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CNS-ICNA 2020

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Spinal cord MRI reveals early pathological changes in asymptomatic C9orf72 carriers

Imaging of the cervical spinal cord may help track pathological changes in asymptomatic patients with C9orf72 gene mutations, researchers in France say.

Hexanucleotide expansion in the C9orf72 gene account for up to half of all familial cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), according to Dr Giorgia Querin of the Institute of Myology in Pairs, France.

While carriers of C9orf72 mutations often have a long asymptomatic period, white matter and gray matter degeneration has been observed in asymptomatic carriers, often years before symptom onset.

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