Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features.

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Giant axonal neuropathy (GAN) is an inherited neurodegenerative disorder impacting the central and peripheral nervous systems.
• It is caused by mutations in the GAN gene.
• This study examines three new unrelated patients with GAN.

Purpose of the Study:

• To describe the clinical, electrophysiological, radiological, and genetic features of three pediatric patients with suspected GAN.
• To highlight the diagnostic process and confirm the genetic basis of the disease.

Main Methods:

• Inclusion of three pediatric patients with suspected GAN based on early-onset polyneuropathy, characteristic hair, CNS involvement, or suggestive neuroimaging.
• Performance of biochemical, metabolic, and electrophysiological investigations.
• Confirmation of diagnosis through targeted sequencing of the GAN gene.

Main Results:

• All three patients harbored biallelic mutations in the GAN gene.
• Common findings included peripheral neuropathy, characteristic hair, and cerebellar dysfunction.
• Variable presentation of bony deformities, cranial nerve involvement, and intellectual disability was observed.

Conclusions:

• GAN exhibits significant clinical and radiological heterogeneity.
• Genetic testing is essential for definitive diagnosis and genetic counseling.
• Increased availability of genetic testing is expected to broaden the understanding of GAN's spectrum.