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Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report.

Ha Yun Oh, Ra Gyoung Yoon, Ji Ye Lee

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    Adult-onset Alexander Disease (AOAD) is a rare neurological disorder. Characteristic MRI findings, confirmed by GFAP gene mutation analysis, aid in diagnosing this progressive leukoencephalopathy.

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    Area of Science:

    • Neuroscience
    • Genetics
    • Radiology

    Background:

    • Adult-onset Alexander Disease (AOAD) is a rare, inherited leukoencephalopathy.
    • Clinical manifestations include ataxia, spastic paraparesis, and brainstem dysfunction.

    Observation:

    • Two female patients (37 and 61 years old) presented with symptoms suggestive of AOAD.
    • Characteristic MRI findings included tadpole-like brainstem atrophy and periventricular white matter abnormalities.

    Findings:

    • Follow-up MRI revealed progressive atrophy in the medulla and upper cervical spinal cord.
    • Glial fibrillary acidic protein (GFAP) mutation analysis confirmed the diagnosis in both cases.

    Implications:

    • This case series highlights the diagnostic utility of specific MRI patterns in AOAD.
    • GFAP mutation analysis is crucial for confirming AOAD diagnoses, improving clinical awareness and management.