Deafness: an unusual onset of genetic Creutzfeldt-Jakob disease

Cataldi, Maria Lia; Restivo, O.; Reggio, Ester; Restivo, Domenico A.; Reggio, A.

doi:10.1007/s100720070119

Cited by 19 publications

(10 citation statements)

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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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Section: Discussionmentioning

confidence: 99%

Distinct neuropsychological characteristics in Creutzfeldt-Jakob disease

Snowden

2002

Journal of Neurology, Neurosurgery &Amp; Psychiatry

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“…Only two cases of CJD with deafness at onset have been published: one sporadic, associated with symptoms suggestive of polyneuropathy,2 and the other familial, with the E200K mutation and typical features 3. Other cases have been reported as presenting with auditory agnosia or with cortical deafness, and early involvement of the acoustic pathway has already been detected through demonstration of progressive BAEP deterioration in patients with CJD who did not present deafness in the course of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…She later developed signs of polyneuropathy and mental deterioration, left homonynous hemianopsia and decreased vibratory and pinprick sensation. The second case was that of a 46-year-old Italian woman with the E200K mutation, who had rapidly worsening hearing loss 3. At 3 weeks after presentation she developed an unstable gait, and her condition rapidly progressed to bilateral deafness, ataxia, myoclonus, pyramidal and extrapyramidal dysfunction, and mental deterioration.…”

Section: Discussionmentioning

confidence: 99%

Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis

Rizzoli

Campdelacreu²,

Ferrer³

et al. 2009

Case Reports

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Creutzfeldt-Jakob disease (CJD) is characterised by rapidly progressive dementia, myoclonus, ataxia, visual disturbances and motor dysfunction. Most of the cases are sporadic. Only 10% to 15% are familial, and the most frequent point mutation is E200K. A 53-year-old man presented with subacute progressive bilateral hypoacusis, with tinnitus in the left ear. During the following months, his hypoacusis worsened and he progressively developed bilateral stocking-type paresthaesia and gait instability. An audiometric examination showed bilateral neurosensorial hypoacusis and nerve conduction studies showed a mixed axonal polyneuropathy. A CT scan and MRI of the brain were normal and the electroencephalography (EEG) showed non-specific changes. He died of respiratory infection 10 months after onset of symptoms. Neuropathological examination showed neuronal loss, punctate, synaptic-like deposits of protease-resistant prionic protein (PrP(RES)) in the cerebral and cerebellar cortices and auditory nuclei. This is a rare case of sporadic CJD presenting with hearing loss.

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“…85,86 Deafness can occur in mitochondrial disease, 90 MohrTranebjaerg syndrome, 101 Whipple disease, 34 HIV, 116 antiphospholipid syndrome, 99 Susac syndrome, 108 Fabry disease, 110 familial Danish dementia, 91 superficial siderosis, 80 variants of hereditary sensory and autonomic neuropathy type 1 with deafness and dementia, 118 and genetic prion disease. 127 Auditory agnosia with pure word deafness has been reported to occur as a result of vascular or space occupying lesions affecting the auditory cortex or subcortical structures such the medial geniculate body or the posterior limb of the internal capsule, 128,129 or rarely in the context of FTLD. 130 The presence of REM sleep behavior disorder, in which patients seem to be acting out their dreams, may be an indicator of early DLB or PDD.…”

Section: Other Neurologic Symptoms/signs Presentmentioning

confidence: 99%