Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I

Ying Zu Huang, Szu Chia Lai, Chin Song Lu, Yi Hsin Weng, Wen Li Chuang, Rou Shayn Chen*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

17 Scopus citations


Objective: To examine neurophysiological evidence of functional involvement of the brainstem and spinal cord and motor cortical excitability in sialidosis type I, a rare inherited neurodegenerative disorder caused by mutations in the NEU1 gene. Methods: We investigated particular pathways in the brainstem, spinal cord and motor cortex in 12 genetically proven cases of sialidosis type I by assessing blink reflex recovery cycle (BR), spinal reciprocal inhibition (RI), input-output curves (I/O), short interval intracortical inhibition (SICI), intracortical facilitation (ICF) and silent period (SP). Results: The BR and RI were normal. The slope of I/O was significantly increased, and SICI and the duration of SP were reduced in sialidosis patients. Conclusions: Despite reports of pathology involving brainstem and anterior horn neurones, there were no obvious abnormalities in spinal and brainstem reflexes in the present patients, suggesting that the major clinical effects may be caused by changes at a level above the brainstem. Significance: For the first time, the integrity of certain brainstem and spinal cord reflexes in addition to motor cortical facilitatory and inhibitory circuits has been assessed in genetically proven type I sialidosis. This provides new data to aid in understanding of the pathophysiology of motor system dysfunction in this condition.

Original languageEnglish
Pages (from-to)1042-1050
Number of pages9
JournalClinical Neurophysiology
Issue number5
StatePublished - 05 2008


  • Blink reflex
  • Epilepsy
  • Myoclonus
  • Reciprocal inhibition
  • Sialidosis
  • Transcranial magnetic stimulation


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