Harel-Yoon syndrome (HYS)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Harel-Yoon syndrome (HYS). This is caused by mutations of the ATAD3A gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations of the ATAD3A gene
  • ATAD3A is a mitochondrial AAA + ATPase protein 
  • Th transmission is autosomal recessive

Neurological features

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Systemic features

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Pathological features

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Prognosis

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Treatment

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References

  1. Hanes I, McMillan HJ, Ito Y, Kernohan KD, Lazier J, Lines MA, Dyment DA. A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome Neurol Genet 2020; 6:e452.
  2. Peralta S, González-Quintana A, Ybarra M, et al. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. Mol Genet Metab 2019; 128:452-462.
  3. Harel T, Yoon WH, Garone C, et al. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet 2017; 99:831–845.
  4. Al Madhoun A, Alnaser F, Melhem M, Nizam R, Al-Dabbous T, Al-Mulla F. Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus. Appl Clin Genet 2019; 12:79-86.

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