PMID: 9535131Apr 16, 1998Paper

Cerebellar neurodegeneration in human hereditary DNA repair disorders

Neuroscience Letters
T KohjiM Oda

Abstract

Recent findings have focused attention on the role of apoptosis in neurodegenerative diseases, however, the apoptotic process in child-onset brain disorders has been little investigated. Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are hereditary disorders characterized by impaired DNA repair and neurodegeneration. We investigated apoptotic cell death in the cerebellum of five cases of XP group A (XPA), four cases of CS, and twelve controls, using TdT-mediated DIG-dUTP nick-end labeling (TUNEL) and immunohistochemical staining for bcl-2, bcl-x, p53, bax, BDNF and Trk B. The TUNEL-positive cells were found in the granule cells of the cerebellar cortex of two patients with XPA and two patients with CS, whereas such cells were not detected in the cerebellar cortex in controls. Upregulation of bcl-2 or BDNF was not observed, and bcl-x expression was not altered. Some patients showed nuclear expression of p53 in the granule cells and/or molecular layer, bax-positive glial cells in the cerebellar white matter, and a few Trk B-positive cells in the granular layer. These findings suggest that apoptotic cell death can be involved in the cerebellar degeneration in patients with hereditary defects in DNA repair mechanisms.

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Citations

Mar 12, 2004·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Anand K KondapiK Subba Rao
Jul 21, 1999·Brain & Development·M ItohM Oda
Jan 22, 2009·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Masaharu Hayashi
Nov 10, 2006·Journal of Child Neurology·Isabelle RapinDennis W Dickson
Nov 1, 2001·Proceedings of the National Academy of Sciences of the United States of America·M MuraiH Hatanaka
Jan 19, 2007·Proceedings of the National Academy of Sciences of the United States of America·R R LaposaJ E Cleaver
May 10, 2011·Progress in Neurobiology·Dennis Kjølhede JeppesenTinna Stevnsner
Aug 4, 2009·Mechanisms of Ageing and Development·Karen M WeidenheimIsabelle Rapin
Jun 10, 2008·Mechanisms of Ageing and Development·Laura J Niedernhofer
Sep 1, 2004·Brain Research. Molecular Brain Research·Elizabeth JacobsenYung Chang
Dec 17, 2014·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Hiroaki MiyaharaKenji Ihara
Aug 13, 2002·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Christian Lesuisse, Lee J Martin
Dec 14, 2017·The Journal of Cell Biology·Shalaka Chitale, Holger Richly
Mar 30, 2001·Cell Death and Differentiation·R S Morrison, Y Kinoshita
Nov 13, 2004·Journal of Neuropathology and Experimental Neurology·Masaharu HayashiKimiko Tamagawa
Apr 18, 2001·Journal of Neuropathology and Experimental Neurology·M HayashiM Oda

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