Literature DB >> 488141

Evoked potentials in neuronal ceroid lipofuscinosis.

W Tackmann, D Kuhlendahl.   

Abstract

Nerve conduction, EEG, visual evoked potentials, electroretinograms and somatosensory evoked potentials were investigated in 3 children with the Bielschowsky-Jansky-type and in 1 child diagnosed as Spielmeyer-Vogt-type of neuronal ceroid lipofuscinosis. Electroretinographic responses were abolished in all of them. Electroencephalograms showed high amplitude, irregular delta-theta activity and spike- or polyspike-wave discharges without localized preponderance. As a characteristic feature for the Bielschowsky-Jansky type grossly enlarged evoked responses to single light flashes were recorded. Somatosensory evoked potentials were increased in amplitude in 2 patients. Myoclonic jerks of the pyramidal type could be elicited by electrical stimuli to the median nerve. The possibility to differentiate certain neurometabolic disorders of childhood by simple electrophysiological parameters is discussed.

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Year:  1979        PMID: 488141     DOI: 10.1159/000115082

Source DB:  PubMed          Journal:  Eur Neurol        ISSN: 0014-3022            Impact factor:   1.710


  5 in total

1.  Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.

Authors:  Catherine Kielar; Lucy Maddox; Ellen Bible; Charlie C Pontikis; Shannon L Macauley; Megan A Griffey; Michael Wong; Mark S Sands; Jonathan D Cooper
Journal:  Neurobiol Dis       Date:  2006-10-12       Impact factor: 5.996

2.  Adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations.

Authors:  A Vercruyssen; J J Martin; C Ceuterick; K Jacobs; L Swerts
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-11       Impact factor: 10.154

3.  Spielmeyer-Vogt disease: clinical and neurophysiological aspects.

Authors:  L Piattella; C Cardinali; N Zamponi; O Papa
Journal:  Childs Nerv Syst       Date:  1991-08       Impact factor: 1.475

4.  Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Authors:  M Savukoski; M Kestilä; R Williams; I Järvelä; J Sharp; J Harris; P Santavuori; M Gardiner; L Peltonen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

Review 5.  Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature.

Authors:  P Santavuori; J Rapola; R Raininko; T Autti; M Lappi; A Nuutila; J Launes; K Sainio
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

  5 in total

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