A Case of Creutzfeldt-Jakob Disease Presenting with Auditory Agnosia as an Initial Manifestation

Orimo, Satoshi; Ozawa, Eisuke; Uematsu, Mikiko; Yoshida, Etsuko; Hino, Haruko; Yamada, Masahito; Okeda, Riki; Mizusawa, Hidehiro

doi:10.1159/000008250

Cited by 15 publications

(10 citation statements)

References 9 publications

(8 reference statements)

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“…A lesion responsible for auditory agnosia should involve both temporal cortices including the primary auditory cortex. In our patient the MRI did not reveal such involvement as for other reported cases . This finding of normal MRI may reflect the early stage of the disease or the insensitivity of MRI to posterior fossa structure involvement .…”

Section: Discussionsupporting

confidence: 57%

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Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease

Cohen

Kimiagar

Korczyn

et al. 2016

Euro J of Neurology

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Background and propose Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances, however some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this manuscript is to describe uncommon presentations in our series of consecutive patients with E200K fCJD. Methods The study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical MRI, electroencephalographic findings, elevated CSF tau protein levels, and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files. Results The study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ±7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However six patients had an unusual presentation including auditory agnosia, monoparesis, stroke like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome. Discussion Our case series illustrate the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies.

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Section: Discussionsupporting

confidence: 57%

“…The first patient described presented with hearing loss and vague symptoms of imbalance. Another patient presented with auditory agnosia as an initial manifestation and later developed cerebellar signs, dementia and myoclonus. Tobias et al .…”

Section: Discussionmentioning

confidence: 99%

Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease

Cohen

Kimiagar

Korczyn

et al. 2016

Euro J of Neurology

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“…This heterogeneity mirrors other reports of sCJD. A wide spectrum of focal presentations have been reported that include aphasia, 1-3 9-11 ataxia, 3 15 16 visual impairments, 1-5 12 cortical deafness, [17][18][19] depression, 20 and obsessive-compulsive disorder. 21 In other patients the presentation is relatively nonspecific and may consist of lethargy and difficulty in concentration.…”

Section: Discussionmentioning

confidence: 99%

Distinct neuropsychological characteristics in Creutzfeldt-Jakob disease

Snowden

2002

Journal of Neurology, Neurosurgery &Amp; Psychiatry

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Objectives: To characterise the nature of cognitive change in Creutzfeldt-Jakob disease (CJD). Methods: Case histories are reported of four patients with sporadic (sCJD) and two with familial CJD (fCJD), with postmortem pathological findings in four cases. The data derived from cognitive examination are examined with respect to the presence or absence of a variety of characteristics to elicit performance profiles across cognitive domains. Results: Three patients with sCJD exhibited clear focal cortical deficits. One patient had visual impairment leading to cortical blindness, associated with posterior hemisphere abnormalities on single photon emission computed tomography (SPECT) imaging; two others had impairments in language, mirrored by left hemisphere SPECT abnormalities. The remaining three patients showed no specific cortical symptomatology. Despite these differences all six patients shared common qualitative characteristics: episodic unresponsiveness, interference effects, and profound verbal and motor perseveration. These common features are interpreted in terms of impaired activation and regulation of neocortex from subcortical structures. Findings from postmortem pathological examination and from the published literature provide converging evidence to implicate a critical role of the thalamus. Conclusion: These preliminary findings suggest that sCJD and fCJD may be associated with distinct neuropsychological characteristics.

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“…Hearing problems, such as bilateral hypoacusis 2 and hyperacusis, 3 usually without tinnitus and vertigo, have been reported as initial presentations of sporadic Creutzfeldt-Jakob disease (CJD). Auditory agnosia and cortical deafness due to damage of bilateral temporal cortices were the causes of cortical hearing deficit.…”

Section: Discussionmentioning

confidence: 99%