Novel CLN3 mutation causing autophagic vacuolar myopathy

Andrea Cortese, Arianna Tucci, Giovanni Piccolo, Carlo A. Galimberti, Pietro Fratta, Enrico Marchioni, Gianpiero Grampa, Cristina Cereda, Gaetano Grieco, Ivana Ricca, Alan Pittman, Patrizia Ciscato, Laura Napoli, Valeria Lucchini, Michela Ripolone, Raffaella Violano, Gigliola Fagiolari, Sara E. Mole, John Hardy, Arrigo MogliaMaurizio Moggio

Research output: Contribution to journalArticlepeer-review


Objective: To identify the genetic cause of a complex syndrome characterized by autophagic vacuolar myopathy (AVM), hypertrophic cardiomyopathy, pigmentary retinal degeneration, and epilepsy. Methods: Clinical, pathologic, and genetic study. Results: Two brothers presented with visual failure, seizures, and prominent cardiac involvement, but only mild cognitive impairment and no motor deterioration after 40 years of disease duration. Muscle biopsy revealed the presence of widespread alterations suggestive of AVM with autophagic vacuoles with sarcolemmal features. Through combined homozygosity mapping and exome sequencing, we identified a novel p.Gly165Glu mutation in CLN3. Conclusions: This study expands the clinical phenotype of CLN3 disease. Genetic testing for CLN3 should be considered in AVM with autophagic vacuoles with sarcolemmal features.

Original languageEnglish
Pages (from-to)2072-2076
Number of pages5
Issue number23
Publication statusPublished - Jun 10 2014

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)


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