Calpainopathy: How broad is the spectrum of clinical variability?

Authors: Starling, Alessandra¹; Paula, Flavia¹; Silva, Helga¹; Vainzof, Mariz¹; Zatz, Mayana²

Source: Journal of Molecular Neuroscience, Volume 21, Number 3, October 2003 , pp. 233-236(4)

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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 recessivelimb 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.

Keywords: Atypical calpainopathy; spinal muscular atrophy; inclusion criteria

Document Type: Research article

DOI: http://dx.doi.org/10.1385/JMN:21:3:233

Affiliations: 1: Human Genome Research Center, Department of Biology, University of São Paulo, São Paulo, Brazil, 2: Human Genome Research Center, Department of Biology, University of São Paulo, São Paulo, Brazil, Email: mayazatz@usp.br

Publication date: 2003-10-01