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Juvenile autophagic vacuolar myopathy- a new entity or variant?
MedLine Citation:
PMID:  23324055     Owner:  NLM     Status:  Publisher    
Autophagic vacuolar myopathies (AVM) comprise a heterogeneous cluster of diseases. These include lysosomal storage disease with or without abnormal acid maltase activity such as glycogen storage disease (GSD) type II (OMIM 232300) and lysosomal membrane protein LAMP-2-deficient Danon disease (OMIM 300257) [1] caused by mutations in the LAMP2 gene (OMIM 309060). X-linked myopathy with excessive autophagy (XMEA; OMIM 310440), infantile AVM (OMIM 609500) and adult onset AVM with multi-organ involvement are also included in the spectrum of AVMs [2-5]. These latter diseases demonstrate distinct pathomorphological features, including vacuoles with autophagy-associated proteins and immunoreactivity for a multitude of sarcolemmal proteins (e.g. dystrophin, β-spectrin, dysferlin, caveolin-3, sarcoglycans), prominent acetylcholine esterase (AChE) activity, and complement deposition [3, 6]. Particularly in XMEA, ultrastructural evidence of intravacuolar debris associated with multiplication of the basal lamina and fusion of the vacuoles with the sarcolemma have been described as specific hallmarks for the disease, suggesting an aberrant exocytotic process [2, 6]. Furthermore, the VMA21 gene on chromosome Xq28, which encodes a chaperone for assembly of lysosomal vacuolar ATPase has been established as responsible for XMEA (Ramachandran et al., article in press DOI: 10.1007/s00401-012-1073-6). It is likely that AVMs share a common pathomechanism related to a dysfunctional autophagosomal machinery [1, 6].
Werner Stenzel; Ichizo Nishino; Arpad von Moers; Mahdi A Kadry; Dieter Glaeser; Frank L Heppner; Hans-Hilmar Goebel
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-17
Journal Detail:
Title:  Neuropathology and applied neurobiology     Volume:  -     ISSN:  1365-2990     ISO Abbreviation:  Neuropathol. Appl. Neurobiol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7609829     Medline TA:  Neuropathol Appl Neurobiol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 The Authors. Neuropathology and Applied Neurobiology © 2013 British Neuropathological Society.
Department of Neuropathology, Charité - Universitätsmedizin, Berlin, Germany.
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