RESUMO
Some studies have suggested an overlap of clinical and genetic findings between essential tremor (ET) and Parkinson's disease (PD). The first genome-wide association study in ET showed a significant association with the rs9652490 SNP of the leucine-rich repeat and Ig domain containing 1 (LINGO1) gene. Since patients with PD have higher LINGO1 expression levels compared to healthy controls, and animal models of PD show elevated LINGO1 protein levels after experimentally induced damage in the striatum, it can be inferred that LINGO1 is probably involved in PD pathophysiology. In this study, we performed a genetic association analysis of the rs9652490 and rs11856808 SNPs in Italian PD patients and controls to assess the role of these variants in our population. A total of 567 patients with PD and 468 control subjects were enrolled in five Movement Disorder centers located in Central-Southern Italy. Both variants were significantly associated with PD under a recessive model of inheritance before applying the Bonferroni correction. The GG genotype of rs9652490 and the TT genotype of rs11856808 were less frequent in patients than in controls, suggesting a protective effect against the disease. However, after stringent correction, only the P-values obtained from allele and genotype comparisons of the rs11856808 SNP remained significant. Our findings suggest that LINGO1 plays a certain role in the development of PD in the Italian population and represents an interesting candidate gene responsible for PD, due to its involvement in neurological processes.
Assuntos
Estudo de Associação Genômica Ampla/métodos , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Doença de Parkinson/genética , Idoso , Estudos de Coortes , Feminino , Humanos , Itália/epidemiologia , Itália/etnologia , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/epidemiologia , Doença de Parkinson/etnologia , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
Platypnea-orthodeoxia is a rare syndrome characterized by dyspnea and deoxygenation induced by a change to a sitting or standing from a recumbent position. It is the result of posturally accentuated intracardiac or pulmonary right-to-left shunt leading to arterial oxygen desaturation. Only few cases of platypnea-orthodeoxia syndrome are reported in the literature and the association between stroke and platypnea-orthodeoxia syndrome with evidence of patent foramen ovale is extremely rare. We describe the case of a 67-year-old female admitted to our Rehabilitation Unit for disabling basilar stroke due to paradoxical embolism from patent foramen ovale that during the first days of rehabilitation showed signs and symptoms of platypnea-orthodeoxia syndrome. To remove a life-threatening condition for the patient and in order to develop the normal rehabilitation project, that was stopped by the platypnea-orthodeoxia syndrome, the patient fastly underwent to percutaneous closure of patent foramen ovale. The stabilization of oxygen arterial saturation with postural changes and the disappearance of symptoms of POS allowed to develop the rehabilitation project with progressive neurological improvement.
Assuntos
Dispneia Paroxística/reabilitação , Forame Oval Patente/complicações , Forame Oval Patente/reabilitação , Reabilitação do Acidente Vascular Cerebral , Insuficiência Vertebrobasilar/etiologia , Insuficiência Vertebrobasilar/reabilitação , Idoso , Dispneia Paroxística/etiologia , Feminino , Forame Oval Patente/cirurgia , Humanos , Hipóxia/etiologia , Hipóxia/reabilitação , Acidente Vascular Cerebral/etiologia , Resultado do TratamentoAssuntos
Artéria Basilar/diagnóstico por imagem , Forame Oval Patente/diagnóstico por imagem , Artéria Cerebral Média/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana , Artéria Vertebral/diagnóstico por imagem , Adulto , Idoso , Artéria Basilar/fisiopatologia , Circulação Cerebrovascular , Feminino , Artéria Femoral/diagnóstico por imagem , Artéria Femoral/fisiopatologia , Forame Oval Patente/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Artéria Cerebral Média/fisiopatologia , Fluxo Sanguíneo Regional , Artéria Vertebral/fisiopatologiaRESUMO
No disponible
Assuntos
Humanos , Enxaqueca com Aura/complicações , Permeabilidade do Canal Arterial/complicaçõesAssuntos
Dissecação da Artéria Carótida Interna/complicações , Hemocromatose/complicações , Hemocromatose/genética , Dissecação da Artéria Carótida Interna/diagnóstico , Dissecação da Artéria Carótida Interna/genética , Cisteína/genética , Hemocromatose/diagnóstico , Proteína da Hemocromatose , Antígenos de Histocompatibilidade Classe I/genética , Humanos , Ferro/sangue , Angiografia por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/métodos , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Mutação , Tirosina/genéticaRESUMO
Several investigations have documented an increased incidence of right-to-left shunt (RLS) in migraine with aura (MA) and have emphasised its role in the physiopathology of aura; so far, however, no data are available concerning a possible correlation between the extent of the RLS and the clinical picture of MA patients. To investigate the possible relationship between the extent of the RLS, revealed by the number of microbubbles (MB) detected during transcranial Doppler with IV injection of ultrasound contrast (TCDc), and the clinical characteristics of MA (age at first onset of migraine, mean annual frequency of attacks and mean duration of the aura phase), 30 consecutive patients with typical aura and migraine headache positive on TCDc evaluation for RLS were enrolled. Permanent RLS was found in 12 patients and latent RLS was found in 18 patients; of these, 6 had a high-grade RLS, 5 medium-grade RLS and 7 low-grade RLS. No correlation has been documented between the number of MBs and the clinical parameters of both patients with latent shunts and those with permanent ones, nor between the clinical parameters of the two groups of patients. These data show that RLS does not seem to affect the clinical manifestation of MA and that the extent of RLS fails to correlate with the severity of the clinical picture of the disorder.
Assuntos
Artérias Cerebrais/fisiopatologia , Átrios do Coração/fisiopatologia , Comunicação Interatrial/complicações , Enxaqueca com Aura/etiologia , Adulto , Fatores Etários , Causalidade , Artérias Cerebrais/diagnóstico por imagem , Artérias Cerebrais/patologia , Progressão da Doença , Feminino , Lateralidade Funcional/fisiologia , Átrios do Coração/patologia , Comunicação Interatrial/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Enxaqueca com Aura/diagnóstico por imagem , Enxaqueca com Aura/fisiopatologia , Ultrassonografia Doppler TranscranianaAssuntos
Endometriose/complicações , Pupila/fisiologia , Pupila Tônica/imunologia , Adulto , Anisocoria/diagnóstico , Anisocoria/imunologia , Anisocoria/fisiopatologia , Autoanticorpos/imunologia , Endometriose/diagnóstico , Endometriose/fisiopatologia , Feminino , Humanos , Iris/inervação , Iris/fisiopatologia , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/cirurgia , Síndromes Paraneoplásicas/diagnóstico , Síndromes Paraneoplásicas/imunologia , Síndromes Paraneoplásicas/fisiopatologia , Progesterona/uso terapêutico , Tomografia Computadorizada por Raios X , Pupila Tônica/diagnóstico , Pupila Tônica/fisiopatologia , Resultado do TratamentoRESUMO
We report the case of a young patient suffering from a severe ischaemic stroke due to basilar artery occlusion occurring during selective digital subtraction angiography. This examination was performed in order to assess an arteriovenous malformation in posterior cerebral artery territory responsible for haemorrhagic stroke occurring 17 days before. Intra-arterial thrombolysis with urokinase was performed and basilar artery recanalization was obtained 8 h after stroke onset. Despite the severe neurological impairment, the prolonged symptoms of ischaemia and the high bleeding risk due to the recent cerebral haemorrhage in the same vascular territory involved in thrombolysis, the treatment determined a very favourable clinical outcome.