Abstract
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in GNE are pathogenic and this clinical phenotype can be difficult to differentiate clinically from other late-onset myopathies. We describe two families with novel mutations in GNE, and describe their clinical and MRI features. We also describe the presence of striking paraspinal muscle involvement on MRI of the lumbar spine, which is an under-recognized feature of GNE myopathy.
Highlights
GNE myopathy is an autosomal recessive disease with an onset usually in the twenties or thirties
We describe cases of GNE myopathy having characteristic clinical and myopathological features, providing data confirming pathogenicity for two novel mutations in GNE
The amino acids altered by these novel mutations are highly conserved
Summary
GNE myopathy is an autosomal recessive disease with an onset usually in the twenties or thirties. Its characteristic onset is foot drop, which progresses to further involvement of distal and proximal muscles and characteristically sparing the quadriceps muscles [1, 2] This disease is caused by mutations in GNE. This condition was originally described as hereditary inclusion body myopathy in Jewish people of Persian descent, with a p.Met712Thr founder mutation. Since another founder mutation in Japanese patients was identified, which linked GNE-related diseases with the clinical descriptions of Nonaka myopathy and some cases of distal myopathy with rimmed vacuoles [1]. There are almost 150 known mutations associated with GNE myopathy, the vast majority of which are missense [2, 3]
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