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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)286-291
Number of pages6
JournalNeuromuscular Disorders
Volume12
Issue number3
DOIs
Publication statusPublished - 2002

Keywords

  • Charcot-Marie-Tooth disease type 2B
  • Hereditary motor and sensory neuropathy type IIB
  • Hereditary sensory neuropathy type I
  • Ulcero-mutilating neuropathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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    Bellone, E., Rodolico, C., Toscano, A., Di Maria, E., Cassandrini, D., Pizzuti, A., Pigullo, S., Mazzeo, A., Macaione, V., Girlanda, P., Vita, G., Ajmar, F., & Mandich, P. (2002). 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. Neuromuscular Disorders, 12(3), 286-291. https://doi.org/10.1016/S0960-8966(01)00282-6