Observational studyPediatric neurology2025
Prevalence of Elevated Opening Pressure Measurements in Alexander Disease.
Observational study in Pediatric neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
13 authors.
Funding
Abstract
backgroundAlexander disease (AxD) is caused by a gain-of-function mutation in GFAP resulting in the formation of Rosenthal fibers, which are hypothesized to impair cerebrospinal fluid circulation, potentially resulting in increased ICP. We explored the prevalence of elevated intracranial pressure (ICP) in AxD.
methodsPatients with AxD underwent a neurological examination, lumbar puncture (LP) with opening pressure (OP) with legs flexed, and brain magnetic resonance imaging (MRI). Elevated OP was defined as >28 cm H
resultsSixty-nine LPs were performed in 43 patients; 21 (49%) patients had an elevated OP on at least one LP. Papilledema was not present among those with a concurrent undilated funduscopic examination. Although most patients were asymptomatic, two patients received acetazolamide for headache and vomiting with symptom benefit and reduced OP. There was no association between age and OP (P = 0.11). MRI features of increased ICP were primarily observed in those with elevated OP.
conclusionsElevated OP with legs flexed and MRI features of increased ICP occur frequently in AxD, even in the absence of overt clinical signs. The implications of increased ICP on patient outcomes and whether asymptomatic elevated OP requires treatment need to be determined in AxD.
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