Demonstrating clinical and radiological variability of adult-onset Alexander disease in three siblings.
Aditi Varma-Doyle, Aidan Long, Simon Cronin et al.
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Case in brief
Three siblings in their fifth and sixth decades presented with adult-onset Alexander disease, characterized by insidious onset of motor, cerebellar, and autonomic dysfunction. They carried a rare GFAP variant, p.Ser385Cys. MRI findings revealed variability in medullary atrophy, correlating with clinical severity and showing progression over time, highlighting the challenges in timely diagnosis.
What made this case unusual
The case illustrates the clinical and radiological variability of adult-onset Alexander disease among siblings, emphasizing the need for careful evaluation in older patients.
Diagnostic / clinical pearl
Clinicians should consider adult-onset Alexander disease in older patients presenting with unexplained motor and autonomic symptoms, especially when MRI shows medullary atrophy.
Why it matters
This case underscores the importance of recognizing genetic neurodegenerative diseases in older populations to prevent under-diagnosis and ensure appropriate management.