giant axonal neuropathy 1

Giant axonal neuropathy 1 is a degenerative disorder affecting both the peripheral and central nervous systems. It is caused by pathogenic variants in the GAN gene, which disrupt the normal function of the gigaxonin protein that is important for neuronal health. Most affected individuals present in early childhood with motor and sensory challenges along with other neurological features such as intellectual disability in some cases. The exact prevalence of this condition is not well established.

Patients with giant axonal neuropathy 1 typically exhibit a constellation of features. Characteristic manifestations include persistent vomiting, strabismus, motor delay, photophobia, macrocephaly, and areflexia, with lateral ventricle dilatation noted on neuroimaging. A subset of individuals may also experience cognitive challenges and intellectual disability, although not all are affected in this regard. Not all individuals experience all features, and severity varies considerably.

Giant axonal neuropathy 1 is caused by mutations in the GAN gene. The GAN gene encodes the gigaxonin protein, which plays a critical role in maintaining the structural organization of neurons. This condition is inherited in an autosomal recessive manner, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. In families where parents share a common ancestor, the likelihood of both carrying the same pathogenic variant may be increased.

Currently, management focuses on supportive care and symptom management since no treatments have been specifically approved for giant axonal neuropathy 1. Treatment is tailored to the individual's needs and typically involves a multidisciplinary team that may include neurologists, physical therapists, and other specialists to address motor delays, potential cognitive challenges, and other symptoms. Genetic counseling is recommended for families, and patients should discuss treatment options with their healthcare team to determine the most appropriate approach.

The long-term outlook for giant axonal neuropathy 1 is highly variable, with outcomes depending on the severity of symptoms, age at diagnosis, and access to specialized care. Many individuals experience a range of symptoms that can progress, stabilize, or vary over time, and modern standards of care have helped improve quality of life. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and genetic counselors to discuss long-term management and planning, recognizing that not all individuals experience all features and that severity varies considerably.

Clinical trials are underway exploring new treatment approaches for giant axonal neuropathy 1. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility and emerging therapies.