ABSTRACT
Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ANN NEUROL 2019;86:643-652.
Subject(s)
Gerstmann-Straussler-Scheinker Disease/pathology , Gerstmann-Straussler-Scheinker Disease/physiopathology , Adult , Aged , Female , Humans , Male , Middle Aged , PhenotypeSubject(s)
Biopsy/methods , Brain/pathology , Cerebellar Ataxia/diagnosis , Cerebellar Ataxia/etiology , Creutzfeldt-Jakob Syndrome/diagnosis , Point-of-Care Testing , Biopsy/instrumentation , Brain/diagnostic imaging , Brain/surgery , Cerebellar Ataxia/pathology , Cerebellar Ataxia/surgery , Creutzfeldt-Jakob Syndrome/complications , Creutzfeldt-Jakob Syndrome/pathology , Creutzfeldt-Jakob Syndrome/surgery , Diagnosis, Differential , Fatal Outcome , Female , Humans , Middle AgedABSTRACT
The Heidenhain form of Creutzfeldt-Jakob disease (CJD) is a rare CJD variant with predominantly visual symptoms in the early stages. Clinical manifestations of metamorphopsia, hemianopia and Balint's syndrome correlate with the involvement of the posterior cortical regions. A 71-year old healthy and very active man was admitted because of impaired visual acuity, hemianopia, and gait disturbance progressing over one week. MRI found typical cortical hyperintensities in the occipital regions while rhythm slowing and sharp waves were seen in the occipital regions on EEG. Protein 14-3-3 was detected in the cerebrospinal fluid. Postmortem neuropathology revealed typical histopathological changes consistent with CJD. Moreover, we found deposits of phosphorylated tau protein in the limbic regions that met the criteria for primary age-related tauopathy (PART); representing an additional and interesting finding in our case.
Subject(s)
14-3-3 Proteins/cerebrospinal fluid , Creutzfeldt-Jakob Syndrome/diagnosis , Tauopathies/diagnosis , Vision Disorders/diagnosis , Aged , Brain/pathology , Comorbidity , Creutzfeldt-Jakob Syndrome/pathology , Diagnosis, Differential , Diffusion Magnetic Resonance Imaging , Electroencephalography , Fatal Outcome , Humans , Male , Neurologic Examination , Occipital Lobe/pathology , Phosphorylation , Tauopathies/pathology , Vision Disorders/pathology , tau Proteins/chemical synthesisABSTRACT
Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices. Clinical and neuropathological correlations in atypical neurodegenerations are crucial to describe new entities of overlapping syndromes.
