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 |
| 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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