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Young onset, less parkinsonism and more cognitive and cortical sensory impairment, along with reduced MRI parietal volumes point to CBS-AD, while limb dystonia, falls and worse verbal fluency relate to CBS-non-AD.
Together, these experiments show that GarsΔETAQ/+ mice display robust and selective peripheral nerve pathology that manifests in a general distal-to-proximal fashion, priming this CMT2D allele for testing treatments and evaluating mechanisms underlying peripheral nerve vulnerability.
This study provides Class II evidence that plasma NfL/p-tau217 discriminates patients with CJD from those with AD and Diagnosing AD with a single abnormal p-tau plasma biomarker risks misdiagnosing prion diseases as AD.
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