Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

ABSTRACT:

Introduction

Charcot-Marie-Tooth neuropathy (CMT) is a genetically heterogeneous group of peripheral neuropathies. In addition to the classical clinical phenotype, additional features can occur.

Methods

We studied a wide range of additional features in a cohort of 49 genetically confirmed CMT patients and performed a systematic literature revision.

Results

Patients harbored a PMP22 gene alteration (n = 28) or a mutation in MPZ (n = 11), GJB1 (n = 4), LITAF (n = 2), MFN2 (n = 2), INF2 (n = 1), NEFL (n = 1). We identified four novel mutations (3 MPZ, 1 GJB1). A total of 88% presented at least one additional feature. In MPZ patients, we detected hypertrophic nerve roots in 3/4 cases that underwent spinal MRI, and pupillary abnormalities in 27%. In our cohort, restless le

SUBMITTER: Werheid F 

PROVIDER: S-EPMC4782242 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature