Clinical and prognostic features of Heidenhain variant of Creutzfeldt−Jakob disease: A retrospective case series study

Abstract

Creutzfeldt-Jakob disease (CJD) is an invariably fatal neurodegenerative disease, caused by tissue deposition of a misfolded prion protein (PrP) [1]. It is categorized etiologically into sporadic, genetic, iatrogenic, and variant forms [2]. The genetic form of CJD, accounting for approximately 10%-15% of all cases, results from prion protein encoding gene PRNP mutation and is inherited with an autosomal dominant pattern [2].While CJD classically presents as rapidly progressive dementia, a small subgroup of cases present with prominent visual symptoms at

Prion propagation is dependent on key amino acids in Charge cluster 2 within the prion protein

“…For all SCAs, significance was calculated in a one-way ANOVA with Bonferroni correction for multiple comparisons to PK1-KD cells reconstituted with moPrP WT . It is indicated by *** for p ≤0.0002, * for p ≤0.005 (Yang et al , 2022). …”

Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt–Jakob Disease

“…Thus, this symptom may be overlooked, and a proportion of patients may visit the ophthalmology clinic. A previous study revealed that 35% of HvCJD cases presented to ophthalmologists were misdiagnosed with vitreous opacity, macular degeneration, or cataracts [ 2 ]. This can delay treatment and increase the risk of iatrogenic transmission via surgery.…”

“…However, there are a few case reports of HvCJD patients harboring prion protein gene ( PRNP ) mutations, such as E196A, T188K, V180I, and V210I [ 12 , 13 , 14 , 15 ]. A recent study showed that up to 20% of HvCJD cases are genetic [ 2 ]. Compared to sporadic HvCJD, the genetic form of HvCJD is associated with a significantly longer survival duration [ 2 ], but due to the small sample size of genetic HvCJD, a future study will need to be conducted to verify this finding.…”

“…A recent study showed that up to 20% of HvCJD cases are genetic [ 2 ]. Compared to sporadic HvCJD, the genetic form of HvCJD is associated with a significantly longer survival duration [ 2 ], but due to the small sample size of genetic HvCJD, a future study will need to be conducted to verify this finding. Based on current studies, we hypothesized that genetic HvCJD is not uncommon, and mutations in the PRNP gene may affect the clinical features of HvCJD.…”

“…The clinical presentations of CJD are highly heterogeneous, with rapidly progressive dementia being the typical symptom. The Heidenhain variant, CJD (HvCJD), is a peculiar clinical phenotype characterized by isolated visual disturbances at the disease's onset without other manifestations [1] and accounts for 3.7-24% of the total number of CJD cases [2][3][4][5]. A few HvCJD cases were reported successively, but most of them were case reports or small case series [4,[6][7][8][9][10].…”