ArticleMolecular genetics & genomic medicine2020
A case report of genetic prion disease with two different PRNP variants.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 12 citations in OpenAlex.
- Contributions of rare and common variation to early-onset and atypical dementia risk.Cold Spring Harbor molecular case studies · 2023Article
- Contributions of rare and common variation to early-onset and atypical dementia risk.medRxiv : the preprint server for health sciences · 2023Article
- Article
- Both N-Terminal and C-Terminal Histidine Residues of the Prion Protein Are Essential for Copper Coordination and Neuroprotective Self-Regulation.Journal of molecular biology · 2020Article
- A case report of genetic prion disease with two different PRNP variants.Molecular genetics & genomic medicine · 2020Article
- Soluble dimeric prion protein ligand activates Adgrg6 receptor but does not rescue early signs of demyelination in PrP-deficient mice.PloS one · 2020Article
- Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With aFrontiers in cellular neuroscience · 2020Article
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4 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundPrion diseases are a group of lethal neurodegenerative conditions that occur when the normal, cellular form of the prion protein (PrP
methodsThe patient was evaluated at the Washington Hospital Healthcare System in Fremont, CA. The clinical information for this case report was obtained retrospectively. Variants in the PRNP were identified by polymerase chain reaction (PCR) amplification of exon two of the gene followed by bi-directional sequence analysis. To determine the phase of the identified variants, a restriction enzyme digestion was utilized, followed by sequence analysis of the products. Cerebral spinal fluid (CSF) was analyzed for surrogate markers of prion disease, 14-3-3 and Tau proteins. CSF real-time quaking-induced conversion (RT-QuIC) assays were also performed.
resultsThe patient was a compound heterozygote for the well-characterized c.628G>A (p.Val210Ile) variant and the rare octapeptide deletion of two repeats [c.202_249del48 (p.P68_Q83del)]. Clinically, the patient presented with an early onset demyelinating peripheral neuropathy, followed by later onset cognitive symptoms.
conclusionThis presentation is reminiscent of prion protein knockout mice whose predominate symptom, due to complete loss of PrP, was late-onset peripheral neuropathy. To our knowledge this is the first case reported of a patient with prion disease who had two different pathogenic variants in PRNP.
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