ISSN:
1432-0533
Keywords:
Key words Dejerine-Sottas disease
;
Point mutation
;
De novo mutation
;
Peripheral myelin protein 22 (PMP22)
;
Onion-bulb
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The Ser149Arg mutation of peripheral myelin protein 22 (PMP22) was found in a 19-year-old woman with a sporadic case of Dejerine-Sottas disease. The patient showed delayed motor development. She walked for the first time with support at the age of 2 years. Scoliosis developed at age 4 years. Her walking ability was best at age 11. Thereafter, she showed progressive muscle weakness and sensory disturbances in the distal extremities. At the age of 18 years, the use of a wheelchair became necessary. Motor and sensory nerve conduction studies showed absent motor and sensory responses on electrical stimulation of the limb nerves. A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination. Electron microscopic observation revealed the presence of demyelinated axons and myelin sheaths disproportionately thin relative to axon diameter. That this was a de novo mutation was established by parentage testing and PMP22 gene analysis of the parents. The mutation seems to be novel and dominant.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/PL00007446
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