Diagnosing Alexander disease in adults.

Area of Science:

• Neurology
• Genetics
• Neurodegenerative Diseases

Background:

• Alexander disease is a rare, fatal genetic neurological disorder.
• Pathogenic variants in the glial fibrillary acidic protein (GFAP) gene cause Alexander disease.
• Symptoms vary significantly with age of onset, presenting differently in children versus adults.

Purpose of the Study:

• To describe adult-onset Alexander disease cases.
• To guide recognition of distinctive clinical and radiological features in later-onset forms.
• To emphasize the importance of timely diagnosis for potential interventions.

Main Methods:

• Detailed case descriptions of adult-onset Alexander disease patients.
• Review of clinical presentations.
• Analysis of neuroimaging characteristics.
• Genetic testing confirmation.

Main Results:

• Adult-onset Alexander disease presents with heterogeneous and non-specific symptoms.
• Distinctive clinical signs include bulbar signs, ataxia, and autonomic dysfunction.
• Diagnosis requires a combination of clinical evaluation, neuroimaging, and genetic testing.

Conclusions:

• Early recognition of adult-onset Alexander disease is crucial.
• Comprehensive evaluation aids in diagnosing this rare genetic disorder.
• Earlier interventions may mitigate disease severity or slow progression.