Accumulation of phosphorylated TDP‐43 in the CNS of a patient with Cockayne syndrome. Issue 6 (14th April 2013)

• Record Type: Journal Article
• Authors: Sakurai, Atsushi; Makioka, Kouki; Fukuda, Toshio; Takatama, Masamitsu; Okamoto, Koichi
• Is Part Of: Neuropathology. Volume 33:Issue 6(2013)
• Page Start: 673
• Page End: 677
• Publication Date: 2013-04-14
• Subjects: Nervous system -- Diseases -- Periodicals; Nervous system -- Pathophysiology -- Periodicals; 616.8047
• DOI: 10.1111/neup.12038
• Languages: English
• ISSNs: 0919-6544

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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.</p> </abstract>