A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

Muscle & Nerve
V V IonasescuR Ionasescu

Abstract

The Patient is a 55-year-old black male who belongs to a large family with 9 affected relatives with autosomal dominant Dejerine-Sottas neuropathy (DSN). Onset of his condition was at 2 years of age with steppage gait followed by severe progressive weakness, atrophy, and sensory loss of his legs and hands accompanied by areflexia and thoracolumbar kyphoscoliosis. The patient became wheelchair confined at age 38. At around age 42, the left shoulder became dislocated and the humeral head underwent aseptic necrosis (Charcot joint). Nerve conduction studies showed absent motor and sensory responses for all major nerves tested. Genetic linkage suggested mapping of this DSN gene on chromosome 8qter. A younger brother with similar neurological findings also demonstrated Charcot joints with bone destruction of the joints of the fourth and fifth fingers.

References

Aug 1, 1980·Journal of Neurology, Neurosurgery, and Psychiatry·A E Harding, P K Thomas
Jan 1, 1994·Neuromuscular Disorders : NMD·A A Gabreëls-FestenT W Janssen-van Kempen

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Citations

Jun 12, 1998·Archives of Disease in Childhood·C Bell, N Haites
Jan 25, 2008·Annals of Human Genetics·N BarisicV Timmerman
Jan 1, 1997·Muscle & Nerve·V V IonasescuR Koenigsberger
Nov 10, 2000·Current Opinion in Neurology·M M Reilly
Apr 29, 2006·European Neurology·J M Pearce
Oct 29, 2002·Muscle & Nerve·Violaine Plante-Bordeneuve, Gérard Said

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