Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve / F. GUZZETTA in Developmental Medicine & Child Neurology, 28-1 (February 1986)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 28-1 (February 1986) . - p.62-68 Titre : Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve Type de document : Texte imprimé et/ou numérique Auteurs : F. GUZZETTA, Auteur ; G. FERRIERE, Auteur ; G. TORTORELLA, Auteur ; E. CARDIA, Auteur Année de publication : 1986 Article en page(s) : p.62-68 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A case of typical familial dysautonomia (HSN, type III) in a non-Jewish girl is reported. The number of unmyelinated fibres was found to be reduced and sural nerve biopsy showed evidence of past axonal degeneration. There was also marked endoneurial fibrosis and a lack of the largest myelinated fibres. Signs of histological progression not yet described in the sural nerve and other clinical and morphological features could be explained by different penetrance degrees of the disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=610 [article] Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve [Texte imprimé et/ou numérique] / F. GUZZETTA, Auteur ; G. FERRIERE, Auteur ; G. TORTORELLA, Auteur ; E. CARDIA, Auteur . - 1986 . - p.62-68. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 28-1 (February 1986) . - p.62-68 Index. décimale : PER Périodiques Résumé : A case of typical familial dysautonomia (HSN, type III) in a non-Jewish girl is reported. The number of unmyelinated fibres was found to be reduced and sural nerve biopsy showed evidence of past axonal degeneration. There was also marked endoneurial fibrosis and a lack of the largest myelinated fibres. Signs of histological progression not yet described in the sural nerve and other clinical and morphological features could be explained by different penetrance degrees of the disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=610

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