Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

Luca Passamonti, Maria Muglia, Angela Magariello, Michele Bellesi, Francesca Luisa Conforti, Rosalucia Mazzei, Alessandra Patitucci, Anna Lia Gabriele, Teresa Sprovieri, Giuseppina Peluso, Manuela Caracciolo, Emanuele Medici, Francesco Logullo, Leandro Provinciali, Aldo Quattrone

Research output: Contribution to journalArticle (Academic Journal)peer-review

Abstract

Distal hereditary motor neuronopathy is a genetically and clinically heterogeneous disorder. To date, five loci, and their relative genes, have been mapped on chromosomes 7p14, 7q11, 9q34, 11q12 and 12q24, respectively. We describe an Italian family with autosomal dominant distal HMN starting at around 30 years of age with weakness and atrophy of distal leg muscles and pyramidal features. We performed genetic linkage analysis on chromosomes 7p14, 9q34, 11q12 and 12q24. Moreover we sequenced the genes mapped to 7q11 and 12q24. Negative LOD scores excluded linkage to 7p14, 9q34, and 11q12 chromosomes in our family. No mutations were found in genes mapped to 7q11 and 12q24. In addition, because of pyramidal features, we performed the linkage analysis to all the known loci for autosomal dominant hereditary spastic paraparesis. The analysis was negative thus excluding a complicated form of autosomal dominant hereditary spastic paraparesis. These data further confirm a genetic heterogeneity within inherited motor neuronopathy.

Original languageEnglish
Pages (from-to)705-10
Number of pages6
JournalNeuromuscular Disorders
Volume14
Issue number11
DOIs
Publication statusPublished - Nov 2004

Keywords

  • Adult
  • Age of Onset
  • Aged
  • Chromosome Mapping/methods
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 7
  • DNA Mutational Analysis/methods
  • Family Health
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage/physiology
  • Hereditary Sensory and Motor Neuropathy/genetics
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Neural Conduction/genetics
  • Pedigree
  • Peripheral Nerves/physiopathology
  • RNA, Messenger/biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction/methods

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