Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype

Affiliates Mary Kay Floeter [1], Devin Bageac [1], Laura E. Danielian [1], Laura E. Braun [1], Bryan J Traynor [2], Justin Y. Kwan [3]


[1] Motor Neuron Disorders Unit, OCD, NINDS, NIH
[2] Neuromuscular Disease Research Section LNG, NIA, NIH
[3] Department of Neurology, University of Maryland

Journal NeuroImage: Clinical
Summary Mutations in the C9orf72 gene may cause ALS, frontotemporal dementia (FTD), or mixtures of the two diseases. To address this question, 27 participants with this gene and 28 age-matched healthy controls and 22 patients with sporadic ALS (sALS) underwent clinical assessment. Symptomatic carriers of the C9orf72 expansion mutation exhibit more brain atrophy than healthy controls of a similar age. Atrophy occurs regardless of whether carriers present with an ALS or FTD clinical phenotype, although atrophy is greater in patients with cognitive-behavioral impairment.
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