Dolores Dapena

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Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte(More)
Desminopathies represent a subtype of myofibrillar myopathy caused by mutations in the DES gene, which cause myofibril disruption and intracellular inclusions containing desmin and other protein components. Desminopathy mainly involves skeletal and cardiac muscle, separately or together. Both autosomal dominant and autosomal recessive inheritance have been(More)
INTRODUCTION The relationship between hepatitis B virus and hepatitis B vaccine with central nervous system demyelinating diseases is controversial. CASE REPORTS We describe two male patients, who in their 70's developed recurrent pictures of acute demyelinating diseases. The first one had recurrent acute disseminated encephalomyelitis (diplopia,(More)
A 40 year-old woman with subacute headache and visual impairment was admitted. Neurological examination revealed meningismus, diminished visual acuity, bilateral sixth cranial nerve palsy, and papillary edema. Dermatologic examination was normal. The brain CT scan showed hydrocephalus and hyperdense edging around fissures and sulci. The CSF study showed an(More)
INTRODUCTION Calcification of the dentate nucleus of the cerebellum may be seen on cerebral CT in 0.3-0.5% of patients with no symptoms or extra-pyramidal signs. Although there are many causes, some cases show a family incidence. Clinical cases. We present two cases, mother and son, in whom the predominant clinical findings were poor language and a(More)
The brainstem is an uncommon site of a brain abscess. Such lesions, which were invariably fatal, changed with the arrival of computed tomography and magnetic resonance imaging (MRI). These not only helped in the diagnosis but also in treatment management. A 51-year old patient was diagnosed of widespread pontomesencephalic abscess. He was admitted with a(More)
INTRODUCTION Pentoxifylline (PTX) is a phosphodiesterase inhibitor which has been found in studies in vitro to inhibit the production of Th-1 cytokines. It has been postulated that it might be used as a possible coadjuvant treatment for interferon in patients with multiple sclerosis. This would also reduce the potential side effects of interferon.(More)