The abstract is read at the publisher; the summary is JClub's.
Two adult sisters with Harel-Yoon syndrome due to ATAD3A NM_001170535.3:c.1582C>T (p.Arg528Trp) had wheelchair-dependent motor impairment yet low-average IQ scores of 88 and 82.
- Why it matters: Genotype-to-function links in Harel-Yoon syndrome are unclear, and clinicians need better expectations for long-term outcomes when mitochondrial disorder presentations vary widely.
- What they did: The authors used exome sequencing followed by targeted familial Sanger confirmation of the heterozygous ATAD3A variant, alongside neuroimaging and electrophysiology showing chronic sensorimotor polyneuropathy with axonal loss and conduction slowing.
- The result: Despite severe progressive motor disability, both sisters completed formal education and showed relative cognitive preservation at single adult assessments, with limited cardiac or metabolic involvement and long-term survival.
The findingWhy it mattersWhat they didThe result
AI summary of the abstract · may contain errors · not medical advice · read the paper.