Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.

TitleAtypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.
Publication TypeJournal Article
Year of Publication2012
AuthorsKhan, BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez M-D, Coppola G, Geschwind DH, Rademakers R, Lee SE, Rosen HJ, Rabinovici GD, Seeley WW, Rankin KP, Boxer AL, Miller BL
JournalJournal of neurology, neurosurgery, and psychiatry
Volume83
Issue4
Pagination358-64
Date Published2012 Apr
ISSN1468-330X
KeywordsAlzheimer Disease, Amyotrophic Lateral Sclerosis, Brain Mapping, DNA Repeat Expansion, Female, Frontotemporal Dementia, Heterozygote, Humans, Male, Middle Aged, Mutation, Neuropsychological Tests, Proteins
Abstract

Some patients meeting behavioural variant frontotemporal dementia (bvFTD) diagnostic criteria progress slowly and plateau at mild symptom severity. Such patients have mild neuropsychological and functional impairments, lack characteristic bvFTD brain atrophy and have thus been referred to as bvFTD 'phenocopies' or slowly progressive (bvFTD-SP). The few patients with bvFTD-SP that have been studied at autopsy have demonstrated no evidence of FTD pathology, suggesting that bvFTD-SP is neuropathologically distinct from other forms of FTD. Here, two patients with bvFTD-SP with chromosome 9 open reading frame 72 (C9ORF72) hexanucleotide expansions are described.

DOI10.1111/j.1460-9568.2012.08054.x
Alternate JournalJ. Neurol. Neurosurg. Psychiatr.