Clinical Associations of Cerebrospinal Fluid TMEM106B in Familial and Sporadic Frontotemporal Dementia

What are the clinical correlates of cerebrospinal fluid (CSF) TMEM106B protein levels in sporadic and familial frontotemporal lobar degeneration (FTLD)?Per the results of this cross-sectional study, CSF TMEM106B levels did not differentiate FTLD from Alzheimer disease or between FTLD subtypes but were lower in patients with more severe disease and those with the protective rs1990622 genotype, regardless of underlying neuropathology or FTLD-causing pathogenic variant. Low CSF TMEM106B was associated with smaller regional brain volumes and faster clinical decline.TMEM106B is detectable in CSF, and its clinical associations may shed light on the pathophysiology of FTLD and other neurodegenerative diseases.

Corresponding Author: Julio C. Rojas, MD, PhD, Edward and Pearl Fein Memory and Aging Center, University of California, San Francisco, 675 Nelson Rising Ln, Ste 190, San Francisco, CA 94158 (julio.rojas-martinez@ucsf.edu).

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