Neurophysiological studies contribute in diagnosing metabolic and degenerative disorders

E. Veneselli, R. Biancheri

Research output: Contribution to journalArticlepeer-review


Neurophysiological studies are important diagnostic tools for suspecting and early diagnosing metabolic and degenerative disorders of childhood. They can give useful information on the basis of the so-called selective vulnerability of the central nervous system. In fact, it is possible to identify a selective involvement of grey matter or white matter, either isolated or associated with peripheral, visual and/or auditory impairment. In some grey matter diseases, such as neuronal ceroid-lipofuscinoses. EEG and multimodal evoked potentials are specific for each subtype and vary during the course of the disorder. In white matter diseases, the nervous conduction velocity can demonstrate an associated involvement of the peripheral myelin, thus suggesting a limited number of diseases. Suggestive or even specific electrophysiological patterns may constitute an important indication for the correct diagnosis of neurometabolic diseases of childhood, if related to clinical signs and symptoms.

Original languageEnglish
Pages (from-to)339
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number5
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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