The Italian Journal of Neurological Sciences

, Volume 10, Issue 4, pp 433–439 | Cite as

Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype

  • Mondelli M. 
  • Rossi A. 
  • Palmeri S. 
  • Rizzuto N. 
  • Federico A. 
Original Articles


We report the electrophysiological investigation of two adult cases with GM 2 gangliosidosis with hexosaminidase A and B deficiency. Superficial peroneal biopsy was obtained from one patient. The electrophysiological alterations of the peripheral nervous system were fasciculations, signs of collateral reinnervation and loss of motor units, decrease in sensory potential amplitude and increase in distal motor latency. Increase in N9-N13 interpeak latency of the somatosensory evoked potentials and an increase I–V interpeak latency of the brain-stem auditory potentials were evident in both cases. Visual evoked potentials were normal. Nerve biopsy showed a severe loss of myelinated fibers, especially of those with the largest diameter, with no signs of segmental demyelination, or remyelination. A tentative interpretation of our findings is given.


GM2 gangliosidosis sensory and motor peripheral neuropathy somatosensory evoked potentials brain-stem auditory evoked responses visual evoked potentials 


Gli autori riportano lo studio neurofisiologico ed istologico di 2 soggetti adulti affetti da GM2 gangliosidosi da deficit di esosaminidasi A e B. Le alterazioni elettrofisiologiche del sistema nervoso periferico consistono in fascicolazioni, segni di reinnervazione collaterale e perdita di unità motorie, riduzione in ampiezza dei potenziali sensitivi e incremento delle latenze motorie distali. Sono presenti in ambedue i casi un incremento dell'interpicco N9-N13 dei potenziali evocati somatosensoriali e un aumento dell'interlatenza I–V di quelli uditivi. Normali sono i potenziali evocati visivi. La biopsia del nervo peroneo superficiale eseguita in un solo soggetto dimostra una severa perdita di fibre mieliniche soprattutto di più grosso calibro, senza segni di demielinizzazione segmentaria o rimielinizzazione. Viene infine proposta un 'interpretazione di tutti i dati.


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Copyright information

© Masson Italia Periodici 1989

Authors and Affiliations

  • Mondelli M. 
    • 1
  • Rossi A. 
    • 1
  • Palmeri S. 
    • 1
  • Rizzuto N. 
    • 2
  • Federico A. 
    • 1
  1. 1.Istituto di Scienze Neurologiche, Centro per lo studio delle Encefalo-Neuro-Miopatie GeneticheUniversità di SienaSiena
  2. 2.Dipartimento di NeuropatologiaUniversità di VeronaSiena

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