Colony-stimulating factor-1 receptor-related disorder in the Hispanic population

Colony-stimulating factor-1 receptor (CSF1R)-related disorder (CSF1R-RD) is a rapidly progressive neurodegenerative disease that typically presents with a frontotemporal dementia-like phenotype with motor impairment, including pyramidal and extrapyramidal signs. Recognition of CSF1R-RD has increased with the availability of genetic testing, but most published cases are from Asia, Europe, and North America. Little is known about the prevalence of CSF1R-RD in Hispanic populations.

We collected cases of patients of Hispanic ethnicity with CSF1R-RD diagnosed at Mayo Clinic or centers in Mexico. Data collected included country of origin, ethnicity, sex, age, family history, clinical symptoms, age of symptom onset, and results of neuroimaging studies.

We identified a mutation in the CSF1R gene in 7 patients from 6 unrelated families, including a previously unreported variant, c.670T > A (p.Cys224Ser). Two patients resided in Mexico and 5 lived in the US (3 of Mexican ancestry, 2 of Puerto Rican ancestry). Five families had multiple cases of early dementia or movement disorders. In 4 patients, initial symptoms included behavioral and cognitive changes; 1 developed motor symptoms in the early stages. Mean (SD) age of onset was 28.6 (12.4) years. Three patients have progressed rapidly, requiring total care, 2 are moderately affected and still largely independent, and 2 remain asymptomatic. One patient underwent bone marrow transplantation which slowed symptom progression; 1 asymptomatic patient chose corticosteroid prophylaxis.

We highlight the presence of CSF1R-RD in Hispanic populations. As disease-modifying therapy for CSF1R-RD is available, there is a need to identify CSF1R-RD to facilitate treatment.