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Colony-stimulating factor-1 receptor-related disorder in the Hispanic population
Tomasz M Chmiela1, Edmar O Benitez2, Gabriela Ortiz-Cruz3
1Department of Neurology, Mayo Clinic Florida, Jacksonville, USA; Department of Neurology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland.
Parkinsonism & Related Disorders
|June 9, 2025
Summary
Colony-stimulating factor-1 receptor (CSF1R)-related disorder (CSF1R-RD) affects Hispanic populations, with early onset and varied progression. Identifying CSF1R-RD is crucial for available disease-modifying therapies.
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
- Rare Genetic Disorders
Background:
- Colony-stimulating factor-1 receptor (CSF1R)-related disorder (CSF1R-RD) is a progressive neurodegenerative condition.
- CSF1R-RD typically presents with frontotemporal dementia and motor impairments.
- Limited data exists on CSF1R-RD prevalence in Hispanic populations.
Purpose of the Study:
- To investigate the presence and characteristics of CSF1R-RD in Hispanic individuals.
- To expand the understanding of CSF1R-RD beyond Asian, European, and North American populations.
Main Methods:
- Case collection of Hispanic patients diagnosed with CSF1R-RD at Mayo Clinic and Mexican centers.
- Data included country of origin, ethnicity, clinical symptoms, and genetic analysis.
- Identification of CSF1R gene mutations.
Main Results:
- Seven patients from six families with CSF1R-RD were identified, including a novel variant (c.670T>A).
- Patients were from Mexico and the US (Mexican and Puerto Rican ancestry).
- Mean age of onset was 28.6 years, with varied disease progression and symptom presentation.
Conclusions:
- This study confirms the occurrence of CSF1R-RD in Hispanic populations.
- Early identification of CSF1R-RD is essential for initiating disease-modifying treatments.
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