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1.
J Alzheimers Dis ; 72(3): 677-681, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31640101

RESUMO

Hereditary cerebral amyloid angiopathies (CAA) are rare disorders of early onset and severe course. We describe a 47-year-old patient with Iowa-type amyloid precursor protein (APP) mutation-related hereditary CAA that manifested with concomitant lobar hemorrhage and venous sinus thrombosis. To analyze the cerebral amyloid-ß burden, an amyloid-PET was performed, demonstrating low cortical retention except for the calcarine cortex. High amyloid retention was also found in the thalamus and pallidum. The co-occurrence of CAA and venous thrombosis has not been previously reported in Iowa CAA and its mechanism is yet to be elucidated. Low cortical florbetapir-PET uptake does not rule out CAA in young patients, who may benefit from genetic testing to reach diagnosis when suspicion is strong.

4.
Mol Neurobiol ; 55(12): 8815-8825, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29603091

RESUMO

Platelets are considered a good model system to study a number of elements associated with neuronal pathways as they share biochemical similarities. Platelets represent the major source of amyloid-ß (Aß) in blood contributing to the Aß accumulation in the brain parenchyma and vasculature. Peripheral blood platelet alterations including cytoskeletal abnormalities, abnormal cytoplasmic calcium fluxes or increased oxidative stress levels have been related to Alzheimer's disease (AD) pathology. Therefore, platelets can be considered a peripheral model to study metabolic mechanisms occurring in AD. To investigate peripheral molecular alterations, we examined platelet protein expression in a cohort of 164 subjects, including mild cognitive impairment (MCI), and AD patients, and healthy aged-matched controls. A two-dimensional difference gel electrophoresis (2D-DIGE) discovery phase revealed significant differences between patients and controls in five proteins: talin, vinculin, moesin, complement C3b and Rho GDP, which are known to be involved in cytoskeletal regulation including focal adhesions, inflammation and immune functions. Western blot analysis verified that talin was found to be increased in mild and moderate AD groups versus control, while the other three were found to be decreased. We also analysed amyloid precursor protein (APP), amyloid-ß 1-40 (Aß40) and 1-42 (Aß42) levels in platelets from the same groups of subjects. Upregulation of platelet APP and Aß peptides was found in AD patients compared to controls. These findings complement and expand previous reports concerning the morphological and functional alterations in AD platelets, and provide more insights into possible mechanisms that participate in the multifactorial and systemic damage in AD.


Assuntos
Doença de Alzheimer/sangue , Doença de Alzheimer/imunologia , Plaquetas/metabolismo , Citoesqueleto/metabolismo , Proteômica/métodos , Idoso , Peptídeos beta-Amiloides/sangue , Estudos de Casos e Controles , Disfunção Cognitiva/sangue , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes
5.
J Neurol ; 264(1): 121-130, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27815682

RESUMO

Primary progressive aphasia (PPA) is considered a heterogeneous syndrome, with different clinical subtypes and neuropathological causes. Novel PET biomarkers may help to predict the underlying neuropathology, but many aspects remain unclear. We studied the relationship between amyloid PET and PPA variant in a clinical series of PPA patients. A systematic review of the literature was performed. Patients with PPA were assessed over a 2-year period and classified based on language testing and the International Consensus Criteria as non-fluent/agrammatic (nfvPPA), semantic (svPPA), logopenic variant (lvPPA) or as unclassifiable (ucPPA). All patients underwent a Florbetapir (18-F) PET scan and images were analysed by two nuclear medicine physicians, using a previously validated reading method. Relevant studies published between January 2004 and January 2016 were identified by searching Medline and Web of Science databases. Twenty-four PPA patients were included (13 women, mean age 68.8, SD 8.3 years; range 54-83). Overall, 13/24 were amyloid positive: 0/2 (0%) nfvPPA, 0/4 (0%) svPPA, 10/14 (71.4%) lvPPA and 3/4 (75%) ucPPA (p = 0.028). The systematic review identified seven relevant studies, six including all PPA variants and one only lvPPA. Pooling all studies together, amyloid PET positivity was 122/224 (54.5%) for PPA, 14/52 (26.9%) for nfvPPA, 6/47 (12.8%) for svPPA, 101/119 for lvPPA (84.9%) and 12/22 (54.5%) for ucPPA. Amyloid PET may help to identify the underlying neuropathology in PPA. It could be especially useful in ucPPA, because in these cases it is more difficult to predict pathology. ucPPA is frequently associated with amyloid pathology.


Assuntos
Amiloide/metabolismo , Afasia Primária Progressiva/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Idoso , Afasia Primária Progressiva/metabolismo , Afasia Primária Progressiva/psicologia , Encéfalo/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
6.
Neuroepidemiology ; 47(1): 32-7, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27398595

RESUMO

BACKGROUND: To assess the diagnostic agreement of cognitive status (dementia, mild cognitive impairment (MCI), normal cognition) among neurologists in the field of neurological disorders in Central Spain 2 study. METHODS: Full medical histories of 30 individuals were provided to 27 neurologists: 9 seniors, 10 juniors and 8 residents. For each case, we were asked to assign a diagnosis of dementia, MCI or normal cognition using the National Institute on Aging-Alzheimer's Association workgroup (NIA-AA) core clinical criteria for all-cause dementia, Winblad et al. criteria for MCI, and analyze intensity and etiology if dementia was diagnosed. Inter-rater agreement was assessed both with percent concordance and non-weighted κ statistics. RESULTS: Overall inter-rater agreement on cognitive status was κ = 0.76 (95% CI 0.65-0.86), being slightly higher among junior neurologists (κ = 0.85, 95% CI 0.73-0.95) than among seniors (κ = 0.71, 95% CI 0.59-0.83) and residents (κ = 0.69, 95% CI 0.54-0.81) but without statistical significance among groups. Dementia severity showed an overall κ of 0.34, 0.44 and 0.64 for mild, moderate and severe dementia respectively. CONCLUSIONS: Substantial agreement was demonstrated for the diagnosis of cognitive status (dementia, MCI and normal cognition) among neurologists of different levels of experience in a population-based epidemiological study using NIA-AA and Winblad et al. CRITERIA: The agreement rate was lower in the diagnosis of dementia severity.


Assuntos
Disfunção Cognitiva/diagnóstico , Demência/diagnóstico , Variações Dependentes do Observador , Humanos , Neurologistas , Reprodutibilidade dos Testes , Espanha
7.
Rev. neurol. (Ed. impr.) ; 57(12): 542-548, 16 dic., 2013. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-127947

RESUMO

Introducción. La enfermedad de Alzheimer (EA) es la causa más frecuente de demencia en nuestro medio. En la mayoría de los pacientes, las manifestaciones iniciales consisten en una afectación selectiva y progresiva de la memoria. Sin embargo, no se trata de un proceso homogéneo y, en algunos casos, el modo de presentación puede ser atípico. La presentación de la EA en forma de alteración precoz de la personalidad, el comportamiento y las funciones ejecutivas se ha denominadovariante frontal de la EA. En nuestro caso, su diagnóstico definitivo sólo fue posible mediante el estudio histológico, pues los criterios clínicos vigentes resultaron entonces insuficientes para el diagnóstico de esta forma atípica de la EA. Casos clínicos. Dos pacientes, una mujer y un hombre de 60 y 52 años respectivamente, presentaron un cuadro progresivo de deterioro cognitivo con afectación inicial de las funciones ejecutivas y cambio de personalidad, junto con alteraciones del estado de ánimo, por lo que se realizó el diagnóstico inicial de probable demencia frontotemporal. No obstante, en ambos casos, la autopsia reveló datos compatibles con el diagnóstico de EA, con una distribución de la patología que afectaba fundamentalmente a los lóbulos frontales. Conclusiones. La EA tiene una forma heterogénea de presentación, lo que puede originar errores en su diagnóstico inicial, dado que los criterios clínicos actuales no recogen de modo suficiente esta variabilidad clínica. Por ello, consideramos importante prestar atención a las formas atípicas de la EA con el objeto de desarrollar nuevos métodos diagnósticos que permitan diferenciar la EA del resto de procesos degenerativos (AU)


Introduction. Alzheimer’s disease (AD) is the most frequent degenerative dementia in our setting. In most patients the initial manifestations of the disease consist in a selective and progressive compromise of memory. Yet, it is not a homogeneous process and in some cases the mode of presentation can be atypical. The presentation of AD in the form of anearly disorder affecting personality, behaviour and the executive functions has been called the frontal variant of AD. In our case, its definitive diagnosis was only possible by means of a histological analysis, given the fact that the applicable clinical criteria were then insufficient to reach a diagnosis of this atypical form of AD. Case reports. We report the cases of two patients, one female and one male aged 60 and 52 respectively, who presented a progressive picture of cognitive impairment with initial involvement of the executive functions and personality changes, together with mood disorders. As a result, the initial diagnosis was one of probable frontotemporal dementia. However, in both cases, the autopsy revealed data consistent with a diagnosis of AD, with a distribution of the pathology that essentially affected the frontal lobes. Conclusions. AD has a heterogeneous form of presentation, which can give rise to errors in its initial diagnosis, since current clinical criteria do not take this clinical variability sufficiently into account. We therefore consider it important to pay attention to the atypical forms of AD with the aim of developing new diagnostic methods that allow AD to be distinguished from other degenerative processes (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Doença de Alzheimer/classificação , Lobo Frontal/fisiopatologia , Demência Frontotemporal/diagnóstico , Transtornos Cognitivos/diagnóstico , Função Executiva , Transtornos da Personalidade/diagnóstico
8.
Rev Neurol ; 57(12): 542-8, 2013 Dec 16.
Artigo em Espanhol | MEDLINE | ID: mdl-24288103

RESUMO

INTRODUCTION: Alzheimer's disease (AD) is the most frequent degenerative dementia in our setting. In most patients the initial manifestations of the disease consist in a selective and progressive compromise of memory. Yet, it is not a homogeneous process and in some cases the mode of presentation can be atypical. The presentation of AD in the form of an early disorder affecting personality, behaviour and the executive functions has been called the frontal variant of AD. In our case, its definitive diagnosis was only possible by means of a histological analysis, given the fact that the applicable clinical criteria were then insufficient to reach a diagnosis of this atypical form of AD. CASE REPORTS: We report the cases of two patients, one female and one male aged 60 and 52 respectively, who presented a progressive picture of cognitive impairment with initial involvement of the executive functions and personality changes, together with mood disorders. As a result, the initial diagnosis was one of probable frontotemporal dementia. However, in both cases, the autopsy revealed data consistent with a diagnosis of AD, with a distribution of the pathology that essentially affected the frontal lobes. CONCLUSIONS: AD has a heterogeneous form of presentation, which can give rise to errors in its initial diagnosis, since current clinical criteria do not take this clinical variability sufficiently into account. We therefore consider it important to pay attention to the atypical forms of AD with the aim of developing new diagnostic methods that allow AD to be distinguished from other degenerative processes.


Assuntos
Doença de Alzheimer/patologia , Lobo Frontal/fisiopatologia , Atividades Cotidianas , Transtornos de Adaptação/diagnóstico , Doença de Alzheimer/classificação , Doença de Alzheimer/complicações , Doença de Alzheimer/diagnóstico , Ansiedade/etiologia , Afasia/etiologia , Depressão/etiologia , Diagnóstico Diferencial , Progressão da Doença , Função Executiva , Feminino , Lobo Frontal/química , Lobo Frontal/diagnóstico por imagem , Lobo Frontal/patologia , Demência Frontotemporal/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Neuroimagem , Cintilografia , Avaliação de Sintomas
9.
Rev Neurol ; 56(2): 109-14, 2013 Jan 16.
Artigo em Espanhol | MEDLINE | ID: mdl-23307357

RESUMO

Nikola Tesla (1856-1943) was one of the greatest inventors in history and a key player in the revolution that led to the large-scale use of electricity. He also made important contributions to such diverse fields as x-rays, remote control, radio, the theory of consciousness or electromagnetism. In his honour, the international unit of magnetic induction was named after him. Yet, his fame is scarce in comparison with that of other inventors of the time, such as Edison, with whom he had several heated arguments. He was a rather odd, reserved person who lived for his inventions, the ideas for which came to him in moments of inspiration. In his autobiography he relates these flashes with a number of neuropsychiatric manifestations, which can be seen to include migraine auras, synaesthesiae, obsessions and compulsions.


Assuntos
Eletricidade/história , Criatividade , História do Século XIX , História do Século XX , Transtorno Obsessivo-Compulsivo , Sérvia
10.
Rev. neurol. (Ed. impr.) ; 56(2): 109-114, 16 ene., 2013. ilus
Artigo em Espanhol | IBECS | ID: ibc-109368

RESUMO

Nikola Tesla (1856-1943) fue uno de los principales inventores de la historia, hombre clave en la revolución que supuso el empleo de la electricidad a gran escala. Realizó también aportaciones en campos tan diversos como los rayos X, el control remoto, la radio, la teoría de la conciencia o el electromagnetismo. Como homenaje, la unidad internacional de inducción magnética recibió su nombre. Sin embargo, su fama es escasa en comparación con la de otros inventores de la época, como Edison, con quien sostuvo enconadas disputas. Persona peculiar y huraña, vivía para unos inventos que concebía a base de momentos de inspiración, que relaciona en su autobiografía con diversas manifestaciones neuropsiquiátricas, entre las que se pueden reconocer auras migrañosas, sinestesias, obsesiones y compulsiones (AU)


Nikola Tesla (1856-1943) was one of the greatest inventors in history and a key player in the revolution that led to the large-scale use of electricity. He also made important contributions to such diverse fields as x-rays, remote control, radio, the theory of consciousness or electromagnetism. In his honour, the international unit of magnetic induction was named after him. Yet, his fame is scarce in comparison with that of other inventors of the time, such as Edison, with whom he had several heated arguments. He was a rather odd, reserved person who lived for his inventions, the ideas for which came to him in moments of inspiration. In his autobiography he relates these flashes with a number of neuropsychiatric manifestations, which can be seen to include migraine auras, synaesthesiae, obsessions and compulsions (AU)


Assuntos
Humanos , Masculino , História do Século XVIII , História do Século XIX , Raios X , Eletricidade/história , Enxaqueca com Aura/história , Enxaqueca com Aura/terapia , Neurologia/história , Neurologia , Física/história , Radiografia/história , /história , Prêmio Nobel , Tecnologia Radiológica/história , Neuropsiquiatria/história
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