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). METHODS: We have performed a mutational screening of the mitochondrial DNA gene encoding for this protein in 62 patients with the disease, that do not carry any of the common mutations described to date. RESULTS: We report clinical and molecular data in one patient who harbours a de novo insertion in the MT-ATP6 gene that results in a truncated subunit. The mutation was heteroplasmic (85%) in muscle DNA and the BN-PAGE analysis showed a clear decrease in the amount of ATP synthase. CONCLUSION: Molecular analysis of NARP patients cannot be limited to the search of the m.8993T>G/C and either the ATP6 or the whole mtDNA should be sequenced.

[Evaluation of hemodynamic parameters by transcranial Doppler in patients with leukoaraiosis]. / Estudio de los parámetros hemodinámicos en pacientes con leucoaraiosis mediante Doppler transcraneal.

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. Transcranial Doppler instead is cheaper and much more widespread. OBJECTIVE: Our aim has been to show whether transcranial Doppler is a useful tool for cerebral hemodynamic evaluation in leukoaraiosis. PATIENTS AND METHODS: We have prospectively included 116 patients aged 60-90 who came to the Neurology department with unspecific complaints such as dizziness or mild headache. Patients with recent history of stroke or moderate to severe cognitive impairment were excluded. RESULTS: Mean age was 74.4 +/- 6.3 years old. The prevalence of leukoaraiosis was 68.7%. Leukoaraiosis was significantly correlated with older age, lacunar infarctions, past history of stroke, cognitive impairment and to lower systolic and diastolic velocities in middle cerebral artery (MCA) and higher pulsatility index. Multivariate analysis only retained the lower diastolic velocity in MCA in the model. CONCLUSIONS: Transcranial Doppler can detect hemodynamic abnormalities in patients with leukoaraiosis and is therefore a very useful technique for the evaluation of this entity.

[Gabapentin in 50 patients with epilepsy]. / Gabapentina en 50 pacientes con epilepsia.

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. Treatment was given progressively until a maintenance dose of 1.200 mg/day was reached, and the dose them adjusted individually. RESULTS: We included 50 patients in the study; 78% were treated with gabapentin. Ten percent stopped this treatment because it was ineffective. All the patients who continued their treatment with gabapentin had their seizures reduced by over 50%. This reduction in the number of seizures is statistically significant (p < 0.05) for patients with partial and secondarily generalized partial seizures. Twelve percent of the group of patients stopped their treatment because of side-effects. CONCLUSIONS: When the results of our study are evaluated and compared with those published in the literature, it may be seen that gabapentin is a safe, effective drug which is well tolerated when used as monotherapy for the treatment of patients with partial seizures.

[Sporadic familial meningiomas]. / Meningiomas familiares esporádicos.

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. Up till now this coincidence had been related with type 2 neurofibromatosis. In this paper we comment on two siblings who did not fulfil neurofibromatosis diagnostic criteria as an example of sporadic familial meningiomas. CLINICAL CASES: Two siblings (a 79 years old female and a 77 years old male) were diagnosed of a meningioma in an interval of two years, with surprising clinical and neuroimaging similarities. In sporadic meningiomas, abnormalities in the long arm of chromosome 22 have been found. Type 2 neurofibromatosis causative gene has also been found in this chromosome. Meningiomas are quite often found in this entity, and therefore, this gene was implicated as a main factor in the genesis of an important number of meningiomas. However, several studies have not found an association between these tumours and the locus for neurofibromatosis, leading to think that there may be other genes that may influence on meningiomas development.

Meningiomas familiares esporádicos / Sporadic familial meningiomas

Introducción. Los meningiomas son tumores primarios del sistema nervioso central que suelen ser esporádicos. La aparición de meningiomas en más de un miembro de la familia es atípica. Los casos de meningiomas familiares simples o múltiples se han relacionado hasta ahora con la neurofibromatosis tipo 2.En este artículo presentamos el caso de dos hermanos sin criterios diagnósticos de neurofibromatosis, que formarían parte de los denominados meningiomas familiares esporádicos. Casos clínicos. Presentamos el caso de dos hermanos (mujer de 79 años y varón de 77 años) que en el intervalo de dos años son diagnosticados de sendos tumores cerebrales en forma de meningioma, presentando ambos características clínicas y alteraciones en la neuroimagen sorprendentemente semejantes. Los meningiomas esporádicos suelen presentar alteraciones genéticas a nivel del brazo largo del cromosoma 22.En este cromosoma se ha identificado el gen que causa la neurofibromatosis tipo 2, proceso en el que es frecuente la aparición de meningiomas, por lo que se propuso al gen de esta enfermedad como factor crucial en la génesis de un número importante de meningiomas. Sin embargo, diversos estudios realizados sobre meningiomas familiares esporádicos han determinado que estos tumores no están ligados al locus de la neurofibromatosis, lo que refuerza la hipótesis de que existen otros genes que influirían en el desarrollo de los meningiomas (AU)