ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

ABSTRACT:

Background and purpose

ITPR3 encodes type 3 inositol-tri-phosphate receptor (IP₃R3), a protein expressed in Schwann cells, predominantly in the paranodal region, and involved in the regulation of Ca²⁺ release from the endoplasmic reticulum. Dominant variants in ITPR3 have recently been recognized as a rare cause of intermediate Charcot-Marie-Tooth disease (CMT).

Methods

We collected the clinical data of a family with autosomal dominant neuropathy whose proband was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) for many years. The genetic diagnosis was achieved by whole exome sequencing.

Results

The proband developed symmetrical sensory-motor neuropathy with demyelinating features at 32 years old. He was diagnosed with CID

SUBMITTER: Cabello-Murgui J 

PROVIDER: S-EPMC11554859 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature