[article]
| Titre : |
The nosology of genetic peripheral neuropathies in Swedish children |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Bengt HAGBERG, Auteur ; Barbro WESTERBERG, Auteur |
| Année de publication : |
1983 |
| Article en page(s) : |
p.3-18 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
103 consecutive childhood cases of genetic peripheral neuropathies of heredodegenerative background were collected from Gothenburg from 1973 to 1980. From this series, 63 hereditary motor and sensory neuropathies (HMSN) were distinguished: 31 cases of demyelinating and remyelinating HMSN (HMSN I), 21 (18 families) with an autosomal dominant and 10 with sporadic mode of inheritance and unaffected parents; and 32 cases of neuronal-axonal types (HMSN II), 27 of whom (25 families) had at least one affected, if asymptomatic, parent. In one family, both parents were neurologically and neurophysiologically completely normal. Three cases of uncharacteristic HSN were diagnosed. Among 37 cases with a combined degenerative encephalopathy/myelopathy and a peripheral neuropathy, nine had hereditary spastic paraplegia, six had heredoataxias (three of the Friedreich type), nine had lysosomal storage diseases (five of the Krabbe type), seven had other known inborn metabolic errors and six had biochemically undefined disorders. Progressive neuropathies are important manifestations of a large variety of genetically determined heredodegenerative neurological disorders of infancy and childhood. For classification of HMSN, clinical and neurophysiological examinations are necessary for the index case and for both parents as well. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 |
in Developmental Medicine & Child Neurology > 25-1 (February 1983) . - p.3-18
[article] The nosology of genetic peripheral neuropathies in Swedish children [Texte imprimé et/ou numérique] / Bengt HAGBERG, Auteur ; Barbro WESTERBERG, Auteur . - 1983 . - p.3-18. Langues : Anglais ( eng) in Developmental Medicine & Child Neurology > 25-1 (February 1983) . - p.3-18
| Index. décimale : |
PER Périodiques |
| Résumé : |
103 consecutive childhood cases of genetic peripheral neuropathies of heredodegenerative background were collected from Gothenburg from 1973 to 1980. From this series, 63 hereditary motor and sensory neuropathies (HMSN) were distinguished: 31 cases of demyelinating and remyelinating HMSN (HMSN I), 21 (18 families) with an autosomal dominant and 10 with sporadic mode of inheritance and unaffected parents; and 32 cases of neuronal-axonal types (HMSN II), 27 of whom (25 families) had at least one affected, if asymptomatic, parent. In one family, both parents were neurologically and neurophysiologically completely normal. Three cases of uncharacteristic HSN were diagnosed. Among 37 cases with a combined degenerative encephalopathy/myelopathy and a peripheral neuropathy, nine had hereditary spastic paraplegia, six had heredoataxias (three of the Friedreich type), nine had lysosomal storage diseases (five of the Krabbe type), seven had other known inborn metabolic errors and six had biochemically undefined disorders. Progressive neuropathies are important manifestations of a large variety of genetically determined heredodegenerative neurological disorders of infancy and childhood. For classification of HMSN, clinical and neurophysiological examinations are necessary for the index case and for both parents as well. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 |
|
The nosology of genetic peripheral neuropathies in Swedish children in Developmental Medicine & Child Neurology, 25-1 (February 1983)