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

Autor:	Brunhilde Wirth, Klaus Zerres, Guido Stoll, Sabine Rudnik-Schöneborn, A. Baborie, Benedikt Volk, U.-P. Ketelsen, M. Graf, M. Sauer, Rudolf Korinthenberg, Clemens Oliver Hanemann
Rok vydání:	1997
Předmět:	Denervation Asphyxia business.industry External ophthalmoplegia Anatomy Spinal muscular atrophy Motor neuron medicine.disease Central nervous system disease medicine.anatomical_structure Degenerative disease nervous system Neurology medicine Neurology (clinical) Brainstem medicine.symptom business
Zdroj:	Annals of Neurology. 42:364-368
ISSN:	0364-5134
DOI:	10.1002/ana.410420314
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
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