Calpainopathy: how broad is the spectrum of clinical variability? - PubMed (original) (raw)

Calpainopathy: how broad is the spectrum of clinical variability?

Alessandra Starling et al. J Mol Neurosci. 2003.

Abstract

Five affected siblings were referred with a probable diagnosis of proximal adult-type spinal muscular atrophy (SMA) based on lower motor neuron signs (muscle weakness and atrophy, hypotony, hypoactive or absent reflexes, and fasciculations), normal or borderline serum creatine kinase levels, and a neurogenic pattern on electromyography, compatible with motor neuron disease, in one patient. No exon 7-8 deletion in the survival motor neuron (SMN) gene was found. Linkage analysis excluded the SMN and all known autosomal recessive limb girdle muscular dystrophy loci, with the exception of LGMD-2A. A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy. This family suggests that the clinical spectrum of calpainopathy might be broader and that this diagnosis might be considered in patients with an atypical motor neuron disease.

PubMed Disclaimer

Similar articles

• Different entities of proximal spinal muscular atrophy within one family.
  Wirth B, Tessarolo D, Hahnen E, Rudnik-Schöneborn S, Raschke H, Liguori M, Giacanelli M, Zerres K. Wirth B, et al. Hum Genet. 1997 Oct;100(5-6):676-80. doi: 10.1007/s004390050572. Hum Genet. 1997. PMID: 9341891
• Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
  Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B. Sun Y, et al. Hum Mutat. 2005 Jan;25(1):64-71. doi: 10.1002/humu.20111. Hum Mutat. 2005. PMID: 15580564
• Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.
  Gambardella A, Mazzei R, Toscano A, Annesi G, Pasqua A, Annesi F, Quattrone F, Oliveri RL, Valentino P, Bono F, Aguglia U, Zappia M, Vita G, Quattrone A. Gambardella A, et al. Ann Neurol. 1998 Nov;44(5):836-9. doi: 10.1002/ana.410440522. Ann Neurol. 1998. PMID: 9818944
• An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
  Wirth B. Wirth B. Hum Mutat. 2000;15(3):228-37. doi: 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10679938 Review.
• Genetic testing and risk assessment for spinal muscular atrophy (SMA).
  Ogino S, Wilson RB. Ogino S, et al. Hum Genet. 2002 Dec;111(6):477-500. doi: 10.1007/s00439-002-0828-x. Epub 2002 Oct 3. Hum Genet. 2002. PMID: 12436240 Review.

Cited by

• SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain.
  Walker MP, Rajendra TK, Saieva L, Fuentes JL, Pellizzoni L, Matera AG. Walker MP, et al. Hum Mol Genet. 2008 Nov 1;17(21):3399-410. doi: 10.1093/hmg/ddn234. Epub 2008 Aug 8. Hum Mol Genet. 2008. PMID: 18689355 Free PMC article.
• Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
  Park HJ, Jang H, Lee JH, Shin HY, Cho SR, Park KD, Bang D, Lee MG, Kim SM, Lee JH, Choi YC. Park HJ, et al. Yonsei Med J. 2016 Jan;57(1):173-9. doi: 10.3349/ymj.2016.57.1.173. Yonsei Med J. 2016. PMID: 26632398 Free PMC article.
• Neuromuscular disorders: genes, genetic counseling and therapeutic trials.
  Zatz M, Passos-Bueno MR, Vainzof M. Zatz M, et al. Genet Mol Biol. 2016 Jul-Sep;39(3):339-48. doi: 10.1590/1678-4685-GMB-2016-0019. Genet Mol Biol. 2016. PMID: 27575431 Free PMC article.
• Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.
  Cotta A, Paim JF, da-Cunha-Junior AL, Neto RX, Nunes SV, Navarro MM, Valicek J, Carvalho E, Yamamoto LU, Almeida CF, Braz SV, Takata RI, Vainzof M. Cotta A, et al. BMC Clin Pathol. 2014 Oct 4;14:41. doi: 10.1186/1472-6890-14-41. eCollection 2014. BMC Clin Pathol. 2014. PMID: 25298746 Free PMC article.
• TRPM7 regulates cell adhesion by controlling the calcium-dependent protease calpain.
  Su LT, Agapito MA, Li M, Simonson WT, Huttenlocher A, Habas R, Yue L, Runnels LW. Su LT, et al. J Biol Chem. 2006 Apr 21;281(16):11260-70. doi: 10.1074/jbc.M512885200. Epub 2006 Jan 25. J Biol Chem. 2006. PMID: 16436382 Free PMC article.

References

1. 1. Eur J Hum Genet. 2002 Dec;10(12):825-32 - PubMed
2. 1. Cell. 1995 Apr 7;81(1):27-40 - PubMed
3. 1. Curr Opin Neurol. 2000 Oct;13(5):511-7 - PubMed
4. 1. Brain. 1999 Aug;122 ( Pt 8):1403-20 - PubMed
5. 1. C R Acad Sci III. 1991;312(4):141-8 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Ovid Technologies, Inc.
  • Springer

• Medical

  • MedlinePlus Health Information