Author

Nil Saez-Calveras

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Review Open access Oct 2026

Alexander Disease Diagnosed in an Obstetrics Patient: A Case Report and Review of the Literature.

Alexander disease (AxD) is a rare autosomal dominant leukodystrophy due to pathogenic variants in glial fibrillary acidic protein (GFAP). Adult-onset AxD type II presents with heterogeneous neurologic and neuropsychiatric symptoms. We report a unique case diagnosed in the postpartum period that mimicked posterior rever...

Nil Saez-Calveras, Kristen Warncke, Jessica Schnorr et al. · The Neurohospitalist · 0 citations

Open access Jul 2026

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism

It is reported that X-linked Dystonia-Parkinsonism (XDP), caused by a non-coding retrotransposon-associated repeat insertion in TAF1, involves a significant imbalance of tau isoforms and the accumulation of hyperphosphorylated, four-repeat tau in the brain.

C. J. Reyes, Aloysius Domingo, E. Penney et al. · medRxiv · 0 citations