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Clinical and molecular genetic features of congenital spinal muscular atrophy
Author(s) -
Devriendt Koenraad,
Schollen Els,
Cassiman JeanJacques,
Fryns JeanPierre,
Matthijs Gert,
Lammens Martin,
van Hole Chris,
Devlieger Hugo,
Dom René
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400509
Subject(s) - spinal muscular atrophy , medicine , progressive muscular atrophy , atrophy , physical medicine and rehabilitation , pathology , neuroscience , biology , disease , amyotrophic lateral sclerosis
A neonate presented with the fetal hypokinesia sequence and signs of spinal muscular atorphy (SMA). Severe pathological changes including ballooned neurons and neuronophagia were found not only in themotor nerve nuclei but also in the thalamic, cerebellar, and brainstem nuclei as well as in the dorsal root ganglia. Direct DNA analysis showed the presence of chimeric SMN gene, with a rearrangment occurring between exon 7 of the centromeric SMN gene and exon 8 of the telomeric SMN gene. Circumstantial evidence suggests that only a single copy of this gene is present, with transciriptional characeristics of a centromeric SMN gene. In addition, a homozygous deletion in the NAIP genes was demonstrated. This observation demonstrates that at least some cases with fetal hypokinesia and SMA may represent the severe end of a spectrum of disorders caused by deletions in the SMA locus on chromosome 5q13. In addition, these findigns are compatible with a modifying role for the centromeric SMN genes and the NAIP genes in the severitiy of the SMA phenotype.