Discriminating behavioral and language variants of frontotemporal lobar degeneration

Takeaway

  • C9orf72 expansions, age at onset (AAO) and Northern European ancestry correlates with the behavior variant of frontotemporal lobar degeneration (bvFTD), not primary progressive aphasia (PPA).

Why this matters

  • Frontotemporal lobar degeneration (FTLD) refers to the second most common form of young-onset dementia after Alzheimer’s Disease. The major clinical syndromes are behavior variant (bvFTD) and/or language dysfunctions, known as primary progressive aphasia (PPA).

  • Repeat expansions of C9orf72 have been identified in FTLD and have been reported to be associated with phenotypical and pathological heterogeneity.

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