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Neurophysiological studies in GM1, gangliosidosis

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Abstract

Neurophysiological studies(EEG, ERG, VEP) have been carried out on 8 children with proven GM1 gangliosidosis (3 of Type I and 5 of Type II). All the EEGs were abnormal showing an increasing amount of irregular slow activity as the disease progressed. Around 2 to 3 years of age, Type II patients often showed a fluctuating 4–5 c/s rhythmic activity especially prominent in the temporal regions. Paroxysmal activity was not a conspicuous feature in any of the patients. The ERG was normal in all cases but the VEP was variably altered. The EEG / ERG/ VEP findings in GM1 gangliosidosis differ from those seen in most other neurometabolic disorders of childhood.

Sommario

Sono stati condotti studi neurofisiologici(EEG, ERG, PEV) in 8 bambini con accertato GM1 gangliosidiosi (3 di tipo I e 5 di tipo II). Tutti gli EEG sono risultati anormali dimostrando un aumento di attività lenta e irregolare col procedere della malattia. I pazienti del gruppo II presentano, attorno ai 2–3 anni di età, un'attività fluttuante e ritmica a 4–5 c/s prevalente soprattutto nelle regioni temporali. L'attività parossistica non risultava continua in alcun caso. L'ERG era normale in tutti i casi e la PEV era variamente alterata. In sintesi i rilievi EEG, ERG, PEV nella GM1 gangliosidiosi differiscono da quelli che si riscontrano nella maggioranza delle malattie neurometaboliche infantili.

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Authors and Affiliations

  1. Department of Clinical Neurophysiology, The Hospital for Sick Children, London

    Harden A. & Pampiglione G.

  2. Institute of Child Neuropsychiatry, University of Belgrade, Yugoslavia

    Martinovic Z. (Assistant Professor)

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  1. Harden A.
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  2. Martinovic Z.
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  3. Pampiglione G.
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Harden, A., Martinovic, Z. & Pampiglione, G. Neurophysiological studies in GM1, gangliosidosis. Ital J Neuro Sci 3, 201–206 (1982). https://doi.org/10.1007/BF02043310

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  • DOI: https://doi.org/10.1007/BF02043310

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