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Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation
Michele Ragno1, Luigi Pianese, Gabriella Cacchiò
1Division of Neurology, Mazzoni Hospital, Ascoli Piceno, Italy.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) shows varied organ involvement. This study on the R1006C mutation found gender-specific stroke prevalence and unique myopathic and cardiovascular features.
Area of Science:
- Neurology
- Genetics
- Cardiology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a multi-organ disease with variable clinical presentations.
- The R1006C mutation is a common cause of CADASIL, but its specific multi-organ impact requires detailed investigation.
Purpose of the Study:
- To conduct a comprehensive multi-organ assessment in individuals with the R1006C CADASIL mutation.
- To identify gender-related, myopathic, and cardiovascular peculiarities associated with this specific mutation.
Main Methods:
- A cohort of 39 individuals from 16 families in Central Italy with the R1006C CADASIL mutation were assessed.
- Evaluations included the nervous system, skeletal muscle, and cardiovascular system.
Main Results:
- Stroke prevalence was higher in female patients (66.7%) than in males (23.8%).
- Elevated creatine kinase (CK) levels, indicative of myopathy without mitochondrial changes, were observed in 21.6% of individuals.
- Atrial septal aneurysm was present in 10.3% of the cohort.
- No clear links were found between common cardiovascular risk factors and clinical manifestations.
Conclusions:
- The R1006C CADASIL mutation presents distinct gender-related stroke patterns, myopathic changes, and cardiovascular abnormalities.
- Comprehensive, multi-organ assessments are crucial for understanding CADASIL's clinical course, prognosis, and treatment strategies.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) may involve many target organs with relevant variability among affected individuals. We performed a multi-organ assessment tapping nervous system, skeletal muscle and cardiovascular system in thirty-nine individuals belonging to 16 families from Central Italy sharing the same R1006C CADASIL mutation. Stroke prevalence was larger in female patients (66.7%) than in males (23.8%); high levels of CKemia were quite frequent (21.6%) and were related to a myopathy without mitochondrial alterations; several individuals had atrial septal aneurysm (10.3%). No specific relationships between common cardiovascular risk factors and clinical manifestations were found. The present systematic study thus identified several gender-related, myopathic and cardiovascular peculiarities of R1006C mutation. This kind of comprehensive approach is necessary to define clinical course, prognosis and treatment options for a multi-organ disease such as CADASIL.
