Advertisement

Neurological Symptoms in Xeroderma Pigmentosum

  • Fumio KandaEmail author
  • Takehiro Ueda
  • Chikako Nishigori
Chapter

Abstract

In patients with xeroderma pigmentosum (XP), especially group A (XP-A), serious neurological complications are frequently observed. During the second decade of life, the both central and peripheral nervous systems become severely deteriorated resulting in serious problems for daily activity and life expectancy. Brain MRI shows progressive atrophy in all components, such as the cerebral cortex, white matter, brainstem, and cerebellum, and nerve conduction studies reveal sensory dominant axonal neuropathy in all extremities. The precise mechanisms remain unclear and no effective treatments are available.

References

  1. 1.
    Robbins JH, Brumback RA, Mendiones M, et al. Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain. 1991;114:1335–61.CrossRefGoogle Scholar
  2. 2.
    Moriwaki S, Nishigori C, Imamura S, et al. A case of xeroderma pigmentosum complementation group F with neurological abnormalities. Br J Dermatol. 1993;128:91–4.CrossRefGoogle Scholar
  3. 3.
    Nishigori C, Moriwaki S, Takebe H, et al. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol. 1994;130:191–7.CrossRefGoogle Scholar
  4. 4.
    Anttinen A, Koulu L, Nikoskelainen E, et al. Neurological symptoms and natural course of xeroderma pigmentosum. Brain. 2008;131:1979–89.CrossRefGoogle Scholar
  5. 5.
    Nakano E, Masaki T, Kanda F, et al. The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale. Exp Dermatol. 2016;25(Suppl 3):28–33.CrossRefGoogle Scholar
  6. 6.
    Ueda T, Kanda F, Aoyama N, et al. Neuroimaging features of xeroderma pigmentosum group A. Brain Behav. 2012;2:1–5.CrossRefGoogle Scholar
  7. 7.
    Kanda T, Oda M, Yonezawa M, et al. Peripheral neuropathy in xeroderma pigmentosum. Brain. 1990;113:1025–44.CrossRefGoogle Scholar
  8. 8.
    Itoh M, Hayashi M, Shioda K, et al. Neurodegeneration in hereditary nucleotide repair disorders. Brain Dev. 1999;21:326–33.CrossRefGoogle Scholar
  9. 9.
    Hayashi M, Araki S, Kohyama J, et al. Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. J Neuropathol Exp Neurol. 2004;63:1048–57.CrossRefGoogle Scholar
  10. 10.
    Lai JP, Liu YC, Alimchandani M, et al. The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). Acta Neuropathol Commun. 2013;1:4.CrossRefGoogle Scholar
  11. 11.
    Weissman L, de Souza-Pinto NC, Stevnsner T, et al. DNA repair, mitochondria, and neurodegeneration. Neuroscience. 2007;145:1318–29.CrossRefGoogle Scholar
  12. 12.
    Jaarsma D, van der Pluijm I, de Waard MC, et al. Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet. 2011;7:e1002405.CrossRefGoogle Scholar
  13. 13.
    Fu L, Xu X, Ren R, et al. Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs. Protein Cell. 2016;7:210–21.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Division of NeurologyKobe University HospitalKobeJapan
  2. 2.Division of NeurologyKobe University Graduate School of MedicineKobeJapan
  3. 3.Department of DermatologyGraduate School of Medicine, Kobe UniversityKobeJapan

Personalised recommendations