In:
Annals of Clinical and Translational Neurology, Wiley, Vol. 5, No. 11 ( 2018-11), p. 1385-1393
Abstract:
The neuronal ceroid lipofuscinoses ( NCL ) are genetic degenerative disorders of brain and retina. NCL with juvenile onset ( JNCL ) is genetically heterogeneous but most frequently caused by mutations of CLN 3. Classical juvenile CLN 3 includes a rare protracted form, which has previously been linked to autophagic vacuolar myopathy ( AVM ). Our study investigates the association of AVM with classic, non‐protracted CLN 3. Methods Evaluation of skeletal muscle biopsies from three, non‐related patients with classic, non‐protracted and one patient with protracted CLN 3 disease by histology, immunohistochemistry, electron microscopy, and Sanger sequencing of the coding region of the CLN 3 gene. Results We identified a novel heterozygous CLN 3 mutation (c.1056+34C 〉 A) in one of our patients with classic, non‐protracted CLN 3 disease. The skeletal muscle of all CLN 3 patients was homogeneously affected by an AVM characterized by autophagic vacuoles with sarcolemmal features and characteristic lysosomal pathology. Interpretation Our observations show that AVM is not an exceptional phenomenon restricted to protracted CLN 3 but rather a common feature in CLN 3 myopathology. Therefore, CLN 3 myopathology should be included in the diagnostic spectrum of autophagic vacuolar myopathies.
Type of Medium:
Online Resource
ISSN:
2328-9503
,
2328-9503
DOI:
10.1002/acn3.2018.5.issue-11
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
2740696-9
