2026-10-14T04:19:19Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33993064 2026-09-25T05:31:28Z category_15 portal_316 item_type_3 month_year_09_2026

Table 1_PRNP D178N-129MM prion disease: Creutzfeldt-Jakob disease-like cortical ribboning without prominent early insomnia.docx Wanyi Wei (12291977) Haitian Nan (6833609) Zhongyun Chen (11405870) Junjie Li (12724) Neuroscience cortical ribboning diffusion-weighted imaging fatal familial insomnia prion disease PRNP sleep–wake disorders Background<p>The PRNP p.Asp178Asn (D178N) mutation on a methionine-bearing codon-129 allele is classically associated with fatal familial insomnia (FFI), but some carriers develop a Creutzfeldt-Jakob disease (CJD)-like phenotype.</p>Case presentation and findings<p>We report a 59-year-old woman with two months of rapidly progressive cognitive-language decline, caregiver-observed nocturnal sitting-up and sleep talking, weight loss, extensive cortical diffusion-weighted imaging (DWI) ribboning, positive cerebrospinal fluid 14–3-3, and positive multisite skin real-time quaking-induced conversion. Electroencephalography showed diffuse slowing without periodic sharp-wave complexes. PRNP sequencing identified D178N with methionine homozygosity at codon 129. A focused literature review identified six previously reported individual D178N-129MM cases with prion-compatible cortical or cortical-striatal DWI abnormalities. Because these reports were selectively ascertained by imaging and used heterogeneous clinical assessments, they were not treated as a clinical series or compared numerically with MRI-negative cohorts. Other D178N-129MM reports show normal DWI in non-insomnia cognitive or motor presentations, objective sleep abnormalities preceding insomnia, and occasional cortical DWI hyperintensity in FFI cohorts.</p>Conclusion<p>D178N-129MM disease shows substantial phenotypic and imaging heterogeneity. Marked CJD-like cortical ribboning can occur in an initially non-sleep-dominant presentation and should not exclude an FFI-associated genotype. MRI pattern alone should not be used to infer a specific clinical phenotype; PRNP sequencing and objective sleep assessment remain important when clinically appropriate.</p> 2026-09-25T05:31:28Z Dataset Dataset 10.3389/fnins.2026.1950003.s001 https://figshare.com/articles/dataset/Table_1_PRNP_D178N-129MM_prion_disease_Creutzfeldt-Jakob_disease-like_cortical_ribboning_without_prominent_early_insomnia_docx/33993064 CC BY 4.0