Joana Damásio

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IMPORTANCE Progressive encephalomyelitis with rigidity and myoclonus is characterized by rigidity, painful muscle spasms, hyperekplexia, and brainstem signs. Recently, glycine receptor alpha 1 antibodies have been described in adult patients with progressive encephalomyelitis with rigidity and myoclonus. We describe a pediatric case. OBSERVATIONS A(More)
Frontotemporal lobar degeneration (FTLD) refers to a clinically, pathologically, and genetically heterogeneous group of dementias that arises from the degeneration of the frontal and temporal lobes. Mutations in the progranulin gene (GRN) are a major cause of FTLD with TDP-43 inclusions. Herein, we describe the clinical, neuropathological, and genetic(More)
BACKGROUND Parkinsonism in patients with multiple sclerosis is rare. Some patients have 2 coincidental diseases, whereas others have a Parkinsonian syndrome symptomatic to demyelinating lesions. CASE REPORT We describe a 42-year-old female patient who developed left akinetic-rigid Parkinsonian syndrome at the age of 38 years. Brain magnetic resonance(More)
OBJECTIVE To document and discuss the broad phenotypic variability in a Portuguese family with cerebellar ataxia, hemiplegic migraine, and related syndromes caused by missense mutation c.1748 (p.R583Q) in the CACNA1A gene. DESIGN Observational 12-year follow-up study. SETTING Community and hospital care. PATIENTS Sixteen patients in a 4-generation(More)
INTRODUCTION A possible association between olfactory dysfunction and Parkinson's disease (PD) severity has been a topic of contention for the past 40 years. Conflicting reports may be partially explained by procedural differences in olfactory assessment and motor symptom evaluation. METHODS One hundred and sixty-six nondemented PD patients performed the(More)
Regular physical activity decreases vascular risk. However, vascular events, including stroke, can occur while practicing physical activities. Stroke associated with sports is a rare clinical entity, whose risk factors and mechanisms are not fully understood. We report a case series of sports-related stroke, from tertiary care institutions. From the stroke(More)
BACKGROUND The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM). CASE PRESENTATIONS We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points.(More)
BACKGROUND Vanishing white matter is an inherited leukoencephalopathy with typical childhood onset. Late onset forms are rare and may present with an extended range of phenotypes. Case report We present a patient born to consanguineous parents who developed learning disabilities by the age of 16 years. At the age of 25 she had a focal motor seizure with(More)