Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lowe
Severe vincristine neuropathy in charcot-marie-tooth disease type 1A
✍ Scribed by William D. Graf; Phillip F. Chance; M. William Lensch; Lilly J. Eng; Hillary P. Lipe; Thomas D. Bird
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 566 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0008-543X
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✦ Synopsis
BACKGROUND.
A general predisposition for vincristine-related neuropathy has been observed in persons with a family history of hereditary neuropathies.
METHODS.
In a retrospective case series, we investigated the possible association between the DNA rearrangement found in patients with Charcot-Marie-Tooth Disease Type 1A (CMTlA) and susceptibility to the neurotoxicity of vincristine. In selected patients and family members, we performed electrodiagnostic studies and analyzed DNA samples for 17~11.2-12 duplication associated with CMTlA.
RESULTS.
We describe three families with autosomal dominant CMT1, among whom a family member with a neoplastic disease suffered rapid onset, severe neuropathy after receiving initial doses of vincristine as a part of a routine chemotherapy protocol. All three families had at least one affected family member with 17~11.2-12 duplication.
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