Clinical findings of a probable case of MM2-cortical-type sporadic Creutzfeldt-Jakob disease with antibodies to anti-N-terminus of α-enolase

Abstract

We report the case of a 76-year-old woman presenting with 47-month history of progressive dementia and cortical blindness with no family history. Antibodies against thyroid glands and the N-terminus of α-enolase (NAE) were detected in her serum. Neurological examination revealed progressive dementia, frontal signs, visual disturbance, and exaggerated bilateral tendon reflexes in both legs. Diffusion MRI showed cortical hyper-intensities in the bilateral occipital and parietal, and the left frontal and temporal cortices. Tc-ethyl cysteinate dimer-single photon emission computed tomography indicated decreased regional cerebral blood flow throughout the bilateral parietal lobes and partially in the left frontal and temporal lobes. PRNP gene analysis showed no mutations with methionine homozygosity at codon 129 in peripheral blood. Cerebrospinal fluid examination, including 14-3-3 and total tau protein detection, revealed normal levels; however, prion proteins were amplified by the real-time quaking-induced conversion method. Hashimoto's encephalopathy was excluded on the basis of unresponsiveness to corticosteroids. The symptoms progressed slowly. Periodic sharp-wave complexes were observed on electroencephalogram 36 months after the onset of symptoms; the patient reached a state of akinetic mutism at 47 months. This was a probable case of MM2-cortical-type sCJD with anti-NAE antibodies based on the World Health Organization (WHO) diagnostic criteria for sCJD, genetic information, and the slowly progressive course. However, this case did not meet with the probable WHO diagnostic criteria until 3 years after symptom onset, highlighting the difficulty of diagnosing a living case of the MM2-type of sCJD. Therefore, establishment of clinical diagnostic criteria for MM2-type of sCJD is required.

Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease

“…With regard to the pathophysiology of dysphagia, these previous reports revealed that the brainstem was preserved and that these findings supported the diagnosis of pseudobulbar palsy. Some V180I gCJD patients could continue oral intake until death, as well as those with MM2-cortical type sporadic Creutzfeldt-Jakob disease [18]. In the present patient, her family had a desire that she ingests orally.…”

Gerstmann's Syndrome in a Patient Double-positive for Antibodies against the N-methyl-D-aspartate Receptor and NH₂-terminal of α-enolase

“…Although NAE antibodies have been proposed as a specific marker of Hashimoto encephalopathy (8,11), the target antigen is an intracellular protein, and the causative role of the antibodies has not been fully established (18,19). These antibodies were also identified in patients with Creutzfeldt-Jakob disease and limbic encephalitis with LGI1 antibodies (9,18,20). Therefore, confirmation of the absence of well-characterized neuronal antibodies in the serum and CSF is essential for the diagnosis of Hashimoto encephalopathy (12).…”

Clinicopathological findings of an MM2-cortical-type sporadic Creutzfeldt-Jakob disease patient with cortical blindness during a course of glaucoma and age-related macular degeneration

“…The frequency of MM2C-type sCJD among sCJD patients have been reported to be 2% of sCJD and 6.7% in the Caucasian and the Japanese population, respectively [1]. Previously, we reported a probable MM2C-type sCJD patient whose clinical course involved presentations resembling the Heidenhain variant form of CJD, with the onset of isolated visual disturbance, and later development of dementia [2]. Early clinical symptoms of MM2C-type sCJD do not always satisfy the revised World Health Organization (WHO) diagnostic criteria for sCJD.…”