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.
Lingua originale | Inglese |
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pagine (da-a) | 116-120 |
Numero di pagine | 5 |
Rivista | Neuroscience Letters |
Volume | 506 |
DOI | |
Stato di pubblicazione | Pubblicato - 2012 |
Keywords
- Adult
- Aged
- Aged, 80 and over
- Arginine
- CADASIL
- Cardiovascular Abnormalities
- Cholesterol
- Creatine Kinase
- Cysteine
- Disease Progression
- Electromyography
- Family Health
- Female
- Gene Frequency
- Genotype
- Humans
- Italy
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Muscle, Skeletal
- Mutation
- Neural Conduction
- Neurophysiology
- Neuropsychological Tests
- Phenotype
- Receptors, Notch
- Tomography, X-Ray Computed