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Acta Neuropathologica

, Volume 121, Issue 4, pp 555–557 | Cite as

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

  • Hidefumi Ito
  • Kengo Fujita
  • Masataka Nakamura
  • Reika Wate
  • Satoshi Kaneko
  • Shoichi Sasaki
  • Kiyomi Yamane
  • Naoki Suzuki
  • Masashi Aoki
  • Noriyuki Shibata
  • Shinji Togashi
  • Akihiro Kawata
  • Yoko Mochizuki
  • Toshio Mizutani
  • Hirofumi Maruyama
  • Asao Hirano
  • Ryosuke Takahashi
  • Hideshi Kawakami
  • Hirofumi Kusaka
Correspondence

We recently reported that mutations in the gene encoding optineurin (OPTN) cause amyotrophic lateral sclerosis (ALS) [2]. In that report, we demonstrated the co-localization of OPTN with TAR DNA-binding protein of 43 kDa (TDP-43) or Cu/Zn superoxide dismutase (SOD1) in the pathognomonic inclusions of sporadic (SALS) or familial ALS (FALS) with mutated SOD1, respectively [2].

Fused in sarcoma (FUS) is another causative gene of ALS [1, 7]. FUS-immunoreactivity is identifiable in basophilic inclusions (BIs) from patients with sporadic basophilic inclusion body disease (BIBD) [4] and in those from ‘FALS with FUS mutation’ patients. The fact that both FUS and OPTN cause ALS when mutated prompted us to investigate the correlation between these proteins.

We analyzed postmortem material from three patients with sporadic BIBD and from three with FALS with FUS mutation. All the patients manifested upper and lower motor neuron signs, but no cognitive impairment was noted. Their demographic and...

Keywords

Amyotrophic Lateral Sclerosis Lower Motor Neuron Double Immunofluorescence Staining Familial Amyotrophic Lateral Sclerosis Anterior Horn Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

This work was supported in part by grants-in-aid for scientific research from the Japan Society for the Promotion of Science (No. 21500336) and from the Japan Science and Technology Agency (AS2211173G). We thank Dr. Toshio Oyama (Yamanashi Prefectural Central Hospital) for providing materials from ‘FALS with FUS mutation’ patient No. 1, and Drs. Makoto Arai and Haruhiko Akiyama (Tokyo Institute of Psychiatry) for genetic analysis of ‘FALS with FUS mutation’ patient No. 3.

Conflict of interest

The authors report no conflicts of interest.

Supplementary material

401_2011_809_MOESM1_ESM.pdf (109 kb)
Supplementary material 1 (PDF 108 kb)

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Hidefumi Ito
    • 1
    • 2
  • Kengo Fujita
    • 1
  • Masataka Nakamura
    • 1
  • Reika Wate
    • 1
  • Satoshi Kaneko
    • 1
  • Shoichi Sasaki
    • 3
  • Kiyomi Yamane
    • 4
  • Naoki Suzuki
    • 5
  • Masashi Aoki
    • 5
  • Noriyuki Shibata
    • 6
  • Shinji Togashi
    • 7
  • Akihiro Kawata
    • 8
  • Yoko Mochizuki
    • 8
  • Toshio Mizutani
    • 8
  • Hirofumi Maruyama
    • 9
  • Asao Hirano
    • 10
  • Ryosuke Takahashi
    • 2
  • Hideshi Kawakami
    • 9
  • Hirofumi Kusaka
    • 1
  1. 1.Department of NeurologyKansai Medical UniversityOsakaJapan
  2. 2.Department of NeurologyKyoto University Graduate School of MedicineKyotoJapan
  3. 3.Department of NeurologyTokyo Women’s Medical UniversityTokyoJapan
  4. 4.Department of NeurologyOhta-Atami HospitalKoriyamaJapan
  5. 5.Department of NeurologyTohoku University School of MedicineSendaiJapan
  6. 6.Department of PathologyTokyo Women’s Medical UniversityTokyoJapan
  7. 7.Department of NeurologyKofu City HospitalKofuJapan
  8. 8.Department of Neurology and PathologyTokyo Metropolitan Neurological HospitalTokyoJapan
  9. 9.Department of Epidemiology, Research Institute for Radiation Biology and MedicineHiroshima UniversityHiroshimaJapan
  10. 10.Division of NeuropathologyMontefiore Medical CenterNew YorkUSA

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