Novel CLN3 mutation causing autophagic vacuolar myopathy

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

来源：Neurology, 2014, 82(23): 2072-2076.

DOI：10.1212/WNL.0000000000000490

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.

• 出版日期2014-6-10