aspartylglucosaminuria/癲癇性発作

From the age of 24 years a young man with a definitive diagnosis of aspartylglucosaminuria (AGU) presented short-lasting sleep-related paroxysmal events characterized by sudden awakening with a frightened look, hyperventilation, and complex bilateral motor activity. Nocturnal video-polysomnography

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder with reduced life-span. An analysis of 121 Finnish patients showed that 22 to 78 adults (28%) and one of 43 children (2%) had epileptic seizures. Twelve patients had the onset of attacks after the age of 30 years. Eleven patients had

Two members of a consanguineous Japanese family with a clinical picture of aspartylglycosaminuria (AGU) are described. Both patients exhibited mental retardation, coarse facial features, angiokeratoma and myoclonic seizures. Biochemical studies showed elevated excretion of urinary

A 21-year-old right-handed man with definite diagnosis of aspartylglucosaminuria (AGU) presented with a 5-year history of progressive severe gait disturbance with frequent falls and generalized epileptic seizures triggered by unexpected stimuli. At one time, he was confined to a wheelchair because