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The C9ORF72 mutation brings more answers and more questions
Bruce L Miller Alzheimer's Research & Therapy 2013, 5:7 (18 February 2013)
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Editor’s summary
Bruce Miller, Guest Editor of the special series: The new FTD mutation on chromosome 9, discusses the C9ORF72 mutation associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis. |
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Assessment of psychiatric changes in C9ORF72 frontotemporal dementia
Michael Hornberger Alzheimer's Research & Therapy 2012, 4:49 (24 December 2012)
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Treatment implications of C9ORF72
Sharon J Sha, Adam Boxer Alzheimer's Research & Therapy 2012, 4:46 (27 November 2012)
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Editor’s summary
Sha and Boxer discuss the animal models and research tools needed to understand the clinical phenotypes of frontotemporal dementia and amyotrophic lateral sclerosis linked to chromosome 9 (c9FTD/ALS) in C9ORF72-mediated disease.
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Neuroimaging features of C9ORF72 expansion
Jennifer S Yokoyama, Howard J Rosen Alzheimer's Research & Therapy 2012, 4:45 (16 November 2012)
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Editor’s summary
Yokoyama and Rosen review neuroimaging studies on the pathogenic C9ORF72 expansion; establishing that unique characteristics of C9ORF72-associated disease may aid identification of patients for genetic screening and diagnosis.
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Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease
Leonel T Takada, Sharon J Sha Alzheimer's Research & Therapy 2012, 4:38 (3 October 2012)
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Editor’s summary
Takada and Sha review the neuropsychiatric features of chromosome 9p-linked frontotemporal dementia (FTD) and the risk that some C9orf72 mutation carriers may be misdiagnosed with primary psychiatric conditions.
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C9orf72 immunohistochemistry in Alzheimer's disease
Tibor Hortobágyi Alzheimer's Research & Therapy 2012, 4:37 (26 September 2012)
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Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions
Colin J Mahoney, Laura E Downey, Gerard R Ridgway, Jon Beck, Shona Clegg, Melanie Blair, Sarah Finnegan, Kelvin K Leung, Tom Yeatman, Hannah Golden, Simon Mead, Jonathan D Rohrer, Nick C Fox, Jason D Warren Alzheimer's Research & Therapy 2012, 4:41 (24 September 2012)
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Editor’s summary
Longitudinal neuropsychological and neuroimaging data on a cohort of patients with pathological repeat expansions in C9ORF72 is assessed, demonstrating longitudinal biomarkers for tracking the evolution of the C9ORF72 mutation phenotype.
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Dystrophic neurites express C9orf72 in Alzheimer's disease brains
Jun-ichi Satoh, Hiroko Tabunoki, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima Alzheimer's Research & Therapy 2012, 4:33 (16 August 2012)
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Editor’s summary
C9orf72 and UBQLN-1 expression in a cluster of dystrophic neurites in senile plaques in Alzheimer's disease brains suggests C9orf72 has a role in the process of neurodegeneration.
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Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion
Laura E Downey, Colin J Mahoney, Martin N Rossor, Sebastian J Crutch, Jason D Warren Alzheimer's Research & Therapy 2012, 4:42 (13 August 2012)
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Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia
Jennifer C Schymick, Bryan J Traynor Alzheimer's Research & Therapy 2012, 4:30 (26 July 2012)
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Cognitive and behavioral features of c9FTD/ALS
Bradley F Boeve, Neill R Graff-Radford Alzheimer's Research & Therapy 2012, 4:29 (20 July 2012)
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Editor’s summary
Boeve and Graff-Radford review the major new findings in familial frontotemporal dementia and/or amyotrophic lateral sclerosis linked to chromosome 9 (c9FTD/ALS) and its recently discovered pathogenic C9ORF72 hexanucleotide expansion.
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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion
Jamie C Fong, Anna M Karydas, Jill S Goldman Alzheimer's Research & Therapy 2012, 4:27 (19 July 2012)
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Editor’s summary
Fong and colleagues discuss the genetic counselling considerations for individuals and their families considering genetic testing for the pathogenic C9ORF72 hexanucleotide expansion in familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
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