Gene mutation identified in familial ALS patients may also be present in Alzheimer's disease

This past October, an international team of researchers that included Packard-funded scientist Bryan Traynor identified a large DNA repeat in the gene C9ORF72 that could be found in up to 40 percent of familial ALS patients in North America and Europe.

Since this repeat was simultaneously identified in patients with frontotemporal dementia (FTD), Traynor and his colleagues thought that this disrupted gene might also account for some cases of Alzheimer's disease, the most common neurodegenerative disease.

In a study published in the New England Journal of Medicine on January 4, the scientists screened the DNA of 342 families with late-onset Alzheimer's disease for the repeat in C9ORF72, and found the repeat in three families, approximately one percent of families with late-onset Alzheimer's disease. Autopsy results of some of these patients found the cause of dementia to be FTD rather than Alzheimer's disease, as clinical evaluations are only about 83 percent accurate.

Traynor and colleagues concluded that some cases of FTD are potentially misdiagnosed as Alzheimer's disease. Screening for disruption in C9ORF72 may improve the accuracy of Alzheimer's disease and FTD diagnosis by correctly classifying patients, the researchers concluded.

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