A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

Serenella Servidei, F. Capon, A. Spinazzola, M. Mirabella, S. Semprini, G. De Rosa, M. Gennarelli, F. Sangiuolo, E. Ricci, H. W. Mohrenweiser, B. Dallapiccola, P. Tonali, G. Novelli

Research output: Contribution to journalArticlepeer-review


Objective: To characterize a kindred with a distinctive autosomal dominant neuromuscular disorder. Background: The authors studied a large Italian family affected by a progressive neuromyopathy. Ten individuals over three generations were affected. The disease was characterized by onset from the late teens to early 50s with distal leg weakness and atrophy, development of generalized muscle weakness with distal-to-proximal progression sparing facial and ocular muscles, dysphonia and dysphagia, pes cavus and areflexia, variable clinical expression ranging from subclinical myopathy to severely disabling weakness, and mixed neurogenic and myopathic abnormalities on electromyography. Methods: Morphologic, immunocytochemical, and ultrastructural studies were performed in muscle biopsies from three affected patients. A genome-wide linkage analysis through the genotyping of 292 microsatellite markers spanning the 22 autosomes was undertaken to map the disorder segregating in this family. Results: All muscle biopsies showed variation of fiber size, panesterase-positive angular fibers, mild to severe fibrosis, and numerous 'rimmed vacuoles.' Electron microscopy failed to demonstrate the nuclear or cytoplasmic filamentous inclusions specific of inclusion-body myopathies and, accordingly, immunohistochemistry did not show any positivity with SMI-31 antibodies detecting hyperphosphorylated tau. Preliminary analysis of 292 microsatellite markers provided evidence for linkage to chromosome 19p13. Conclusions: This distinctive autosomal dominant disorder is characterized by a vacuolar neuromyopathy. Localization to chromosome 19p13 will allow the genetic relationship between this disease and inherited myopathies with rimmed vacuoles, in particular autosomal dominant inclusion-body myopathies, to be defined.

Original languageEnglish
Pages (from-to)830-837
Number of pages8
Issue number4
Publication statusPublished - Sep 11 1999


  • Autosomal dominant vacuolar neuromyopathy
  • Linkage
  • Rimmed vacuoles

ASJC Scopus subject areas

  • Neuroscience(all)


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