A Family With Autosomal Dominant Mutilating Neuropathy Not Linked To Either Charcot‐Marie‐Tooth Disease Type 2B (CMT2B) or Hereditary Sensory Neuropathy Type I (HSN I) LOCI
Sensory loss and ulcero‐mutilating features have been observed in hereditary sensory neuropathy type I and in her‐ editary motor and sensory neuropathy type IIB, also referred as Charcot‐Marie‐Tooth disease type 2B. To date two loci associated with ulcero‐mutilating, neuropathy have been described: CMT2B at 3q13‐q22 and HSN I at 9q22.1‐q22.3. We performed linkage analysis with chromosomal markers representing the hereditary sensory neuropathy type I and Charcot‐Marie‐Tooth disease type 213 loci on an Italian family with a severe distal sensory loss leading to an ulcero‐mutilating peripheral neuropathy. Negative likelihood‐of‐odds scores excluded any evidence of linkage to both chromosome 3q13 and chromosome 9q22 markers, confirming the genetic heterogeneity of this clinical entity and the presence of a third locus responsible for ulcero‐mutilating neuropathies.
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Document Type: Research Article
Publication date: September 1, 2002