Acta Neuropathologica

, Volume 109, Issue 4, pp 411–417

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

  • Alexandra Vrabie
  • Lev G. Goldfarb
  • Alexey Shatunov
  • Andrea Nägele
  • Peter Fritz
  • Ingo Kaczmarek
  • Hans H. Goebel
Regular Paper

DOI: 10.1007/s00401-005-0980-1

Cite this article as:
Vrabie, A., Goldfarb, L.G., Shatunov, A. et al. Acta Neuropathol (2005) 109: 411. doi:10.1007/s00401-005-0980-1

Abstract

A 52-year-old man, who had developed distal muscle weakness in legs and arms, was found to have distal muscle atrophy as well as cardiac arrhythmia. His 10-year younger brother developed restrictive cardiomyopathy at the age of 20 years, which required cardiac transplantation at the age of 41 years. Skeletal muscle biopsy specimens of the older brother revealed granulofilamentous material and plaques containing numerous proteins, foremost desmin, as did cardiac biopsy tissue. The explanted heart of the younger brother showed similar protein-rich plaques and granulofilamentous material within cardiac myocytes. A novel heterozygous Glu245Asp (E245D) missense mutation in exon 3 of the desmin gene (DES) at 2q35 was found in the older brother. While clinical data and muscle biopsy pathology of the older brother conform to the nosological spectrum of desminopathies, the early-onset cardiomyopathy, a similar cardiac pathology as in skeletal muscle tissues and a novel missense mutation in the DES gene, enlarge the nosological spectrum of desminopathies.

Keywords

Desminopathy Desmin mutation Granulofilamentous material Cardiomyopathy Skeletal myopathy 

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Alexandra Vrabie
    • 1
  • Lev G. Goldfarb
    • 2
  • Alexey Shatunov
    • 2
  • Andrea Nägele
    • 3
  • Peter Fritz
    • 4
  • Ingo Kaczmarek
    • 5
  • Hans H. Goebel
    • 1
  1. 1.Department of NeuropathologyJohannes Gutenberg University Medical CenterMainzGermany
  2. 2.National Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesdaUSA
  3. 3.Department of NeurologyChristophsbadGöppingenGermany
  4. 4.Department of PathologyRobert Bosch HospitalStuttgartGermany
  5. 5.Department of Cardiac and Thoracic SurgeryLudwig Maximillian UniversityMunichGermany

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