Cognitive and behavioral features of c9FTD/ALS
1 Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
2 Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Alzheimer's Research & Therapy 2012, 4:29 doi:10.1186/alzrt132Published: 20 July 2012
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.