Clinical and Genetic Characterization of Woodhouse-Sakati Syndrome in Iranian Patients: A Case Series
We expand the clinical and genetic heterogeneity among Iranian patients and suggest the c.436delC variant as a founder mutation in the region. We highlight the importance of considering WSS in patients with both neurological and endocrine symptoms and suggest DBS as a potential treatment option.
Authors
- Afagh Alavi (ORCID: https://orcid.org/0000-0003-0390-2475)
- Shadab Salehpour (ORCID: https://orcid.org/0000-0002-0277-809X)
- Toktam Moosavian (ORCID: https://orcid.org/0000-0002-0404-9069)
- Seyed Amir Hassan Habibi (ORCID: https://orcid.org/0000-0001-6896-4779)
- Sepehr Khosravi (ORCID: https://orcid.org/0000-0002-2764-8128)
- Mohammad Rohani
Institutions
- Iran University of Medical Sciences (IR)
- Rasool Akram Hospital (IR)
- Firoozgar General Hospital (IR)
- University of Social Welfare and Rehabilitation Sciences (IR)
- Shahid Beheshti University of Medical Sciences (IR)
Publication Details
- Journal
- Journal of Movement Disorders
- Published
- 2025-04-16
- DOI
- https://doi.org/10.14802/jmd.25043
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00