Objective: We report a unique case of genetically diagnosed Alexander’s disease comorbid, with clinically diagnosed Parkinson’s disease.

Background: Alexander disease is a neurological disease, that causes leukodystrophy and neuronal loss of brain, due to mutation of glial fibrillary acidic protein (GFAP) gene. When age of onset is high, bulbar symptoms and cerebellar dysfunction develop gradually, requiring discrimination from adult-onset neurodegenerative disorders.

Method: A 58-year-old Korean woman who developed tremor four months ago. On neurological examination, she showed rigidity, bradykinesia and resting tremor on left limbs. Neuropsychological assessment resulted in mild cognitive impairment.

Results: Brain MRI with T2weighted images show bilateral symmetrically decreased volume of medulla oblongata with bilaterally mottled high signal intensities and bilateral high signal intensity at both cerebellar dentate nucleus. FP-CIT PET show severely decreased binding in bilateral putamen, and caudate nucleus. Anti-parkinsonian medications improved her parkinsonism. Next generation sequencing of customized panel resulting in known pathogenic heterozygous p.Arg70Trp variant (NM_002055.4:c.208C>T) in GFAP gene.

Conclusion: We present an unusual case wherein clinical Parkinson’s disease, and genetic Alexander disease coexist. If MRI findings suggestive of leukoencephalopathy-related disorders are observed in patients with Parkinson’s disease, clinicians need to further investigate the possibility of genetic variant of adult-onset leukoencephalopathy, including Alexander disease.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/comorbid-parkinsons-disease-in-a-korean-patient-with-alexanders-disease/