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)
BACKGROUND This study aimed to correlate body mass index or biomarkers with the frequency of common adverse events (AEs) with subcutaneous IFN β-1a during treatment titration in patients with relapsing-remitting multiple sclerosis previously naïve to IFN β. METHODS Eighty-four patients (66.3% females) were followed up during 8 weeks, 25.3% were overweight(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)
Autoscopic phenomena are part of the reduplicative misidentification syndromes. These disorders may be a manifestation of both neurological and psychiatric conditions and consist of a double perception of the own body. These phenomena have been attributed to a dysfunction of the nondominant gyrus angularis. Two cases with this symptom are described. Case 1:(More)
Infliximab, a chimeric monoclonal antibody, is a TNF-a inhibitor approved for use in refractory rheumatoid arthritis and Crohn s disease. We present the case of a patient affected by severe rheumatoid arthritis who was successfully treated with infliximab. She suffered diverse neurological complications: brachial plexitis, asymptomatic thoracic myelitis(More)