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.

Abstract

Sensory loss and ulcero-mutilating features have been observed in hereditary sensory neuropathy type I and in hereditary 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 2B 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.

• Authors: Emilia Bellone, Carmelo Rodolico, Antonio Toscano, Emilio Di Maria, Denise Cassandrini, Antonio Pizzuti, Simona Pigullo, Anna Mazzeo, Vincenzo Macaione, Paolo Girlanda, Giuseppe Vita, Franco Ajmar, Paola Mandich
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 12 Issue 3 Pg. 286-91 (Mar 2002) ISSN: 0960-8966 [Print] England
• PMID: 11801401 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Adult
• Aged
• Charcot-Marie-Tooth Disease (genetics)
• Child
• Child, Preschool
• DNA Mutational Analysis
• Female
• Genes, Dominant
• Genetic Linkage
• Hereditary Sensory and Autonomic Neuropathies (genetics)
• Humans
• Italy
• Male
• Pedigree
• Sensation Disorders (genetics)
• Skin Ulcer (genetics)