CASE REPORT
Coexistence of mixed phenotype Creutzfeldt-Jakob disease, Lewy body disease
and argyrophilic grain disease plus histological features of possible
Alzheimer's disease: A multi-protein disorder in an autopsy case
Iván Fernández-Vega1,2,*, Javier Ruiz-Ojeda3, Ramon A. Juste4, Maria
Geijo4, Juan Jose Zarranz5, Jose Luis Sánchez Menoyo3, Ikerne
Vicente-Etxenausia2, Jennifer Mediavilla-García2 and Isabel
Guerra-Merino1,2
Article first published online: 3 SEP 2014
DOI: 10.1111/neup.12150
© 2014 Japanese Society of Neuropathology
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Neuropathology
Early View (Online Version of Record published before inclusion in an
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Keywords:
argyrophilic grain disease; Creutzfeldt-Jakob disease;
immunohistochemistry; Lewy body disease; neurodegeneration
We report hereby an autopsy case of sporadic mixed phenotype CJD without
hereditary burden and a long-term clinical course. An 80-year old man was
diagnosed with mild cognitive impairment 27 months before death, caused by
bronchopneumonia and severe respiratory impairment. During this time, the
patient developed gradual mental deterioration, some sleeping problems and
myoclonus. Other clinical manifestations were progressive gait problems,
language deterioration, presence of primitive reflexes and irritability. In
keeping with those symptoms, a rapidly evolving dementia was clinically
suspected. Cerebrospinal fluid test for 14-3-3 protein was negative. However, an
abnormal EEG and MRI at end-stage of disease were finally consistent with CJD.
Post-mortem examination revealed a massive cortical neuronal loss with
associated reactive astrocytosis, also evident in the white matter. Diffuse
spongiform changes involving some basal ganglia, especially medial thalamus,
some troncoencephalic nuclei, mainly inferior olivary nucleus and the molecular
layer of the cerebellum were seen. Immunorreactive deposits for anti-prion
protein antibody were present at different areas of the CNS. Additionally, Lewy
bodies were observed at the brainstem and amygdala. Furthermore, argirophilic
grains together with oligodendroglial coiled bodies and pre-tangle inclusions in
the neurons from the limbic system containing hyperphosphorylated 4R tau were
noted. To the best of our knowledge, this is the first case of CJD combined with
Lewy body disease and argirophilic grain disease. Furthermore, we believe this
case is an extremely rare combination of MM2-cortical-type and MM2-thalamic-type
sporadic CJD (sCJD), which explains the broad spectrum of MM2-type sCJD findings
and symptoms. Moreover, histological features of possible Alzheimer's disease
were also reported.
Wednesday, August 27, 2014
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Protein Misfolding Cyclic Amplification
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