HIST1H1E Syndrome Case Report: Cerebellar and Optic Nerve Atrophy

A clinical case report describes a 51-year-old woman with HIST1H1E syndrome, expanding the known phenotype to include cerebellar and optic nerve atrophy. The report details ophthalmic, neurologic, and genetic evaluations, including optical coherence tomography and whole-exome sequencing results. The document was authored by Zinnia Sen Yen Lai and last updated on June 3, 2026.

Use Cases

• Reviewing clinical presentation details based on the described systemic examination findings
• Analyzing genotype-phenotype correlations based on the reported pathogenic HIST1H1E variant
• Studying neurodegenerative progression based on the described cerebellar and optic nerve atrophy

Strengths

• Report includes specific genetic variant identification (c.464dupC.p.(Lys157Glufs*39))
• Describes multiple diagnostic modalities: clinical exam, OCT, electrophysiology, CT, and genetic sequencing

Limitations

• Dataset is a single case report document (15.7 KB), offering limited scope for statistical analysis
• Row count and column-level documentation are absent; data structure must be inferred from the text

Provenance

Source

figshare

Collection Method

Clinical case study involving comprehensive patient evaluation.

Freshness

Last updated 2026-06-03 04:47:10