Abstract Details

Title Sporadic Cruzfeldt-Jakob Presenting with Fixed Focal Dystonia

Topic Movement Disorders

Presentation(s) P02 - (-)

Poster/Presentation
Number 068

Objective

Background BACKGROUND: Sporadic Cruzfeldt-Jakob disease is a rare neurodegenerative disease, with many clinical presentations. Rapidly progressive dementia is a main clinical symptom, and movement disorders, specifically myoclonus and gait disturbance, typically occur later in disease.

Design/Methods DESIGN/METHODS: A case from the Movement Disorders Clinic at the Lahey Clinic is reviewed, with clinical presentation, imaging studies, electroencephalogram, laboratory results, and clinical course reviewed.

Results RESULTS: A 64 year old right handed woman presented to the Movement Disorder Clinic with subacute, progressive focal, fixed dystonia of the right hand. She first noticed diminished sensation in the 4th and 5th digits eight weeks prior to presentation, and later developed cramping and involuntary flexion of the fingers and her hand. There was high amplitude, jerky, irregular action tremor. EMG of the upper extremity was performed on two separate occasions, and was found to be normal. Brain and cervical MRI were unremarkable. A brain SPECT scan showed moderate asymmetric decreased perfusion to the right globus pallidus, and small focal perfusion defects involving the light high frontal and parietal-occipital cortices. EEG showed moderate encephalopathy with excessive bifrontal theta and delta activity. Initial lumbar puncture results were normal, but protein 14-3-3 later returned positive. The patient's mental status rapidly deteriorated over two months, and she discharged home with hospice care. She died three months later, less than seven months from symptom onset.

Conclusions CONCLUSIONS: Movement disorders are unusual presenting symptoms of CJD. Of these, fixed dystonia is a rare, with one case previously reported. In the majority of cases, dystonia is associated with other movement disorders, such as focal jerk myoclonus, choreoathetoid movements, postural tremor, alien limb, or bradykinesia.

Authors/Disclosures
Mathew Alias, DO (Neuroscience Center of Northern NJ) PRESENTER	No disclosure on file
Brian Scott, MD (Stanford University Center for Academic Medicine)	Dr. Scott has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Legend Biotech.
Diana Apetauerova, MD (Lahey Hospital and Medical Center)	Dr. Apetauerova has nothing to disclose.
David Miller	No disclosure on file

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