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Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man
Olusegun John Oluwole1, Heba Ibrahim1, Debora Garozzo1
1Department of Neurology (O.J.O., A.M.H.) and Department of Radiology (H.I.), Neuro Spinal Hospital Dubai; Ain Shams University (H.I.), Cairo, Egypt; Department of Neurosurgery (D.G., K.B.H., A.K.M.) and Department of Clinical Pathology (S.I.M.H.), Neuro Spinal Hospital Dubai, United Arab Emirates; and Beni-Suef University (S.I.M.H.), Egypt.
Insights
This study details a rare case of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) in an African patient. A novel HTRA1 gene mutation was identified, expanding the known genetic landscape of this cerebrovascular disease.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare genetic cerebrovascular disorder.
- CARASIL typically affects individuals of Asian descent, presenting with progressive neurological deficits.
Purpose of the Study:
- To report a unique case of CARASIL in an African patient.
- To identify and characterize novel genetic mutations associated with CARASIL.
Main Methods:
- Case report of a 39-year-old Gabonese man with progressive neurological symptoms.
- Brain imaging (MRI) to assess white matter lesions and infarcts.
- Genetic screening to identify causative mutations in the HTRA1 gene.
Main Results:
- The patient presented with gait difficulty, tetraparesis, cognitive decline, and seizures.
- Brain MRI revealed diffuse white matter lesions and lacunar infarcts.
- Genetic analysis identified a novel, previously unreported HTRA1 gene variant (G283R).
Conclusions:
- This case expands the known ethnic prevalence of CARASIL beyond Asian populations.
- The discovery of a novel HTRA1 mutation contributes to understanding the genetic heterogeneity of CARASIL.
- Highlights the importance of genetic screening for diagnosing atypical CARASIL cases.
Objective:
To describe the case of an African patient who was diagnosed with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).
Methods:
Case report and literature review.
Results:
We present a 39-year-old Gabonese man who developed progressive gait difficulty at the age of 32, followed by insidious tetraparesis, urinary sphincter disturbance, spastic dysarthria, cognitive dysfunction, and seizures. Brain imaging was performed many years after disease onset and revealed diffuse confluent white matter lesions and lacunar infarcts. He tested negative for acquired white matter disease, but genetic screening detected a genetic variant of HTRA1 gene (G283R), which has not been previously reported.
Conclusions:
CARASIL is a disease that usually affects Asian patients. This case report describes a unique case of an African patient diagnosed with CARASIL and a novel genetic mutation in HTRA1 that has not been previously described in the literature.
