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- Title
Accumulation of phosphorylated TDP-43 in the CNS of a patient with Cockayne syndrome.
- Authors
Sakurai, Atsushi; Makioka, Kouki; Fukuda, Toshio; Takatama, Masamitsu; Okamoto, Koichi
- Abstract
Here, we report a case of Cockayne syndrome ( CS) in a Japanese man who displayed a unique pathology of phosphorylated trans-activation response (TAR) DNA-binding protein 43 ( pTDP-43) with abundant Rosenthal fibers. Many round pTDP-43-positive structures were detected throughout the CNS; however, most of them were located in two regions that also exhibited neuronal depletion: the cerebellar cortex and the inferior olivary nucleus. To a lesser extent, these aggregates were also present in the cerebellar white matter, around the subependymal regions in the brain stem, and in the spinal cord. Intraneuronal pTDP-43 inclusions were only observed in a small number of neurons in the inferior olivary nucleus. Double-label immunofluorescence revealed that many of the aggregates were localized to astrocytes. The observed distribution and the morphology of the pTDP-43-positive structures were unique and have not yet been reported. Therefore, a pTDP-43-related pathology may be implicated in CS as well as in other neurodegenerative diseases such as frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Whether the pathology of these diseases reflects a primary neurodegenerative process or a secondary reaction is not known.
- Subjects
COCKAYNE syndrome; DNA-binding proteins; CEREBELLAR cortex; NEURODEGENERATION; OLIVARY nucleus; WHITE matter (Nerve tissue); ASTROCYTES; JAPANESE people
- Publication
Neuropathology, 2013, Vol 33, Issue 6, p673
- ISSN
0919-6544
- Publication type
Article
- DOI
10.1111/neup.12038