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; Hiroshi Shimizu; Takeshi Miura; Norikazu Hara; Naomi Mezaki; Yo Higuchi; Akinori Miyashita; Izumi Kawachi; Kazuhiro Sanpei; Yoshiaki Honma; Osamu Onodera; Takeshi Ikeuchi; Akiyoshi Kakita

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

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

Authors

Rie Saito¹, Hiroshi Shimizu², Takeshi Miura^{3

4}, Norikazu Hara⁵, Naomi Mezaki^{3

4}, Yo Higuchi^{4

5}, Akinori Miyashita⁵, Izumi Kawachi^{4

6}, Kazuhiro Sanpei³, Yoshiaki Honma³, Osamu Onodera⁴, Takeshi Ikeuchi⁵, Akiyoshi Kakita¹

Affiliations

¹ Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
² Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan. hshimizu@bri.niigata-u.ac.jp.
³ Department of Neurology, Sado General Hospital, Niigata, Japan.
⁴ Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
⁵ Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
⁶ Comprehensive Medical Education Center, Niigata University School of Medicine, Niigata, Japan.

No abstract available

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

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Intranuclear Inclusion Bodies / genetics
Intranuclear Inclusion Bodies / pathology
Low Density Lipoprotein Receptor-Related Protein-1 / genetics*
Male
Muscle, Skeletal / pathology
Muscular Dystrophies / complications
Muscular Dystrophies / genetics*
Muscular Dystrophies / pathology*
Neurodegenerative Diseases / complications
Neurodegenerative Diseases / genetics*
Neurodegenerative Diseases / pathology*
Pedigree
Trinucleotide Repeat Expansion

Substances

LRP12 protein, human
Low Density Lipoprotein Receptor-Related Protein-1

Supplementary concepts

Neuronal intranuclear inclusion disease
Oculopharyngodistal Myopathy