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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/WNP.0000000000000811 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Woodhouse-sakati syndrome with no reportable MRI findings: a case report.
BMC Neurol
September 2024
Wellington Hospital, HCA Healthcare, 27 Circus Road, London, UK.
Article Synopsis
- Woodhouse-Sakati Syndrome (WSS) is a rare genetic disorder characterized by symptoms like hypogonadism and neurological issues, often starting in adolescence, with under 200 known cases.
- A unique case of WSS was presented with no notable MRI findings, differing from typical reports, and included symptoms like abnormal leg movements, clumsiness, dysarthria, and alopecia.
- The patient underwent successful genetic testing for WSS diagnosis and received treatment, including botulinum toxin injections and deep brain stimulation, resulting in significant improvements in mobility and overall quality of life.
Single-cell RNA sequencing reveals the important role of Dcaf17 in spermatogenesis of golden hamsters†.
Biol Reprod
December 2024
State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, China.
Article Synopsis
- Dcaf17 is a key protein involved in male fertility, with mutations linked to Woodhouse-Sakati Syndrome (WSS) which causes infertility issues like oligoasthenoteratozoospermia (OAT).
- Researchers created a CRISPR-Cas9 model with Dcaf17-deficient golden hamsters, which showed that the absence of Dcaf17 leads to infertility and abnormal sperm development.
- Single-cell RNA sequencing revealed that Dcaf17 plays a crucial regulatory role during the early stages of spermatogenesis, affecting gene expression and biological processes essential for healthy sperm production.
Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters.
JCEM Case Rep
August 2024
Department of Medical Genetics, Sechenov University, 119991 Moscow, Russia.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder associated with progressive extrapyramidal signs, mental retardation, alopecia, and a variety of endocrine deficiencies, including diabetes mellitus, hypogonadism, and hypothyroidism. To date, approximately 98 genetically confirmed WSS families have been reported worldwide. This report focuses on a new genetic variant detected in 2 WSS-affected sisters with distinctive phenotypical features.
View Article and Find Full Text PDFWoodhouse-Sakati syndrome: A review.
Rev Neurol (Paris)
January 2025
Department of Medical and Surgical Sciences, and Advanced Technologies, "G.F. Ingrassia", Azienda Ospedaliera Universitaria "G. Rodolico-San Marco", University of Catania, Catania, Italy. Electronic address:
Neurodegeneration with brain iron accumulation (NBIA) is a rare and inherited spectrum of movement disorders caused by mutations affecting the function of proteins that participate in the homeostasis of tissue metals such as iron or copper and other metabolic pathways, although the precise function of the proteins encoded are not always known. Woodhouse-Sakati Syndrome (WSS) is one of the rarest NBIAs. Patients with WSS are characterized by endocrinological and neurological manifestations and neuroradiological findings.
View Article and Find Full Text PDFThe Successful Management of Primary Amenorrhea in Woodhouse-Sakati Syndrome: A Case Report and a Literature Review.
Life (Basel)
October 2023
Clinical Sciences Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia.
Background: Woodhouse-Sakati syndrome (WSS) is a rare multisystemic disease resulting from an autosomal recessive gene mutation characterized by distinctive facial appearance, alopecia, impaired HbA1c, and hypogonadism.
Purpose: To present the successful management of primary amenorrhea in a WSS patient.
Case Presentation: We report a 19-year-old Saudi female referred to the gynecology clinic at the age of 16 as a case of primary amenorrhea.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!