Bellone Emilia, Rodolico Carmelo, Toscano Antonio, Di Maria Emilio, Cassandrini Denise, Pizzuti Antonio, Pigullo Simona, Mazzeo Anna, Macaione Vincenzo, Girlanda Paolo, Vita Giuseppe, Ajmar Franco, Mandich Paola
Department of Oncology, Biology and Genetics, University of Genoa, Viale Benedetto XV, 6-16132 Genoa, Italy.
Neuromuscul Disord. 2002 Mar;12(3):286-91. doi: 10.1016/s0960-8966(01)00282-6.
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.
