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Human Molecular Genetics 2006 15(Review Issue 2):R182-R187; doi:10.1093/hmg/ddl202
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease

Kevin Talbot1,2,* and Olaf Ansorge3

1 Department of Physiology, Anatomy and Genetics , 2 Department of Clinical Neurology, University of Oxford and 3 Department of Neuropathology, University of Oxford, Henry Wellcome Building of Gene Function, South Parks Road, Oxford OX1 3QX, UK

* To whom correspondence should be addressed. Tel: +44 1865285875; Fax: +44 1865790493; Email: kevin.talbot{at}clneuro.ox.ac.uk

Received July 19, 2006; Accepted July 27, 2006

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease classically defined by the impairment of the voluntary motor system and ubiquitin-positive intraneuronal aggregates in anterior horn cells. Frontotemporal dementia (FTD) is a common form of neurodegenerative dementia and presents with personality change associated in a significant subgroup of patients with cortical ubiquitin-only neuropathology (FTD-U). Careful study of ALS as well as FTD patient cohorts suggests clinical as well as pathological overlap of ALS with FTD. The idea that this reflects a shared pathogenesis has received strong support from the identification of new genetic loci on chromosome 9p and of mutations in specific genes (CHMP2B and DCN1) in families with co-segregation of ALS and FTD. The identification of two further genetic causes of FTD-U with (rare) ALS (PGRN) or without ALS (VCP) also provides a starting point for exploring the pathways associated with ubiquitin-mediated protein mishandling in FTD-U and ALS. Pure ALS, through ALS with cognitive impairment and ALS–FTD to pure FTD-U, may represent a continuous spectrum of ubiquitin-associated neurodegenerative disease.


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