Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

Abstract

Clinical symptoms resulting from failure of dorsal horn of spinal cord and spinocerebellar tracts were observed in all cases. Radiologic findings revealed individual differences of involved region in their brain, which could produce clinical diversity. We identified a downtrend of blood flow in the anterior cerebellar lobes, a projection field of the spinocerebellar tracts, which is an important feature of Gerstmann-Sträussler-Scheinker syndrome.

Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome

“…This estimation is difficult to apply directly to all published cases, because of (1) the long period of data acquisition (some patients died in the 1950s, others in 2017), (2) a retrospective diagnosis in many cases, and (3) inconsistencies in prion disease surveillance in different countries. There is, however, an important argument for our observation, which is the increase in new cases reported since 2017; we found a total of 26 patients, including 6 of our 7 Czech patients (1 of our cases was published and is therefore already counted in the literature) …”

“…We focused on gender, age at onset, disease duration, onset and duration of dementia (from the onset of cognitive deterioration impacting on activities of daily living and continuing until death), onset of ataxia, MRI abnormalities (in particular basal ganglia, cortex, and cerebellum), polymorphism in codon 129, changes in deep tendon reflexes and sensory symptoms, and 14‐3‐3 protein in the CSF …”

“…The first step was to retrospectively analyze the clinical manifestation and results from auxiliary diagnostic methods (ie, brain magnetic resonance imaging [MRI], electroencephalogram [EEG], and cerebrospinal fluid [CSF] analysis) in the 7 Czech cases with postmortem confirmation. The next step was to extend this analysis by combining the data from the 7 Czech patients with data from 87 previously published P102L GSS cases, and with the use of cluster analysis, to define typical GSS syndrome phenotypes.…”

Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology

“…The PRNP p.P102L variant is commonly encountered, however, several other variants (including point mutations and repeat insertions) have been reported 1 . Neuroimaging can be normal, or demonstrate cerebellar, brainstem, or cerebral hemispheric atrophy, white matter lesions, and T2/diffusion‐weighted hyperintensities in the cortex or caudate/putamen 1,2,4,5 . The presence of basal ganglia hyperintensities are associated with more rapid progression and shorter disease duration 4 .…”

“…1 Neuroimaging can be normal, or demonstrate cerebellar, brainstem, or cerebral hemispheric atrophy, white matter lesions, and T2/diffusion-weighted hyperintensities in the cortex or caudate/putamen. 1,2,4,5 The presence of basal ganglia hyperintensities are associated with more rapid progression and shorter disease duration. 4 Cerebrospinal fluid (CSF) may reveal elevated 14-3-3, total tau, or β-amyloid levels, 6 and while real-time quaking-induced conversion (RT-QuIC) test has a high sensitivity for sporadic Creutzfeld-Jacob disease (CJD), only two-thirds of GSS patients have a positive result.…”