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 CACNA1A gene disorders present a variable familial phenotype of ataxia, migraine with aura, and/or hemiplegic migraine. Prevalence data for these conditions are scarce. OBJECTIVE The aim of this study is to report a minimal prevalence estimate for familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.(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)
Progressive multifocal leukoencephalopathy (PML) is a rare opportunistic infection caused by the reactivation of JC virus and occurs in patients with severe primary or secondary immunosuppression. Recently, PML is becoming relevant in autoimmune disorders, particularly in patients treated with biologic agents. However, systemic lupus erythematosus (SLE)(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 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)
BACKGROUND The co-occurrence of tics and dystonia as an idiopathic condition has only rarely been reported. We report a series of patients with tics and persistent dystonia, with the aim of determining the prevalence and clinical characteristics of this syndrome. METHODS Analysis of clinical database of patients with tic disorders. RESULTS From our(More)