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.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Ragno M,Pianese L,Cacchiò G,Manca A,Scarcella M,Silvestri S,Di Marzio F,Caiazzo AR,Silvaggio F,Tasca G,Mirabella M,Trojano Ldoi
10.1016/j.neulet.2011.10.062subject
Has Abstractpub_date
2012-01-06 00:00:00pages
116-20issue
1eissn
0304-3940issn
1872-7972pii
S0304-3940(11)01474-1journal_volume
506pub_type
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