the posterior cingulate gyrus and the semiology of PCE (motor manifestation vs dialeptic/automotor seizure) varies depending upon the seizure spread patterns.