The cerebro-morphological fingerprint of a progeroid syndrome: White matter changes correlate with neurological symptoms in xeroderma pigmentosum

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Kassubek, Jan ^a   Sperfeld, Anne Dorte ^a   Pinkhardt, Elmar H ^a   Unrath, Alexander ^a   Müller, Hans Peter ^a   Scharffetter Kochanek, Karin ^a   Ludolph, Albert C ^a   Berneburg, Mark ^b  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BRAIN REGION; BRAIN SIZE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; DEMENTIA; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MYOCLONUS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PERIPHERAL NEUROPATHY; PHENOTYPE; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR DISORDER; PYRAMIDAL SIGN; PYRAMIDAL TRACT; SCHOOL CHILD; SEIZURE; SHORT STATURE; SPINOCEREBELLAR DEGENERATION; SYMPTOMATOLOGY; THALAMUS; WHITE MATTER; XERODERMA PIGMENTOSUM; ADOLESCENT; ANISOTROPY; BRAIN; CASE CONTROL STUDY; HABIT; HIPPOCAMPUS; MIDDLE AGED; NUTRITIONAL STATUS; PATHOLOGY; PRESCHOOL CHILD; PROGERIA; SEXUAL DEVELOPMENT; SYNDROME;

ADOLESCENT; ADULT; AGED; ANISOTROPY; CASE-CONTROL STUDIES; CEREBRUM; CHILD; CHILD, PRESCHOOL; DIFFUSION TENSOR IMAGING; FEMALE; HABITS; HIPPOCAMPUS; HUMANS; MALE; MIDDLE AGED; NUTRITIONAL STATUS; PROGERIA; SEX CHARACTERISTICS; SYNDROME; THALAMUS; XERODERMA PIGMENTOSUM; YOUNG ADULT;

EID: 84857398751     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0030926     Document Type: Article

References (37)

1. Berneburg M, Lehmann AR, (2001) Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription. Adv Genet 43: 71-102.
2. Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, et al. (2006) A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature 444: 1038-1043.
3. Niedernhofer LJ, (2008) Tissue-specific accelerated aging in nucleotide excision repair deficiency. Mech Ageing Dev 129: 408-415.
4. Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, et al. (2008) Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 7: 744-750.
5. Emmert S, Slor H, Busch DB, Batko S, Albert RB, et al. (2002) Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol 118: 972-982.
6. Kraemer KH, Lee MM, Scotto J, (1987) Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123: 241-250.
7. DeSanctis C, Cacchione A, (1932) L' Idiozia xerodermica. Riv Sperm pp. 269-292.
8. Cleaver JE, (1968) Defective repair replication of DNA in xeroderma pigmentosum. Nature 218: 652-656.
9. Rao KS, (2007) DNA repair in aging rat neurons. Neuroscience 145: 1330-1340.
10. Robbins JH, Brumback RA, Mendiones M, Barrett SF, Carl JR, et al. (1991) Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain 114 (Pt 3): 1335-1361.
11. Bootsma D, (2001) The "Dutch DNA Repair Group", in retrospect. Mutat Res 485: 37-41.
12. Hayashi M, Araki S, Kohyama J, Shioda K, Fukatsu R, et al. (2004) Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. J Neuropathol Exp Neurol 63: 1048-1057.
13. Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, et al. (2006) Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Hum Mutat 27: 1092-1103.
14. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH, (2000) Cockayne syndrome and xeroderma pigmentosum. Neurology 55: 1442-1449.
15. Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, et al. (2008) Neurological symptoms and natural course of xeroderma pigmentosum. Brain 131: 1979-1989.
16. Giesel FL, Thomann PA, Hahn HK, Politi M, Stieltjes B, et al. (2008) Comparison of manual direct and automated indirect measurement of hippocampus using magnetic resonance imaging. Eur J Radiol 66: 268-273.
17. Ludolph AG, Pinkhardt EH, Tebartz van Elst L, Libal G, Ludolph AC, et al. (2008) Are amygdalar volume alterations in children with Tourette syndrome due to ADHD comorbidity? Dev Med Child Neurol 50: 524-529.
18. Norman G, Streiner D, (2007) Biostatistics: the bare essentials Maidenhead McGraw-Hill.
19. Muller HP, Unrath A, Sperfeld AD, Ludolph AC, Riecker A, et al. (2007) Diffusion tensor imaging and tractwise fractional anisotropy statistics: quantitative analysis in white matter pathology. Biomed Eng Online 6: 42.
20. Muller HP, Unrath A, Ludolph AC, Kassubek J, (2007) Preservation of diffusion tensor properties during spatial normalization by use of tensor imaging and fibre tracking on a normal brain database. Phys Med Biol 52: 99-109.
21. Muller HP, Unrath A, Riecker A, Pinkhardt EH, Ludolph AC, et al. (2009) Intersubject variability in the analysis of diffusion tensor images at the group level: fractional anisotropy mapping and fiber tracking techniques. Magn Reson Imaging 27: 324-334.
22. Shen Y, Larkman DJ, Counsell S, Pu IM, Edwards D, et al. (2004) Correction of high-order eddy current induced geometric distortion in diffusion-weighted echo-planar images. Magn Reson Med 52: 1184-1189.
23. Brett M, Johnsrude IS, Owen AM, (2002) The problem of functional localization in the human brain. Nat Rev Neurosci 3: 243-249.
24. Grewal RP, (1999) Neurodegeneration in Xeroderma Pigmentosum: a trinucleotide repeat mutation analysis. J Neurol Sci 163: 183-186.
25. Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, et al. (2001) Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol 5: 225-242.
26. Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, et al. (2007) Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 145: 1388-1396.
27. Faghri S, Tamura D, Kraemer KH, Digiovanna JJ, (2008) Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet 45: 609-621.
28. Kobayashi T, Kuraoka I, Saijo M, Nakatsu Y, Tanaka A, et al. (1997) Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. Hum Mutat 9: 322-331.
29. Yamamura K, Ichihashi M, Hiramoto T, Ogoshi M, Nishioka K, et al. (1989) Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: a review of cases from Japan. Br J Dermatol 121: 471-480.
30. Chio A, Cocito D, Bottacchi E, Buffa C, Leone M, et al. (2007) Idiopathic chronic inflammatory demyelinating polyneuropathy: an epidemiological study in Italy. J Neurol Neurosurg Psychiatry 78: 1349-1353.
31. Gaist D, Garcia Rodriguez LA, Huerta C, Hallas J, Sindrup SH, (2001) Are users of lipid-lowering drugs at increased risk of peripheral neuropathy? Eur J Clin Pharmacol 56: 931-933.
32. Kanda T, Oda M, Yonezawa M, Tamagawa K, Isa F, et al. (1990) Peripheral neuropathy in xeroderma pigmentosum. Brain 113 (Pt 4): 1025-1044.
33. Petit-Frère C, Capulas E, Lowe JE, Koulu L, Marttila RJ, et al. (2000) Ultraviolet-B-induced apoptosis and cytokine release in xeroderma pigmentosum keratinocytes. J Invest Dermatol 115: 687-93.
34. Brooks PJ, (2007) The case for 8,5′-cyclopurine-2′-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum. Neuroscience 145: 1407-17.
35. Kirkwood TB, (2005) Understanding the odd science of aging. Cell 120: 437-447.
36. Ljungman M, Lane DP, (2004) Transcription- guarding the genome by sensing DNA damage. Nat Rev Cancer 4: 727-737.
37. Rass U, Ahel I, West SC, (2007) Defective DNA repair and neurodegenerative disease. Cell 130: 991-1004.