TY - JOUR
T1 - Cognitive and behavioral features of c9ftd/als
AU - Boeve, Bradley F.
AU - Gra-Radford, Neill R.
N1 - Funding Information:
This work was supported by the ‘Mayo Alzheimer’s Disease Research Center’ (P50 AG016574), the ‘Mayo Alzheimer’s Disease Patient Registry’(UO1 AG006786), ‘Identifying Mechanisms of Dementia: Role for MRI in the Era of Molecular Imaging’(RO1 AG011378), and the Robert H. and Clarice Smith and Abigail Van Buren Alzheimer’s Disease Research Program of the Mayo Foundation. We thank our many collaborators across the Mayo Clinic sites in Rochester, MN; Jacksonville, FL; and Scottsdale, AZ. We thank Ian Mackenzie, Adam Boxer, and Bruce Miller for collaborating on the VSM-20 (Vancouver-San Francisco-Mayo Clinic family 20) kindred. We particularly thank the patients and their families for participating in aging and neurodegenerative disease research.
Funding Information:
This work was supported by the 'Mayo Alzheimer's Disease Research Center' (P50 AG016574)
Funding Information:
This paper was supported by P50 AG016574. Ronald C Petersen is the principal investigator. BFB declares that he has no competing interests. He has served as an investigator for clinical trials sponsored by Cephalon, Inc. (Frazer, PA, USA), Allon Pharmaceuticals Inc. (Vancouver, BC, Canada), and GE Healthcare (Little Chalfont, Buckinghamshire, UK). He receives royalties from the publication of a book entitled the Behavioral Neurology of Dementia (Cambridge: Cambridge University Press; 2009). He has received honoraria from the American Academy of Neurology. NRG-R declares that he has no competing interests. He is on the scientific advisory board of Codman (part of DePuy Orthopaedics, Inc, Warsaw, IN, USA) and is chair of the data and safety monitoring board of Baxter (Deerfield, IL, USA) regarding an IGIV (immune globulin administered intravenously) trial in Alzheimer’s disease, an editor for the Neurologist, and part of multicenter trials for Allon Pharmaceuticals Inc. (progressive supranuclear palsy), Janssen (Titusville, NJ, USA), Pfizer Inc (New York, NY, USA) (bapineuzumab for Alzheimer’s disease), and Forest Laboratories, Inc. (New York, NY, USA) using memantine in frontotemporal dementia.
Publisher Copyright:
© 2012 BioMed Central Ltd.
PY - 2012
Y1 - 2012
N2 - Numerous kindreds with familial frontotemporal dementia or amyotrophic lateral sclerosis or both have been linked to chromosome 9 (c9FTD/ALS), and an expansion of the GGGGCC hexanucleotide repeat in the non-coding region of chromosome 9 open reading frame 72 (C9ORF72) was identified in the summer of 2011 as the pathogenic mechanism. An avalanche of papers on this disorder is in progress, and a relatively distinctive phenotype is taking form. In this review,we present an illustrative case and summarize the demographic, inheritance, clinical, and behavioral aspects and presumed pathologic underpinnings of c9FTD/ALS on the basis of the available data on more than 250 patients with frontotemporal lobar degeneration syndromes, parkinsonism, or ALS or a combination of these disorders.
AB - Numerous kindreds with familial frontotemporal dementia or amyotrophic lateral sclerosis or both have been linked to chromosome 9 (c9FTD/ALS), and an expansion of the GGGGCC hexanucleotide repeat in the non-coding region of chromosome 9 open reading frame 72 (C9ORF72) was identified in the summer of 2011 as the pathogenic mechanism. An avalanche of papers on this disorder is in progress, and a relatively distinctive phenotype is taking form. In this review,we present an illustrative case and summarize the demographic, inheritance, clinical, and behavioral aspects and presumed pathologic underpinnings of c9FTD/ALS on the basis of the available data on more than 250 patients with frontotemporal lobar degeneration syndromes, parkinsonism, or ALS or a combination of these disorders.
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U2 - 10.1186/alzrt132
DO - 10.1186/alzrt132
M3 - Review article
AN - SCOPUS:84863572920
SN - 1758-9193
VL - 4
JO - Alzheimer's Research and Therapy
JF - Alzheimer's Research and Therapy
M1 - 29
ER -