We present a 67‐year‐old women with subacute onset of corticobasal‐, partial Balint syndrome and exaggerated startle response as the presenting symptoms of Creutzfeld‐Jakob disease (CJD). The previous 3 months she complained of a non‐specific dizziness. Since 2 weeks she had trouble with using the coffee machine and dressing. Last week she started bumping into obstacles on her left side. Also, she seemed to ignore the food on the left side of her platter. Her left hand made “strange” unpurposeful movements.
At admission, the patient was bradyphrenic and disoriented in time. Vital parameters were normal. There was apraxia with imitation (see video 1 ) and left‐sided visual‐ and sensory extinction. We saw uncontrolled slow posturing movements of her left arm and hand as well as “arm levitation” (see video 1), which we interpreted as “alien limb phenomenon”. Overall, movements were hypo‐ and bradykinetic and there was slight left‐sided rigidity. The left leg displayed action‐myoclonus (see video 2 ).
Video 1.
left‐sided arm levitation; left‐sided optic ataxia (note discrepancy with right hand); imitation apraxia.
Video 2.
exaggerated auditory startle response; left‐sided action myoclonus of the leg and arm.
The ophthalmologic evaluation confirmed normal visual acuity and intact visual fields. There were not any pyramidal‐ nor frontal release signs. Reflexes were normal. Simultanagnosia was not tested for. Pantomime and finger‐to‐nose testing were normal (not shown in the video).
The day after admission, more symptoms were observed including: optic ataxia (see Video 1) and exaggerated startle response to auditory stimuli (see Video 2). There also was ocular apraxia.
A brain MRI showed subtle cortical ribboning in the right parietal‐occipital area (see Figs. 1 and 2). Our patients' cerebrospinal fluid RT‐QuiC tested positive.
FIG. 1.
MRI showing cortical ribboning in right parieto‐occipital region on DWI.
FIG. 2.
MRI showing cortical ribboning in right parieto‐occipital region on ADC.
Subsequently, she displayed cortical blindness and akinetic mutism. She died 1 month after hospitalization. An autopsy confirmed the diagnosis of CJD (MM/MV1 histotype).
The abovementioned features give emphasis to a right parietal and occipital localized disease. Clinically there is a corticobasal syndrome with symptoms of left‐sided visual neglect, posterior variant alien limb phenomenon, gesture imitation apraxia and extrapyramidal features (including hypokinesia, bradykinesia and dystonia).
The patient displays a posterior variant alien limb with non‐purposeful, non‐complex movements (i.e. arm levitation). This is in contrast to a frontal variant alien limb, which manifests by more complex‐, purposeful movements and intermanual conflict. 1 , 2
The optic ataxia and ocular apraxia add up to a partial Balint syndrome. Optic ataxia is exhibited by misreaching in the contralesional visual field and trouble with “preshaping” the hand in order to grasp.
Posterior alien limb and optic ataxia concurrence have been previously reported. 3
Both symptoms result from parietal lobe dysfunction and frontal lobe disconnection. 2 , 4
Sporadic CJD is a progressive neurodegenerative disease caused by PRNP mutation‐based prion misfoldings into PrSc, which are especially present in the cerebral cortex.
Our patient displays symptoms of “cortical disconnection,” with both signs of cortical inhibition (optic ataxia, imitation apraxia; due to disrupted parietal frontal connections) and cortical disinhibition (alien limb, action myoclonus and exaggerated startle response, mirror movements).
Although a subacute evolving alien limb phenomenon should suspect possible CJD, 1 the debuting clinical presentation of corticobasal syndrome, optic ataxia and exaggerated startle response is rare. 1 , 5 Recognizing the features of CJD is relevant in order to diagnose soon, as time is scarce for these patients. This case emphasizes the appraisal of higher cortical functions, as these features can be missed in concise neurologic examination.
Author Roles
1. Research project: A. Conception, B. Organization, C. Execution; 2. Statistical Analysis: A. Design, B. Execution, C. Review and Critique; 3. Manuscript Preparation: A. Writing of the first draft, B. Review and Critique.
J.B.: 1B, 1C, 3A
S.T.: 1A, 1B, 3B
Disclosures
Ethical Compliance Statement
The authors confirm that the approval of an institutional review board was not required for this work. Informed consent was acquired by a signed document of the patients husband. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.
Funding Sources and Conflict of Interest
No specific funding was received for this work. The authors declare that there are no conflicts of interest relevant to this work.
Financial Disclosures for the Previous 12 months
The authors declare that there are no additional disclosures to report.
References
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