Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Han-Xiang Deng, Wenjie Chen, Seong-Tshool Hong, Kym M. Boycott, George H. Gorrie, Nailah Siddique, Yi Yang, Faisal Fecto, Yong Shi, Hong Zhai, Hujun Jiang, Makito Hirano, Evadnie Rampersaud, Gerard H. Jansen, Sandra Donkervoort, Eileen H. Bigio, Benjamin R. Brooks, Kaouther Ajroud, Robert L. Sufit, Jonathan L. Haines, Enrico Mugnaini, Margaret A. Pericak-Vance and Teepu Siddique ()
Additional contact information
Han-Xiang Deng: Northwestern University Feinberg School of Medicine
Wenjie Chen: Northwestern University Feinberg School of Medicine
Seong-Tshool Hong: Northwestern University Feinberg School of Medicine
Kym M. Boycott: University of Ottawa and Children’s Hospital of Eastern Ontario Research Institute
George H. Gorrie: Northwestern University Feinberg School of Medicine
Nailah Siddique: Northwestern University Feinberg School of Medicine
Yi Yang: Northwestern University Feinberg School of Medicine
Faisal Fecto: Northwestern University Feinberg School of Medicine
Yong Shi: Northwestern University Feinberg School of Medicine
Hong Zhai: Northwestern University Feinberg School of Medicine
Hujun Jiang: Northwestern University Feinberg School of Medicine
Makito Hirano: Northwestern University Feinberg School of Medicine
Evadnie Rampersaud: John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine
Gerard H. Jansen: The Ottawa Hospital
Sandra Donkervoort: Northwestern University Feinberg School of Medicine
Eileen H. Bigio: Northwestern University Feinberg School of Medicine
Benjamin R. Brooks: Neuroscience and Spine Institute, Carolinas Medical Center
Kaouther Ajroud: Northwestern University Feinberg School of Medicine
Robert L. Sufit: Northwestern University Feinberg School of Medicine
Jonathan L. Haines: Center for Human Genetics Research, Vanderbilt University
Enrico Mugnaini: Northwestern University Feinberg School of Medicine
Margaret A. Pericak-Vance: John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine
Teepu Siddique: Northwestern University Feinberg School of Medicine

Nature, 2011, vol. 477, issue 7363, 211-215

Abstract: Ubiquilin 2 pathology in ALS and ALS/dementia A study of a five-generation family with the usually fatal disorder amyotrophic lateral sclerosis (ALS) has identified mutations in the UBQLN2 gene, which encodes the ubiquitin-like protein ubiquilin 2, as a cause of ALS and ALS/dementia. This finding is of particular interest as it links familial and sporadic forms of the disease through a ubiquilin 2 pathology observed in the spinal cords of ALS cases and in the brains of ALS/dementia cases with or without UBQLN2 mutations. This novel pathology shows that abnormalities in ubiquilin 2 are associated with defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that might be a target for therapeutic intervention.

Date: 2011
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DOI: 10.1038/nature10353

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