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. 2020 Jun 3;8(1):75.
doi: 10.1186/s40478-020-00945-2.

Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12

Rie Saito  1 , Hiroshi Shimizu  2 , Takeshi Miura  3   4 , Norikazu Hara  5 , Naomi Mezaki  3   4 , Yo Higuchi  4   5 , Akinori Miyashita  5 , Izumi Kawachi  4   6 , Kazuhiro Sanpei  3 , Yoshiaki Honma  3 , Osamu Onodera  4 , Takeshi Ikeuchi  5 , Akiyoshi Kakita  1
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Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12

Rie Saito et al. Acta Neuropathol Commun. .
No abstract available

Keywords: Neuronal intranuclear inclusion disease; Neuropathology; Noncoding CGG expansions; Oculopharyngeal myopathy with leukoencephalopathy; Oculopharyngodistal myopathy.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Detection of CGG repeat expansions in LRP12.a Pedigree of the family. The individuals suffering from OPDM are indicated by solid symbols. The family shows autosomal dominant inheritance. b Repeat-primed PCR analysis using frozen frontal cortex obtained from the proband (a, III-5) demonstrates CGG repeat expansions in LRP12 (upper panel), whereas no such expansions are evident in the control (lower panel). In the proband, there were no pathological tandem repeat expansions in FMR1, NBPF19, LOC642361/NUTM2B-AS1, or PABPN1, genetically excluding the possibility of fragile X tremor/ataxia syndrome (FXTAS), neuronal intranuclear inclusion disease 1 (NIID1), oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1), or oculopharyngeal muscular dystrophy (OPMD). P, proband
Fig. 2
Fig. 2
Pathology of the skeletal muscles. a-d Rimmed vacuoles (RVs). Skeletal muscles show typical RVs on staining with HE (a) and modified Gomori trichrome (b). RVs are positive for p62 (c) and phosphorylated TDP-43 (d). e, f Intranuclear inclusions of the skeletal muscles. These inclusions were detectable only by electron microscopy (e). They had no obvious limiting membranes and were composed of straight filaments about 13–18 nm in diameter (f). a, b anterior tibial muscle, biopsy; c, d striated muscle of the esophagus, necropsy; e, f scalenus muscle, necropsy. Scale bar: a-d = 40 μm, e = 2 μm, f = 500 nm.
Fig. 3
Fig. 3
Intranuclear inclusions in extra-skeletal muscle organs. a-c Sympathetic ganglia. Two eosinophilic neuronal intranuclear inclusions with surrounding halos are evident on HE staining (a). The inclusions are positive for ubiquitin (b). Numerous inclusions are revealed by p62-immunohistochemistry (c). d A p62-positive neuronal intranuclear inclusion in the transentorhinal cortex. e A p62-positive intranuclear inclusion (green) in a GFAP-positive astrocyte (red) in the temporal cortex. Double-labeling immunofluorescence. f, g Ultrastructure of a sympathetic ganglion neuron containing an intranuclear inclusion (f, arrow). The inclusion is composed of fine filamentous structures without limiting membranes. Scale bar: a, b = 40 μm; c = 150 μm; d, e = 25 μm; f = 5 μm; g = 750 nm
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References

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