Claudia Muñoz

TL;DR: This study shows the earliest known biomarker changes in cognitively normal people at genetic risk for autosomal dominant Alzheimer's disease with functional and structural MRI findings and CSF and plasma biomarker findings consistent with Aβ(1-42) overproduction.

TL;DR: Compared with noncarriers, cognitively unimpaired mutation carriers had significantly lower precuneus cerebral metabolic rates for glucose, smaller hippocampal volume, lower CSF Aβ1-42, higher CSF total tau and phosphorylated tau181, and higher plasma Aβ 1-42 measurements.

TL;DR: Analysis of a consanguineous family segregating autosomal recessive behavioral variant FTLD from Antioquia, Colombia suggests that a mutational burden in TREM2 may serve as a risk factor for neurodegenerative disease in general, and that potentially this class of T REM2 variant carriers with dementia should be considered as having a molecularly distinct form of neurodegenersative disease.

TL;DR: Children at genetic risk for ADAD have functional and structural brain changes and abnormal levels of plasma Aβ1-42, and this study provides additional information about the earliest known biomarker changes associated with ADAD.

TL;DR: Plasma NfL measurements increased with age in both groups, and began to differentiate carriers from non-carriers when aged 22 years (22 years before the estimated median age at mild cognitive impairment onset of 44 years), although the ability of plasma N fL to discriminate between carriers and non- carriers only reached high sensitivity close to the age of clinical onset.