Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome

J Clin Neurophysiol. 2022 Sep 1;39(6):504-509. doi: 10.1097/WNP.0000000000000811. Epub 2020 Dec 30.


Purpose: Woodhouse-Sakati syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in the DCAF17 gene, characterized by marked neurologic and endocrine manifestations in the setting of brain iron accumulation and white matter lesions on neuroimaging. Here, we report electrophysiologic profiles in Woodhouse-Sakati syndrome and their possible value in understanding disease pathophysiology and phenotypic variability.

Methods: Thirteen genetically confirmed Woodhouse-Sakati syndrome patients were evaluated via different evoked potential (EP) modalities, including brainstem auditory EPs, pattern reversal visual EPs, and somatosensory EPs to tibial and/or median nerves.

Results: All EP modalities showed variable abnormalities. Pattern reversal visual EPs were recorded in all patients, with nine patients exhibiting abnormal results. From those, seven patients showed prolonged P100 latencies after stimulation of right and left eyes for each in turn. Two patients showed P100 latency abnormality after single eye stimulation recorded from midoccipital electrode. Median somatosensory EPs were recorded in 10 patients, with 6 patients having a prolonged cortical N19 response. Tibial somatosensory EP was performed for 11 patients, and 8 patients showed abnormal results where P37 cortical response was absent or prolonged, whereas peripheral potentials at the popliteal fossa were normal. Brainstem auditory EPs were abnormal only in two patients, with prolonged wave III and V latencies. Five patients with hearing impairment presented with normal brainstem auditory EP results.

Conclusions: Multiple EP abnormalities are observed in Woodhouse-Sakati syndrome patients, mainly in pattern reversal visual EPs and somatosensory EPs. These findings indicate potential myelin dysfunction that has a role in the underlying pathophysiology, disease course, and phenotypic variability.

MeSH terms

  • Alopecia
  • Arrhythmias, Cardiac
  • Basal Ganglia Diseases* / genetics
  • Basal Ganglia Diseases* / pathology
  • Diabetes Mellitus
  • Evoked Potentials / physiology
  • Evoked Potentials, Auditory
  • Evoked Potentials, Somatosensory / physiology
  • Evoked Potentials, Visual
  • Humans
  • Hypogonadism* / genetics
  • Hypogonadism* / pathology
  • Intellectual Disability* / genetics
  • Intellectual Disability* / pathology
  • Nuclear Proteins / genetics
  • Ubiquitin-Protein Ligase Complexes / genetics


  • DCAF17 protein, human
  • Nuclear Proteins
  • Ubiquitin-Protein Ligase Complexes

Supplementary concepts

  • Woodhouse Sakati syndrome