NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.

Background: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6).

[Evaluation of hemodynamic parameters by transcranial Doppler in patients with leukoaraiosis].

Introduction: Leukoaraiosis is commonly found in neuroimaging in ancient people. The pathogenic theory that most suitably explains its origin is the vascular one, mainly linked to cerebral hemodynamic abnormalities. The techniques most frequently used in cerebral hemodynamic evaluation (PET and SPECT) are expensive and not widespread.

[Gabapentin in 50 patients with epilepsy].

Objective: To evaluate monotherapy treatment with the anticonvulsant drug gabapentin, its efficacy and tolerability when used in patients with partial and secondary generalized partial epileptic seizures of recent onset who had not received treatment or who, in spite of treatment with other antiepileptic drugs failed to attain control over their seizures.

Patients And Methods: We made an open prospective study of 50 patients diagnosed as having partial and secondarily generalized partial epileptic seizures. The patients were given treatment at their first visit and them regularly followed up for two years.

[Sporadic familial meningiomas].

Introduction: Meningiomas are primary tumours of the central nervous system. Usually they are sporadic. The occurrence in more than one member of a family is unusual.