Novel CLN3 Mutation Causing Autophagic Vacuolar Myopathy

Overview

Journal Neurology

Specialty Neurology

Date 2014 May 16

PMID 24827497

Citations 20

Authors

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 Moglia

Maurizio Moggio

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

The parent and family impact of CLN3 disease: an observational survey-based study.

Schulz A, Patel N, Brudvig J, Stehr F, Weimer J, Augustine E Orphanet J Rare Dis. 2024; 19(1):125.

PMID: 38500130 PMC: 10949783. DOI: 10.1186/s13023-024-03119-8.

Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases.

Uribe-Carretero E, Rey V, Fuentes J, Tamargo-Gomez I Biology (Basel). 2024; 13(1).

PMID: 38248465 PMC: 10813815. DOI: 10.3390/biology13010034.

Recognition and epileptology of protracted CLN3 disease.

Cameron J, Damiano J, Grinton B, Carney P, McKelvie P, Silbert P Epilepsia. 2023; 64(7):1833-1841.

PMID: 37039534 PMC: 10952944. DOI: 10.1111/epi.17616.

Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)-A Long-Term Follow-Up Study.

Handrup M, Molgaard H, Andersen B, Ostergaard J Front Neurol. 2022; 13:846240.

PMID: 35356463 PMC: 8960059. DOI: 10.3389/fneur.2022.846240.

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.

Gardner E, Mole S Front Neurol. 2021; 12:754045.

PMID: 34733232 PMC: 8558747. DOI: 10.3389/fneur.2021.754045.

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