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
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive and fatal prion disease characterized
by cognitive decline and variable neurological manifestations.
Case Presentation: We report a 62-year-old woman who developed progressive memory impairment followed by severe
neurological deterioration,...
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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