The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

ABSTRACT:

Objective

To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease onset ≥35 years.

Methods

We recruited patients, collected clinical data, and conducted whole-exome sequencing (WES; n = 126) and MME single-gene sequencing (n = 104). We further queried WES repositories for MME variants and measured blood levels of the MME-encoded protein neprilysin.

Results

In the WES cohort, the overall detection rate for assumed disease-causing variants in genes for CMT or other conditions associated with neuropathies was 18.3% (familial cases 26.4%, apparently

SUBMITTER: Senderek J 

PROVIDER: S-EPMC7836667 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature