Acta Neuropathologica Communications (Jun 2020)
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
Affiliations
- Rie Saito
- Department of Pathology, Brain Research Institute, Niigata University
- Hiroshi Shimizu
- Department of Pathology, Brain Research Institute, Niigata University
- Takeshi Miura
- Department of Neurology, Sado General Hospital
- Norikazu Hara
- Department of Molecular Genetics, Brain Research Institute, Niigata University
- Naomi Mezaki
- Department of Neurology, Sado General Hospital
- Yo Higuchi
- Department of Neurology, Brain Research Institute, Niigata University
- Akinori Miyashita
- Department of Molecular Genetics, Brain Research Institute, Niigata University
- Izumi Kawachi
- Department of Neurology, Brain Research Institute, Niigata University
- Kazuhiro Sanpei
- Department of Neurology, Sado General Hospital
- Yoshiaki Honma
- Department of Neurology, Sado General Hospital
- Osamu Onodera
- Department of Neurology, Brain Research Institute, Niigata University
- Takeshi Ikeuchi
- Department of Molecular Genetics, Brain Research Institute, Niigata University
- Akiyoshi Kakita
- Department of Pathology, Brain Research Institute, Niigata University
- DOI
- https://doi.org/10.1186/s40478-020-00945-2
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 5
Abstract
No abstracts available.Keywords
- Oculopharyngodistal myopathy
- Neuronal intranuclear inclusion disease
- Oculopharyngeal myopathy with leukoencephalopathy
- Noncoding CGG expansions
- Neuropathology