PMID: 9192274Jun 1, 1997Paper

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease

Journal of Medical Genetics
A HanashJ Melki

Abstract

The spinal form of Charcot-Marie-Tooth disease (spinal CMT) is a rare genetic disorder of the peripheral nervous system, the genetic basis of which remains unknown. To test the hypothesis that a defect of survival motor neuron (SMN), the determining gene for spinal muscular atrophy (SMA), would result in spinal CMT, 18 unrelated spinal CMT patients were studied. Nine of them were sporadic cases and the other nine belonged to unrelated autosomal dominant pedigrees. None of the 18 patients showed deletions involving SMN exons 7 or 8, the most frequent gene alteration found in SMA. In addition, haplotype analysis in two large autosomal dominant pedigrees showed that the 5q13 locus was not segregating with the spinal CMT locus. Therefore, neither the sporadic nor the familial cases of spinal CMT are associated with a SMN gene deletion, nor are the familial cases linked to the 5q13 region, indicating that this neuropathy is genetically different from SMA.

References

Mar 1, 1980·Journal of the Neurological Sciences·A E Harding, P K Thomas
Sep 1, 1995·Human Molecular Genetics·K ChristodoulouL T Middleton
Jul 1, 1996·Human Molecular Genetics·V TimmermanC Van Broeckhoven

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Citations

Jul 13, 2002·Muscle & Nerve·Sophie NicoleJudith Melki
Dec 16, 1998·Journal of the Neurological Sciences·L P Rowland
Apr 16, 1998·Journal of Child Neurology·L P Rowland
Apr 17, 2001·Brain Pathology·H Schmalbruch, G Haase

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