A 60-year-old patient presenting with progressive instability, late- ral propulsion, generalized polymyoclonus, tremors, paranoid delusions, paranoid delusions, and vivid hallucinations is reported, highlighting the value of DWI/MRI in identifying atypical variants and reinforces the importance of integrating biomarker-supported diagnosis and clinical-radiological correlation when approaching this disease.
Background 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. Case presentation and findings We report a 59-year-old woman with two months of rapidly prog...
Wan-Yi Wei, Hai-Tian Nan, Zhong-Yun Chen et al.· Frontiers in Neuroscience· 0 citations
The case of a 62-year-old woman who developed progressive memory impairment followed by severe neurological deterioration, diffuse myoclonus, and pyramidal and extrapyramidal signs highlights the complementary diagnostic value of MRI and EEG in suspected sCJD, particularly when prion-specific biomarkers are unavailable...
Raphael Zimmermann, Sheila Zimmermann Kibrit, Allan Zimmermann· Advances in Neurology and Ne...· 0 citations
Labrune syndrome, also termed leukoencephalopathy with calcifications and cysts (LCC), is a rare autosomal recessive cerebral microangiopathy associated with pathogenic variants of the SNORD118 gene. Long-term clinical follow-up of childhood-onset LCC progressing into adulthood is limited in the literature....
Di Tian, Bin Chen, Wei Li et al.· Frontiers in Neuroscience· 0 citations
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