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- Acute ischemic stroke secondary to glioblastoma. A case reportPublication . Pina, S.; Carneiro, A.; Rodrigues, T.; Samões, R.; Taipa, R.; Melo-Pires, M.; Pereira, C.Glioblastoma is a malignant infiltrative glial tumor occurring most often over 50 years of age, with diverse clinical presentations. We describe a case of temporal lobe glioblastoma with a rare presentation as an acute ischemic stroke, discussing the imaging and histopathological findings, and reviewing the literature. A 77-year-old woman had sudden onset of left hemiparesis and hemihypoesthesia. The neuroradiological studies revealed an acute ischemic lesion in the right lenticulostriate arteries territory and a right anterior temporal lobe tumor, enhancing heterogeneously after contrast with enhancement of the right middle cerebral artery wall. Histopathological analysis of the resected temporal lesion revealed a glioblastoma multiforme with tumoral infiltration of the vascular wall. Glioblastoma should be considered in the etiology of acute ischemic stroke, where neuroimaging plays an important diagnostic role, enabling a more immediate therapeutic approach, with a consequent impact on survival.
- Association Between Iron-Related Protein Lipocalin 2 and Cognitive Impairment in Cerebrospinal Fluid and SerumPublication . das Neves, Sofia Pereira; Taipa, Ricardo; Marques, Fernanda; Soares Costa, Patrício; Monárrez-Espino, Joel; Palha, Joana A.; Kivipelto, MiiaA worldwide increase in longevity is bringing novel challenges to public health and health care professionals. Cognitive impairment in the elderly may compromise living conditions and precede Alzheimer's disease (AD), the most prevalent form of dementia. Therefore, finding molecular markers associated with cognitive impairment is of crucial importance. Lipocalin 2 (LCN2), an iron-related protein, has been suggested as a potential marker for mild cognitive impairment (MCI) and AD. This study aimed at investigating the association between LCN2 measured in serum and cerebrospinal fluid (CSF) with cognitive impairment. A cross-sectional design based on two aging cohorts was used: individuals diagnosed with subjective cognitive complaints (SCC), MCI, and AD from a Swedish memory clinic-based cohort, and individuals diagnosed with SCC and AD from a Portuguese cohort. Binary logistic [for the outcome cognitive impairment (MCI + AD) in the Swedish cohort and AD in the Portuguese cohort] and multinomial logistic (for the outcomes MCI and AD) regression analyses were used. No associations were found in both cohorts when controlling for sex, education, and age. This explanatory study suggests that the association between serum and CSF LCN2 concentrations with cognitive impairment reported in the literature must be further analyzed for confounders.
- Consenso Português para o Diagnóstico e Gestão Clínica da Demência com Corpos de Lewy (PORTUCALE)Publication . Monteiro, Ana; Velon, Ana Graça; Rodrigues, Ana Margarida; Oliveira, Ana; Valadas, Anabela; Nóbrega, Camila; Cruto, Catarina; Neutel, Dulce; Simões do Couto, Frederico; Morgado, Joana; Cerejeira, Joaquim; Ruano, Luís; Gago, Miguel; Grunho, Miguel; Tábuas-Pereira, Miguel; Taipa, Ricardo; Moiron Simões, Rita; Araújo, Rui; Barreto, Rui; Rocha, Sofia; Massano, JoãoLewy body dementia is a common cause of dementia leading to the progressive deterioration of cognitive function and motor skills, behavioral changes, and loss of autonomy, impairing the quality of life of patients and their families. Even though it is the second leading cause of neurodegenerative dementia, diagnosis is still challenging, due to its heterogenous clinical presentation, especially in the early stages of the disease. Accordingly, Lewy body dementia is often misdiagnosed and clinically mismanaged. The lack of diagnostic accuracy has important implications for patients, given their increased susceptibility to the adverse effects of certain drugs, such as antipsychotics, which may worsen some symptoms associated with Lewy body dementia. Therefore, a specialist consensus based on the analysis of the most updated and relevant literature, and on clinical experience, is useful to all professionals involved in the care of these patients. This work aims to inform and provide recommendations about the best diagnostic and therapeutic approaches in Lewy body dementia in Portugal. Moreover, we suggest some strategies in order to raise the awareness of physicians, policy makers, and the society at large regarding this disease.
- Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case SeriesPublication . Videira, Gonçalo; Malaquias, Maria João; LARANJINHA, INES; Martins, Ricardo; Taipa, Ricardo; Magalhães, MarinaIntroduction: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results: A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A,p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal-onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans. Discussion: AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.
- Differential early subcortical involvement in genetic FTD within the GENFI cohortPublication . Bocchetta, Martina; Todd, Emily G.; Peakman, Georgia; Cash, David M.; Convery, Rhian S.; Russell, Lucy L.; Thomas, David L.; Eugenio Iglesias, Juan; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Carmela Tartaglia, Maria; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonça, Alexandre; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Rohrer, Jonathan D.; Afonso, Sónia; Rosario Almeida, Maria; Anderl-Straub, Sarah; Andersson, Christin; Antonell, Anna; Archetti, Silvana; Arighi, Andrea; Balasa, Mircea; Barandiaran, Myriam; Bargalló, Nuria; Bartha, Robart; Bender, Benjamin; Benussi, Alberto; Bertoux, Maxime; Bertrand, Anne; Bessi, Valentina; Black, Sandra; Borrego-Ecija, Sergi; Bras, Jose; Brice, Alexis; Bruffaerts, Rose; Camuzat, Agnès; Cañada, Marta; Cantoni, Valentina; Caroppo, Paola; Castelo-Branco, Miguel; Colliot, Olivier; Cope, Thomas; Deramecourt, Vincent; de Arriba, María; Di Fede, Giuseppe; Díez, Alina; Duro, Diana; Fenoglio, Chiara; Ferrari, Camilla; Ferreira, Catarina B.; Fox, Nick; Freedman, Morris; Fumagalli, Giorgio; Funkiewiez, Aurélie; Gabilondo, Alazne; Gasparotti, Roberto; Gauthier, Serge; Gazzina, Stefano; Giaccone, Giorgio; Gorostidi, Ana; Greaves, Caroline; Guerreiro, Rita; Heller, Carolin; Hoegen, Tobias; Indakoetxea, Begoña; Jelic, Vesna; Karnath, Hans-Otto; Keren, Ron; Kuchcinski, Gregory; Langheinrich, Tobias; Lebouvier, Thibaud; João Leitão, Maria; Lladó, Albert; Lombardi, Gemma; Loosli, Sandra; Maruta, Carolina; Mead, Simon; Meeter, Lieke; Miltenberger, Gabriel; van Minkelen, Rick; Mitchell, Sara; Moore, Katrina; Nacmias, Benedetta; Nelson, Annabel; Nicholas, Jennifer; Öijerstedt, Linn; Olives, Jaume; Ourselin, Sebastien; Padovani, Alessandro; Panman, Jessica; Papma, Janne M.; Pijnenburg, Yolande; Polito, Cristina; Premi, Enrico; Prioni, Sara; Prix, Catharina; Rademakers, Rosa; Redaelli, Veronica; Rinaldi, Daisy; Rittman, Tim; Rogaeva, Ekaterina; Rollin, Adeline; Rosa-Neto, Pedro; Rossi, Giacomina; Rossor, Martin; Santiago, Beatriz; Saracino, Dario; Sayah, Sabrina; Scarpini, Elio; Schönecker, Sonja; Semler, Elisa; Shafei, Rachelle; Shoesmith, Christen; Swift, Imogen; Tábuas-Pereira, Miguel; Tainta, Mikel; Taipa, Ricardo; Tang-Wai, David; Thompson, Paul; Thonberg, Hakan; Timberlake, Carolyn; Tiraboschi, Pietro; Van Damme, Philip; Vandenbulcke, Mathieu; Veldsman, Michele; Verdelho, Ana; Villanua, Jorge; Warren, Jason; Wilke, Carlo; Woollacott, Ione; Wlasich, Elisabeth; Zetterberg, Henrik; Zulaica, MirenBackground: Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations have also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between genetic groups. Methods: 480 mutation carriers from the Genetic FTD Initiative (GENFI) were included (198 GRN, 202 C9orf72, 80 MAPT), together with 298 non-carrier cognitively normal controls. Cortical and subcortical volumes of interest were generated using automated parcellation methods on volumetric 3 T T1-weighted MRI scans. Mutation carriers were divided into three disease stages based on their global CDR® plus NACC FTLD score: asymptomatic (0), possibly or mildly symptomatic (0.5) and fully symptomatic (1 or more). Results: In all three groups, subcortical involvement was seen at the CDR 0.5 stage prior to phenoconversion, whereas in the C9orf72 and MAPT mutation carriers there was also involvement at the CDR 0 stage. In the C9orf72 expansion carriers the earliest volume changes were in thalamic subnuclei (particularly pulvinar and lateral geniculate, 9-10%) cerebellum (lobules VIIa-Crus II and VIIIb, 2-3%), hippocampus (particularly presubiculum and CA1, 2-3%), amygdala (all subregions, 2-6%) and hypothalamus (superior tuberal region, 1%). In MAPT mutation carriers changes were seen at CDR 0 in the hippocampus (subiculum, presubiculum and tail, 3-4%) and amygdala (accessory basal and superficial nuclei, 2-4%). GRN mutation carriers showed subcortical differences at CDR 0.5 in the presubiculum of the hippocampus (8%). Conclusions: C9orf72 expansion carriers show the earliest and most widespread changes including the thalamus, basal ganglia and medial temporal lobe. By investigating individual subregions, changes can also be seen at CDR 0 in MAPT mutation carriers within the limbic system. Our results suggest that subcortical brain volumes may be used as markers of neurodegeneration even prior to the onset of prodromal symptoms.
- Disease-related cortical thinning in presymptomatic granulin mutation carriersPublication . Borrego-Écija, Sergi; Sala-Llonch, Roser; van Swieten, John; Borroni, Barbara; Moreno, Fermín; Masellis, Mario; Tartaglia, Carmela; Graff, Caroline; Galimberti, Daniela; Laforce, Robert; Rowe, James B; Finger, Elizabeth; Vandenberghe, Rik; Tagliavini, Fabrizio; de Mendonça, Alexandre; Santana, Isabel; Synofzik, Matthis; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Gerhard, Alex; Otto, Markus; Butler, Chris; Frisoni, Giovanni; Sorbi, Sandro; Heller, Carolin; Bocchetta, Martina; Cash, David M; Convery, Rhian S; Moore, Katrina M; Rohrer, Jonathan D; Sanchez-Valle, Raquel; Rossor, Martin N.; Fox, Nick C.; Woollacott, Ione O.C.; Shafei, Rachelle; Greaves, Caroline; Neason, Mollie; Guerreiro, Rita; Bras, Jose; Thomas, David L.; Nicholas, Jennifer; Mead, Simon; Meeter, Lieke; Panman, Jessica; Papma, Janne; van Minkelen, Rick; Pijnenburg, Yolande; Indakoetxea, Begoña; Gabilondo, Alazne; TaintaMD, Mikel; de Arriba, Maria; Gorostidi, Ana; Zulaica, Miren; Villanua, Jorge; Diaz, Zigor; Olives, Jaume; Lladó, Albert; Balasa, Mircea; Antonell, Anna; Bargallo, Nuria; Premi, Enrico; Cosseddu, Maura; Gazzina, Stefano; Padovani, Alessandro; Gasparotti, Roberto; Archetti, Silvana; Black, Sandra; Mitchell, Sara; Rogaeva, Ekaterina; Freedman, Morris; Keren, Ron; Tang-Wai, David; Öijerstedt, Linn; Andersson, Christin; Jelic, Vesna; Thonberg, Hakan; Arighi, Andrea; Fenoglio, Chiara; Scarpini MD, Elio; Fumagalli, Giorgio; Cope, Thomas; Timberlake, Carolyn; Rittman, Timothy; Shoesmith, Christen; Bartha, Robart; Rademakers, Rosa; Wilke, Carlo; Bender, Benjamin; Bruffaerts, Rose; Vandamme, Philip; Vandenbulcke, Mathieu; Maruta, Carolina; Ferreira, Catarina B.; Miltenberger, Gabriel; Verdelho, Ana; Afonso, Sónia; Taipa, Ricardo; Caroppo, Paola; Di Fede, Giuseppe; Giaccone, Giorgio; Prioni, Sara; Redaelli, Veronica; Rossi, Giacomina; Tiraboschi, Pietro; Duro, Diana; Rosario Almeida, Maria; Castelo-Branco, Miguel; João Leitão, Maria; Tabuas-Pereira, Miguel; Santiago, Beatriz; Gauthier, Serge; Rosa-Neto, Pedro; Veldsman, Michele; Flanagan, Toby; Prix, Catharina; Hoegen, Tobias; Wlasich, Elisabeth; Loosli, Sandra; Schonecker, Sonja; Semler, Elisa; Anderl-Straub, SarahMutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an increased CTh loss associated with age and estimated proximity to symptoms onset in GRN carriers, even before the disease onset.
- Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin GenePublication . Gonçalves, A.; Oliveira, J.; Coelho, T.; Taipa, R.; Melo-Pires, M.; Sousa, M.; Santos, R.A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants. Bioinformatic, transcriptomic (real time PCR, RT-PCR), and genomic approaches (Southern blot, long-range PCR, and single molecule real-time sequencing) were used to characterize the mutation. An aberrant transcript was identified, containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene. This corresponded to the partial exonization of a long interspersed nuclear element (LINE-1), disrupting the open reading frame. Further characterization identified a complete LINE-1 (~6 kb with typical hallmarks) deeply inserted in intron 51. Haplotyping and segregation analysis demonstrated that the mutation had a de novo origin. Besides underscoring the importance of mRNA studies in genetically unsolved cases, this is the first report of a disease-causing fully intronic LINE-1 element in DMD, adding to the diversity of mutational events that give rise to D/BMD.
- Hansen Neuropathy: Still a Possible Diagnosis in the Investigation of a Peripheral NeuropathyPublication . Veiga, A.; Costa, A.; Taipa, Ri.; Guimarães, A.; Melo-Pires, M.INTRODUCTION: Leprosy is still one of the most frequent causes of peripheral neuropathy. Although regarded as eradicated in Portugal, is still documented in neuropathological study of patients with clinical peripheral neuropathy without proper diagnosis.
- Immune-mediated necrotizing myopathy associated with antibodies to the signal recognition particle: A rare cause of hyperCKaemiaPublication . Meireles, Elsa; Malheiro, Joana; Taipa, Ricardo; Alves, Manuela
- Leprosy presenting as remitting seronegative symmetrical synovitis with pitting oedema syndrome - a case reportPublication . Guerra, M.; Videira, T.; Morais, H.; Santos, T.; Taipa, Ricardo; Abreu, M.; Vieira; da Fonseca; Dos Santos; PintoBackground: Leprosy typically manifests with skin and peripheral nerve involvement. Musculoskeletal complaints are the third most common, and can be the sole presenting manifestation. They range from arthralgia/arthritis in reactional states to full mimics of systemic rheumatic diseases. Remitting Seronegative Symmetrical Synovitis with Pitting Oedema syndrome has only been described once in a patient with already diagnosed Leprosy. Case report: A 68-year-old male, from an endemic region of familial amyloid polyneuropathy, presented with an inaugural Remitting Seronegative Symmetrical Synovitis with Pitting Oedema like syndrome, more that 20 years after travelling to Leprosy endemic areas. Arthritis would resurface whenever oral prednisone was tapered, so methotrexate was started, controlling the complaints. Only one year later, after the appearance of peripheral neuropathy and skin lesions, it was possible to diagnose Leprosy, through the identification of Mycobacterium leprae bacilli in a peripheral nerve biopsy. Conclusion: This report is an example of the heterogeneity of manifestations of Leprosy, namely rheumatic, and the challenge of diagnosing it when typical complaints are absent. It is also a reminder that this disease should be considered whenever a patient with a combination of skin/neurologic/rheumatic complaints has travelled to endemic countries in the past.