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Metiltransferases , Natimorto , Humanos , Feminino , Gravidez , Virulência , Proteínas MitocondriaisRESUMO
We read with interest the article by Camargo-Coronel et al. reporting on a systematic review of patients with idiopathic, inflammatory myopathy developing after anti-SARS-CoV-2 vaccinations.
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COVID-19 , Miosite , Humanos , COVID-19/epidemiologia , COVID-19/prevenção & controle , SARS-CoV-2 , Miosite/epidemiologia , Miosite/etiologiaRESUMO
OBJECTIVES: Severe, acute, respiratory syndromecoronavirus- 2 (SARS-CoV-2) infections can be complicated by central nervous system (CNS) disease. One of the CNS disorders associated with Coronavirus Disease-19 (COVID- 19) is posterior reversible encephalopathy syndrome (PRES). This narrative review summarises and discusses previous and recent findings on SARS-CoV-2 associated PRES. METHODS: A literature search was carried out in PubMed and Google Scholar using suitable search terms and reference lists of articles found were searched for further articles. RESULTS: By the end of February 2023, 82 patients with SARS-CoV-2 associated PRES were recorded. The latency between the onset of COVID-19 and the onset of PRES ranged from 1 day to 70 days. The most common presentations of PRES were mental deterioration (n=47), seizures (n=46) and visual disturbances (n=18). Elevated blood pressure was reported on admission or during hospitalisation in 48 patients. The most common comorbidities were arterial hypertension, diabetes, hyperlipidemia and atherosclerosis. PRES was best diagnosed by multimodal cerebral magnetic resonance imaging (MRI). Complete recovery was reported in 35 patients and partial recovery in 21 patients, while seven patients died. CONCLUSIONS: PRES can be a CNS complication associated with COVID-19. COVID-19 patients with mental dysfunction, seizures or visual disturbances should immediately undergo CNS imaging through multimodal MRI, electroencephalography (EEG) and cerebrospinal fluid (CSF) studies in order not to miss PRES.
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COVID-19 , Hipertensão , Síndrome da Leucoencefalopatia Posterior , Humanos , Síndrome da Leucoencefalopatia Posterior/diagnóstico , Síndrome da Leucoencefalopatia Posterior/etiologia , SARS-CoV-2 , COVID-19/complicações , Convulsões/etiologia , Eletroencefalografia/efeitos adversos , Eletroencefalografia/métodos , Hipertensão/complicações , Imageamento por Ressonância Magnética/métodosRESUMO
No abstract available.
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Cérebro , Diagnóstico por Imagem , Humanos , Diagnóstico por Imagem/métodos , Cérebro/diagnóstico por imagemAssuntos
COVID-19 , SARS-CoV-2 , Humanos , COVID-19/epidemiologia , Imunocompetência , Surtos de DoençasRESUMO
During recent years an increasing number of neurologic disorders due to expanded tri-, tetra-, penta-, or hexa-nucleotide repeat motifs in introns of various genes have been described (neurologic intronic repeat disorders (NIRDs)). The repeat may be pathogenic in the heterozygous or homozygous form. Repeat lengths vary considerably and can be stable or unstable during transmission to the next generation. The most well-known NIRDs are Friedreich ataxia, spinocerebellar ataxia types-10, -31, and -36, CANVAS, C9Orf72 familial amyotrophic lateral sclerosis (fALS), and myotonic dystrophy-2 (MD2). Phenotypically, NIRDs manifest as mono-organ (e.g. spinocerebellar ataxia type 31) or multi-organ disease (e.g. Friedreich ataxia, myotonic dystrophy-2). A number of other more rare NIRDs have been recently detected. This review aims at summarising and discussing previous findings and recent advances concerning the etiology, pathophysiology, clinical presentation, and therapeutic management of the most common NIRDs.
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Esclerose Amiotrófica Lateral , Distrofia Miotônica , Doenças do Sistema Nervoso , Ataxias Espinocerebelares , Humanos , Distrofia Miotônica/genética , Íntrons , Ataxias Espinocerebelares/genética , Expansão das Repetições de DNA , Doenças do Sistema Nervoso/genética , Esclerose Amiotrófica Lateral/genética , FenótipoRESUMO
Monogenic diseases, although rare, should be always considered in the diagnostic work up of vascular dementia (VaD), particularly in patients with early onset and a familial history of dementia or cerebrovascular disease. They include, other than CADASIL, Fabry disease, Col4A1-A2 related disorders, which are well recognized causes of VaD, other heritable diseases such as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and cathepsin-A related arteriopathy strokes and leukoencephalopathy (CARASAL). MELAS, caused by mtDNA (80% of adult cases m.3243A>G mutations) and more rarely POLG1 mutations, has minimum prevalence of 3.5/100,000. CARASAL, which is caused by mutations in the CTSA gene, has been described in about 19 patients so far. In both these two disorders cognitive features have not been fully explored and are described only in case series or families. This review paper is aimed at providing an update on the clinical manifestations, with particular focus on cognitive aspects, but also neuroradiological and genetic features of these less frequent monogenic diseases associated with VaD.
