Genetic counseling for prion disease: Updates and best practices

Goldman, Jill; Vallabh, Sonia M

doi:10.1016/j.gim.2022.06.003

Cited by 20 publications

(7 citation statements)

References 67 publications

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“…Human prion disease is a rare, fatal neurodegenerative disease, whereby major subtypes of which include bovine spongiform encephalopathy (BSE), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker disease (GSS). Prion disease is the cause of roughly 1 in 6000 deaths, with an incidence of one to two cases per million population per year [ 10 , 11 ]. In particular, BSE is a recently discovered zoonotic disease that affects adult cattle.…”

Section: Introductionmentioning

confidence: 99%

SARS-CoV-2 Affects Both Humans and Animals: What Is the Potential Transmission Risk? A Literature Review

Santaniello

Perruolo²,

Cristiano

et al. 2023

Microorganisms

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In March 2020, the World Health Organization Department declared the coronavirus (COVID-19) outbreak a global pandemic, as a consequence of its rapid spread on all continents. The COVID-19 pandemic has been not only a health emergency but also a serious general problem as fear of contagion and severe restrictions put economic and social activity on hold in many countries. Considering the close link between human and animal health, COVID-19 might infect wild and companion animals, and spawn dangerous viral mutants that could jump back and pose an ulterior threat to us. The purpose of this review is to provide an overview of the pandemic, with a particular focus on the clinical manifestations in humans and animals, the different diagnosis methods, the potential transmission risks, and their potential direct impact on the human–animal relationship.

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Section: Introductionmentioning

confidence: 99%

SARS-CoV-2 Affects Both Humans and Animals: What Is the Potential Transmission Risk? A Literature Review

Santaniello

Perruolo²,

Cristiano

et al. 2023

Microorganisms

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“…The knock-in mouse lines ki-3F4-FFI ( 8 ) and ki-3F4-CJD ( 9 ) harbor mutations orthologous to D178N and E200K, two of the three most common ( 10 ) causes of genetic prion disease in humans. Compared to inoculated models of prion disease, we envisioned that a therapeutic trial in a genetic mouse model would serve two goals.…”

Section: Introductionmentioning

confidence: 99%

Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease

Vallabh

Zou²,

Pitstick

et al. 2023

J Virol

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“…In any case, despite the phenotypic variability that often delays CJD diagnosis, clinicians should encourage relatives to undertake genetic counseling and testing, because, in the era of genetically targeted therapies, it might produce a useful result for the stratification of patients in future preventive treatment trials for prion disease, to develop novel therapeutic strategies [28,29].…”

Section: Discussionmentioning

confidence: 99%

Creutzfeldt–Jakob Disease Associated with E200K Mutation and SARS-CoV-2 Infection: Pure Coincidence or Neurodegenerative Acceleration?

Colaizzo,

Prosperini,

Petrucci

et al. 2024

CTN

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Several recent studies reported on some patients developing Creutzfeldt–Jakob disease (CJD) following coronavirus disease 2019, but, to the best of our knowledge, this case is the first reported in Italy on an onset of a CJD genetic form (gCJD) immediately after COVID-19 infection. We present a 51-year-old woman with a positive family history for CJD, who, two months after a mild SARS-CoV-2 infection, presented a rapidly progressing dementia diagnosed as CJD through clinical features, imaging, electroencephalography, and cerebrospinal fluid analysis. Genetic testing revealed the E200K mutation (p.Glu200Lys) c.598G>A, with homozygosity for methionine (MET) at codon 129, thus confirming the diagnosis of Creutzfeldt–Jakob disease. She passed away two months later. Interestingly, our case confirms that homozygous E200K gCJD patients are characterized by a relatively younger age of onset; moreover, it also sheds light on the neurodegeneration underlying both prion diseases and COVID-19 infection. In our opinion, the rising global prevalence of neurodegenerative complications following COVID-19 disease adds urgency to the study of this potential relationship, mostly in elderly patients who may experience worse long-lasting outcomes systemically and within the nervous system.

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Genetic counseling for prion disease: Updates and best practices

Cited by 20 publications

References 67 publications

SARS-CoV-2 Affects Both Humans and Animals: What Is the Potential Transmission Risk? A Literature Review

SARS-CoV-2 Affects Both Humans and Animals: What Is the Potential Transmission Risk? A Literature Review

Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease

Creutzfeldt–Jakob Disease Associated with E200K Mutation and SARS-CoV-2 Infection: Pure Coincidence or Neurodegenerative Acceleration?

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