Startle epilepsy complicating aspartylglucosaminuria

Brain Dev. 2004 Mar;26(2):130-3. doi: 10.1016/S0387-7604(03)00069-X.


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 of the frequent falls. Electromyogram recording showed a large, excessive and not habituating motor startle response, with the classical and stereotyped order of muscle recruitment. During video-polygraphic recording, we recorded a reflex generalized tonic seizure triggered by a loud, unexpected acoustic stimulus. Brain magnetic resonance (MR) revealed no structural abnormality. A diagnosis of abnormal startle and startle epilepsy (SE) was made. The addition of clonazepam to valproate and phenobarbital led to a dramatic improvement in his abnormal startle and SE, and the patient was able to walk alone unaided. This report illustrates, for the first time, that abnormal startle and SE may occur in AGU and complicate its clinical picture. Recognition of this entity in AGU is important, as progressive gait disorder with frequent falls could be easily misinterpreted as an additional irreversible manifestation of the ongoing neurological deterioration characteristic of AGU.

Publication types

  • Case Reports

MeSH terms

  • Acetylglucosamine / analogs & derivatives*
  • Acetylglucosamine / urine*
  • Acoustic Stimulation
  • Adult
  • Anticonvulsants / therapeutic use
  • Brain / drug effects
  • Brain / enzymology
  • Brain / physiopathology
  • Diagnosis, Differential
  • Electroencephalography
  • Electromyography
  • Epilepsy / drug therapy
  • Epilepsy / etiology*
  • Epilepsy / physiopathology*
  • Gait Disorders, Neurologic / etiology
  • Humans
  • Lysosomal Storage Diseases, Nervous System / complications*
  • Lysosomal Storage Diseases, Nervous System / metabolism
  • Lysosomal Storage Diseases, Nervous System / physiopathology*
  • Magnetic Resonance Imaging
  • Male
  • Muscle Contraction / drug effects
  • Muscle Contraction / physiology
  • Reflex, Startle / drug effects
  • Reflex, Startle / genetics*
  • Treatment Outcome


  • Anticonvulsants
  • N-acetylglucosaminylasparagine
  • Acetylglucosamine