Background: Although myoclonus and ataxia are considered common in patients with familial Creutzfeld-Jakob Disease (fCJD), other movement disorders are considered less prevalent.
Objectives: To systemically evaluate the frequency of extrapyramidal signs and movement disorders (MD) in patients with fCJD.
Methods: Forty three consecutive symptomatic CJD patients (26 males, mean age 58.7±8.9 yrs, range 43-77 yrs) carrying the E200K mutation in the PRNP gene underwent a detailed neurological examination, with special emphasis on MD and extrpyramidal signs.
Results: Thirty-eight patients (88%) (37/43, 86% at presentation) had limb or gait ataxia. Myoclonus was evident in 25/43 patients (58%) (21/43, 49% at presentation). Ninety-five percent of the patients (41/43) had at least one extrapyramidal sign throughout the disease course (37/43, 86% at presentation), the most prevalent of which was rigidity (28/43, 65% of the patients and 22/43 51% at presentation), followed by the glabellar sign (24/43 , 56% of the patients and 22/43, 51% at presentation), bradykinesia (19/43 , 44% of the patients and 15/43, 35% at presentation), dystonia (15/43, 35% patients, 12/43, 28% at presentation) and tremor (13/43 patients, 30%, 12/43, 28% at presentation).
Conclusion: In this unique population fCJD patients, myoclonus was less prevalent than previously reported while other extrpyramidal signs were very common occurring at a relatively early stage of the disease. The high prevalence of MD can be added to other phenomena characteristic to the familial disorder in Libyan Jews. Whether this is attributable to the E200K mutation itself or to some other mechanism has still to be elucidated.
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