Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region

Autor:	R, Korinthenberg, M, Sauer, U P, Ketelsen, C O, Hanemann, G, Stoll, M, Graf, A, Baborie, B, Volk, B, Wirth, S, Rudnik-Schöneborn, K, Zerres
Rok vydání:	1997
Předmět:	Male Infant Newborn Spinal Muscular Atrophies of Childhood Axons Microscopy Electron Phenotype Sural Nerve Chromosomes Human Pair 5 Humans Female Neurons Afferent Hereditary Sensory and Autonomic Neuropathies Muscle Skeletal Gene Deletion Brain Stem
Zdroj:	Annals of neurology. 42(3)
ISSN:	0364-5134
Popis:	Three newborn siblings presented with generalized weakness, asphyxia, facial diplegia, and external ophthalmoplegia. Electrophysiological testing showed inexcitability of motor and sensory nerves and myographic signs of denervation. Nerve biopsies and postmortem examination showed loss of myelinated fibers and axonal damage in sensory and mixed nerves. Many spinal motor neurons were chromatolytic although their number was normal. Molecular genetic investigations revealed a homozygous deletion of the survival motor neuron (SMN) gene and a loss of markers Ag1-CA and C212 in the paternal haplotype. These findings are consistent with the diagnosis of an unusually severe type of spinal muscular atrophy. Given the large extent of the deletion, it must be considered that the unusual severe phenotype with involvement of brainstem nuclei and afferent nerves might also be due to changes of yet unknown genes neighboring the SMN gene.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a6a4f2a6ab0efccf6f95ab63dfccc35e https://pubmed.ncbi.nlm.nih.gov/9307259 Zobrazit plný text záznamu Plný text