Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype

• Published in: NeuroImage clinical Vol. 12; no. C; pp. 1035 - 1043
• Main Authors: Floeter, Mary Kay, Bageac, Devin, Danielian, Laura E., Braun, Laura E., Traynor, Bryan J., Kwan, Justin Y.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 01.01.2016; Elsevier
• Subjects: Adult; Aged; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - diagnostic imaging; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - pathology; Atrophy - pathology; C9orf72; C9orf72 Protein - genetics; Cerebral Cortex - diagnostic imaging; Cerebral Cortex - pathology; Cerebral Ventricles - diagnostic imaging; Cerebral Ventricles - pathology; Cortical thickness; Diffusion tensor imaging; Disease Progression; Female; Follow-Up Studies; Frontotemporal dementia; Frontotemporal Dementia - diagnostic imaging; Frontotemporal Dementia - genetics; Frontotemporal Dementia - pathology; Heterozygote; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Phenotype; Radiology; Ventricular volume; sALS; TIV; Cortical thickness; MRI; Ventricular volume; ALS; Amyotrophic lateral sclerosis; FBI; ALSFRS-R; DRS-2; Diffusion tensor imaging; ANCOVA; SD; ANOVA; FDR; C9; CSF; FTD; DTI; bvFTD; Frontotemporal dementia; C9orf72; magnetic resonance imaging; frontobehavioral inventory; frontotemporal dementia; false discovery rate correction; amyotrophic lateral sclerosis; total intracranial volume; analysis of variance; subjects with C9orf72 expansion mutations; ALS functional rating scale — revised; Mattis dementia rating scale; behavioral variant frontotemporal dementia; cerebrospinal fluid; sporadic ALS; diffusion tensor imaging; analysis of covariance; standard deviation; ALSFRS-R, ALS functional rating scale — revised; TIV, total intracranial volume; FTD, frontotemporal dementia; FDR, false discovery rate correction; ALS, amyotrophic lateral sclerosis; C9 +, subjects with C9orf72 expansion mutations; MRI, magnetic resonance imaging; sALS, sporadic ALS; ANOVA, analysis of variance; FBI, frontobehavioral inventory; SD, standard deviation; ANCOVA, analysis of covariance; CSF, cerebrospinal fluid; bvFTD, behavioral variant frontotemporal dementia; DRS-2, Mattis dementia rating scale; DTI, diffusion tensor imaging

Expansion mutations in the C9orf72 gene may cause amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), or mixtures of the two clinical phenotypes. Different imaging findings have been described for C9orf72-associated diseases in comparison with sporadic patients with the same phenotyp...