Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

ABSTRACT: Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists. We collected clinical, genetic, and epidemiological data from a total of 15 patients representing one of the largest cohorts described thus far. Average age of patients was 11.7 years at inclusion. The most frequently reported symptoms (HPO coded) were gait disturbance and muscle weakness, abnormality of muscle size, and abnormal reflexes. In line

SUBMITTER: Gangfuß A 

PROVIDER: S-EPMC11649756 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature