rare disease

Published research on rare disease.

BrainJul 15, 2026

Spanish Rett Syndrome Behavior Questionnaire: ICC 0.907

A 2026 Spanish Rett Syndrome Behavior Questionnaire validation preprint found strong test-retest reliability across 51 caregivers, including an intraclass correlation coefficient of 0.907 an…

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BrainMay 16, 2026

Friedreich Ataxia MRI Study Finds 3 Progression Subtypes

A 2026 longitudinal MRI preprint involving 54 people with Friedreich ataxia and 57 controls found 3 biologically interpretable progression subtypes: microstructure-dominant, macrostructure-d…

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