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(Abst. 1.110), 2014

Authors: Masako Kinoshita, Hitoshi Nakano, Kwiyoung Park, Hirofumi Yamashita, Takayuki Kondo, Ryosuke Takahashi and Akio Ikeda
Content: Rationale: Familial Alzheimer's disease associated with mutations in the presenilin-1 gene (PS1) can present a wide range of clinical phenotypes, including myoclonus and epileptic seizures in addition to dementia. Here we evaluated clinical features of a patient with sporadic early-onset dementia with PS1 mutation. Methods: We investigated a 37-year-old male, who started having gradual cognitive decline at the age of 30 years, personality change in several years, and massive myoclonus and generalized tonic seizures at the age of 35 years. He had no family history for epilepsy or dementia. Results: The patient presented with cognitive dysfunction (disorientation, memory disturbance, and aphasia; MMSE 10/30), motor symptoms (antecollis and muscle rigidity), frequent myoclonus of all limbs and trunk, and monthly generalized convulsions. His EEG showed disorganized posterior dominant rhythm in 7-8 Hz, intermittent irregular slow generalized and regional bilateral frontal and temporal areas, and hemispheric spikes bilaterally independently. Brain MRI showed diffuse cerebral atrophy. C reflex was elicited by electric stimulation of the median nerves, but the amplitude of somatosensory evoked potentials was not enlarged. The genetic analysis demonstrated a mutation in the PS1. Clonazepam and valproate were effective to his myoclonus and seizures. Donepezil caused sleepiness and did not improve his cognitive performance. Conclusions: Even in sporadic cases of early-onset dementia, genetic evaluation of PS1 can be useful to those who exhibit myoclonus and seizures.