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- Alexander's disease
- remission and relapse
- bulbar palsy
- palatal tremor
- cerebellar degeneration
Adult Alexander disease is a rare leucodystrophy with severe atrophy of the lower brainstem and upper cervical cord.1 The pathological character is the presence of Rosenthal fibres that contain aggregates of intermediate protein, GFAP, associated with mutations in GFAP gene.2 Because pathogenesis is degenerative, the most typical clinical course is slowly progressive; the intermittent course has not been sufficiently described so far.2 We show a case of genetically confirmed adult Alexander's disease with acute exaggeration and remission, and relapse.
A 33-year-old woman had been well until she suddenly fell down and lost consciousness in 2002. She had left-sided paresis and dysarthria, and was admitted to a hospital. Her medical history was unremarkable except for mild diabetes mellitus. There was no family history of neurological diseases or consanguineous marriage. Her father died of heart disease (in his 40s), her mother died of diabetes mellitus and angina pectoris (in her 50s), and her two daughters were healthy. Brain MRI showed atrophy of the upper cervical cord and T2-hyperintensity in the bilateral periventricular areas and the medulla. The patient was treated for acute ischaemic stroke with medical therapy and rehabilitation (figure 1A). She gradually improved, with the ability to walk with an aid 6 months after the onset and was discharged home 1 year after the onset with left-sided weakness and slight dysarthria. There was no exacerbation or improvement of …
Funding This work was supported by Alexander disease research grants from the Intractable Disease Research Grants, from the Ministry of Health, Labor, and Welfare of the government of Japan.
Competing interests None.
Patient consent Obtained.
Ethics approval Ethics approval was provided by the Saiseikai Nakatsu Hospital Ethics Committee.
Provenance and peer review Not commissioned; externally peer reviewed.