RESUMO
SARS-CoV-2 infection can associate diverse neurological manifestations. Several studies have provided proof to support the theory of neurotropic involvement of SARS-CoV-2. Alpha-synuclein has been described as a native antiviral factor within neurons, and upregulation of this protein can be seen in animals that suffered other neuroinvasive infections. To assess if increased expression of this protein takes place in COVID-19 patients with neurological symptoms, we analyzed serum total alpha-synuclein levels in three groups: seven COVID-19 patients with myoclonus, Parkinsonism and/or encephalopathy; thirteen age- and sex-matched COVID-19 patients without neurological involvement and eight age- and sex-matched healthy controls. We did not find differences among them. In a subset of four patients, the change in serum alpha-synuclein before and after the onset of neurological symptoms was not significant either. Cerebrospinal fluid alpha-synuclein levels were also similar between neurological COVID-19 and healthy controls. Overall, these results cannot support the hypothesis of alpha-synuclein upregulation in humans with neurological symptoms in COVID-19. Further research taking into account a larger group of COVID-19 patients including the whole spectrum of neurological manifestations and disease severity is needed.
Assuntos
Encefalopatias , COVID-19 , Animais , Humanos , Neurônios , SARS-CoV-2 , alfa-SinucleínaRESUMO
Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome included in the frontotemporal dementia (FTD) spectrum. Unlike other forms of FTD, it is sporadic in the majority of cases and not commonly associated with motor neuron disease (MND). We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature.
Assuntos
Afasia Primária Progressiva/genética , Afasia Primária Progressiva/fisiopatologia , Proteínas de Ligação a DNA/genética , Afasia Primária Progressiva/diagnóstico por imagem , Feminino , Humanos , Pessoa de Meia-Idade , Doença dos Neurônios Motores/genética , Mutação , Linhagem , SemânticaRESUMO
AIM OF THE STUDY: Spinocerebellar ataxia type 3 is the most common cause of autosomal dominant inherited ataxia worldwide. MATERIAL AND METHODS: Clinically, it exhibits wide phenotypic variability. Presentation as isolated dystonia is exceptional. RESULTS: Here, the case of a woman with writers cramp without ataxia is presented as a paucisymptomatic manifestation of this disease. CONCLUSIONS: This association has not been described to date and extends the clinical variability of the disease.