RESUMEN
Patients with mutations in DJ-1 have early-onset Parkinson's disease and slow progression. Here we describe a Turkish family with a large deletion in the neighboring genes DJ-1 (del exons 1-5) and TNFRSF9 (del exons 1-6), raising the question if TNFRSF9 is a possible disease modifier.
Asunto(s)
Enfermedad de Parkinson , Proteína Desglicasa DJ-1 , Eliminación de Secuencia , Miembro 9 de la Superfamilia de Receptores de Factores de Necrosis Tumoral , Edad de Inicio , Exones , Humanos , Enfermedad de Parkinson/genética , Proteína Desglicasa DJ-1/genética , Miembro 9 de la Superfamilia de Receptores de Factores de Necrosis Tumoral/genéticaRESUMEN
Alzheimer's disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases. So far, autosomal dominantly inherited mutations in "Presenilin 1" (PSEN1), "Presenilin 2" (PSEN2), and "Amyloid precursor protein" (APP) genes were associated with familial AD. Amid the others, pathogenic mutations in the PSEN2 gene are less common. In this study, we describe a novel heterozygous PSEN2 (c.524C>T, p.Ser175Phe) alteration identified in a 58-year-old Turkish patient from a family with multiple dementia cases. This variant was further present in the patient's clinically affected maternal cousin as well as in the asymptomatic mother and two maternal aunts who were carriers of the APOE ε2/ε3 genotype. The variant is located in the conserved residue of transmembrane domain III encoded by exon 6 of the major transcript. In silico protein structure analyses predicted that this variant might change the architecture of interaction between the two alpha helixes of PSEN2. We propose that p.Ser175Phe may have a pathogenic effect on protein function and may play a significant role in the molecular pathways leading to Alzheimer's disease in this family.
Asunto(s)
Enfermedad de Alzheimer , Enfermedad de Alzheimer/genética , Precursor de Proteína beta-Amiloide/genética , Humanos , Persona de Mediana Edad , Mutación/genética , Presenilina-1/genética , Presenilina-2/genéticaRESUMEN
INTRODUCTION: The COVID-19 disease emerged in Wuhan province of China in November 2019 and spread across the world in a short time, resulting in a pandemic. The first case in Turkey was detected on March 11, 2020. The aim of the current study was to reveal the effects of COVID-19 on cranial nerves by monitoring people infected with the disease based on repeated examinations and surveys. MATERIAL AND METHOD: The data of 356 patients with a positive COVID-19 polymerase chain reaction (PCR) test who received treatment between June 2020 and August 2020 in our hospital were prospectively evaluated after the study was approved by the relevant ethics committee. RESULTS: Of the 356 patients included in the study, 47 under the age of 18 years were excluded due to their unreliable examination and anamnesis findings. In addition, seven patients that died while in hospital were excluded from the study due to the lack of examination and survey records during their hospitalization. The data of the remaining 302 patients were statistically analyzed. Symptoms of cranial nerve involvement were observed in 135 patients. CONCLUSION: The COVID-19 disease caused by the SARS-CoV2 virus commonly results in cranial nerve symptoms. The fact that these findings are more common and severe in COVID-19 than previous SARS and MERS outbreaks suggests that it has a more neurotrophic and more aggressive neuroinvasion. While the negative effects of the virus on sensory functions resulting from cranial nerve involvement are evident, motor functions are rarely affected.