Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease

Tchelet Stern, Yara Hussein, Diogo Cordeiro, Hagit Sadis, Tali Garin-Shkolnik, Ronen Spiegel, Sagit Cohen, Ruth Harari, Ilana Schlesinger, Shani Stern

Research output: Contribution to journalArticlepeer-review

Abstract

Smith–Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual disability (ID), behavioral impairments, and sleep disturbances, as well as multiple organ anomalies in some affected individuals. The syndrome is caused by a deletion in the chromosome band around 17p11.2, including the Retinoic Acid Induced 1 (RAI1) gene, a multifaceted transcriptional regulator that modulates the expression of genes involved in cellular proliferation and neurodevelopment. This gene has a positive role in regulating BDNF and, importantly, affects several cell mechanisms and pathways such as the nigro-striatal pathway, which is crucial for motor function. Parkinson’s disease (PD) is one of the most common neurodegenerative diseases in older populations. It is characterized by various physical symptoms including tremors, loss of balance, bradykinesia, and a stooping posture. We present a case study of a patient diagnosed with both SMS and early-onset PD (at the age of 49). The association between both conditions is as yet ambiguous. Genome-wide association studies (GWAS) implicate an association between the RAI1 gene and PD. Similarly, the co-existence of both SMS and PD in the patient suggests a possible association between RAI1 copy number variations (CNVs) and PD, further indicating that RAI1 has strong implications for PD pathogenesis. Our results suggest that RAI1 CNVs and the pathophysiology of PD may be related, underscoring the need for further research in this field. Therefore, caregivers of SMS patients should pay careful attention to the possibility of their patients developing EOPD and should consider starting treatment for PD as soon as the first symptoms appear.

Original languageEnglish
Article number8447
JournalInternational Journal of Molecular Sciences
Volume25
Issue number15
DOIs
StatePublished - 2 Aug 2024

Bibliographical note

Publisher Copyright:
© 2024 by the authors.

Keywords

  • ID
  • neurodegenerative disease
  • PD
  • RAI1
  • SMS

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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