Accumulation of phosphorylated TDP-43 in the CNS of a patient with cockayne syndrome

Neuropathology

Volumn 33, Issue 6, 2013, Pages 673-677

  Sakurai, Atsushi ^a,d   Makioka, Kouki ^a   Fukuda, Toshio ^b   Takatama, Masamitsu ^c   Okamoto, Koichi ^a  

^a GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b GUNMA UNIVERSITY   (Japan)

^c GERIATRICS RESEARCH INSTITUTE AND HOSPITAL   (Japan)

^d Department of Neurology Hanna Sawarabi Ryoikuen ^*  (Japan)

Author keywords

Astrocyte; Cockayne syndrome; Immunohistochemistry; Rosenthal fiber; TDP 43

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN; MICROTUBULE ASSOCIATED PROTEIN 2; MYELIN; PROTEIN ANTIBODY; TAR DNA BINDING PROTEIN;

ADULT; ARTICLE; ASPIRATION PNEUMONIA; ASTROCYTE; ASTROCYTOSIS; ATAXIA; AUTOPSY; BODY WEIGHT; BRAIN DEGENERATION; BRAIN STEM; CACHEXIA; CASE REPORT; CAUSE OF DEATH; CELL INCLUSION; CENTRAL NERVOUS SYSTEM; CEREBELLUM CORTEX; CERVICAL DYSTONIA; COCKAYNE SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; CONFOCAL MICROSCOPY; CONVULSION; DENTAL CARIES; DWARFISM; DYSARTHRIA; DYSPHAGIA; EMACIATION; ENTERIC FEEDING; FACIES; FOOT MALFORMATION; GAIT DISORDER; GROWTH DISORDER; HAND MALFORMATION; HAND TREMOR; HEARING IMPAIRMENT; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; INFERIOR OLIVE; JAPANESE; JOINT CONTRACTURE; LATERAL BRAIN VENTRICLE; LENTIGO; MALE; MENTAL DEFICIENCY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NYSTAGMUS; PHOTOSENSITIVITY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROGERIA; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN STRUCTURE; PSYCHOMOTOR RETARDATION; PYRAMIDAL SIGN; RESPIRATORY FAILURE; ROSENTHAL FIBER; SCOLIOSIS; SKIN FIBROBLAST; SMOOTH PURSUIT EYE MOVEMENT; SPINAL CORD ATROPHY; SUBVENTRICULAR ZONE; SURVIVAL; TRACHEAL HEMORRHAGE; TRACHEOSTOMY; ULTRAVIOLET IRRADIATION; WHITE MATTER LESION;

ASTROCYTE; COCKAYNE SYNDROME; IMMUNOHISTOCHEMISTRY; ROSENTHAL FIBER; TDP-43;

ADOLESCENT; ADULT; AGE OF ONSET; ASTROCYTES; BRAIN; CHILD; CHILD, PRESCHOOL; COCKAYNE SYNDROME; DNA-BINDING PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; INCLUSION BODIES; MALE; PHOSPHORYLATION; TDP-43 PROTEINOPATHIES; YOUNG ADULT;

EID: 84897037925     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12038     Document Type: Article

References (23)

1. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68-84.
2. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH. Cockayne syndrome and xeroderma pigmentosum. Neurology 2000; 55: 1442-1449.
3. Rapin I, Weidenheim K, Lindenbaum Y etal. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol 2006; 21: 991-1006.
4. Pasquier L, Laugel V, Lazaro L etal. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Arch Dis Child 2006; 91: 178-182.
5. Weidenheim KM, Dickson DW, Rapin I. Neuropahology of Cockayne syndrome: evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev 2009; 130: 619-636.
6. Hayashi M, Miwa-Saito N, Tamura N, Kubota M. Brain vascular changes in Cockayne syndrome. Neuropathology 2012; 32: 113-117.
7. Buratti E, Dörk T, Zuccato E, Pagani F, Romano M, Baralle FE. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001; 20: 1774-1784.
8. Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci 2008; 13: 867-878.
9. Mizuno Y, Fujita Y, Takatama M, Okamoto K. Comparison of phosphorylated TDP-43-positive inclusions in oculomotor neurons in patients with non-ALS and ALS disorders. J Neurol Sci 2012; 315: 20-25.
10. Neumann M, Sampathu DM, Kwong LK etal. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133.
11. Arai T, Mackenzie IRA, Hasegawa M etal. Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies. Acta Neuropathol 2009; 117: 125-136.
12. Amador-Ortiz C, Lin W-L, Ahmed Z etal. TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 2007; 61: 435-445.
13. Hasegawa M, Arai T, Akiyama H etal. TDP-43 is deposited in the Guam parkinsonism-dementia complex brains. Brain 2007; 130: 1386-1394.
14. Tan C-F, Yamada M, Toyoshima Y etal. Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado-Joseph disease. Acta Neuropathol 2009; 118: 553-560.
15. Schwab C, Arai T, Hasegawa M, Yu S, McGeer PL. Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington disease. J Neuropathol Exp Neurol 2008; 67: 1159-1165.
16. Fujishiro H, Uchikado H, Arai T etal. Accumulation of phosphorylated TDP-43 in brains of patients with argyrophilic grain disease. Acta Neuropathol 2009; 117: 151-158.
17. McKee AC, Gavett BE, Stern RA etal. TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy. J Neuropathol Exp Neurol 2010; 69: 918-929.
18. Kadokura A, Yamazaki T, Kakuda S etal. Phosphorylation-dependent TDP-43 antibody detects intraneuronal dot-like structures showing morphological characters of granulovacuolar degeneration. Neurosci Lett 2009; 463: 87-92.
19. Soffer D, Grotsky HW, Rapin I, Suzuki K. Cockayne syndrome: unusual neuropathological findings and review of the literature. Ann Neurol 1979; 6: 340-348.
20. Kennedy RM, Rowe VD, Kepes JJ. Cockayne syndrome: an atypical case. Neurology 1980; 30: 1268-1272.
21. Miyauchi H, Horio T, Akaeda T etal. Cockayne syndrome in two adult siblings. J Am Acad Dermatol 1994; 30: 329-335.
22. Lin W-L, Castanedes-Casey M, Dickson DW. Trans-activation response (TAR) DNA-binding protein 43 (TDP-43) microvasculopathy in frontotemporal degeneration and familial Lewy body disease. J Neuropathol Exp Neurol 2009; 68: 1167-1176.
23. Seidel K, den Dunnen WFA, Schultz C etal. Axonal inclusions in spinocerebellar ataxia type 3. Acta Neuropathol 2010; 120: 449-460.