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Your search keyword '"Cacchiò, G"' showing total 2 results
Start Over Author "Cacchiò, G" Publisher elsevier scientific publishers ireland
2 results on '"Cacchiò, G"'

1. Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.

Author

Ragno M, Pianese L, Cacchiò G, Manca A, Scarcella M, Silvestri S, Di Marzio F, Caiazzo AR, Silvaggio F, Tasca G, Mirabella M, and Trojano L

Subjects
Adult, Aged, Aged, 80 and over, CADASIL blood, CADASIL complications, CADASIL diagnosis, Cardiovascular Abnormalities etiology, Cholesterol metabolism, Creatine Kinase blood, Disease Progression, Electromyography, Female, Gene Frequency, Genotype, Humans, Italy, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal physiopathology, Neural Conduction, Neurophysiology, Neuropsychological Tests, Phenotype, Receptor, Notch3, Tomography, X-Ray Computed, Arginine genetics, CADASIL genetics, Cysteine genetics, Family Health, Mutation genetics, Receptors, Notch genetics
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., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Published
2012
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2. High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Author

Cappelli A, Ragno M, Cacchiò G, Scarcella M, Staffolani P, and Pianese L

Subjects
DNA Mutational Analysis, Female, Humans, Italy, Male, Mutation, Pedigree, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Receptor, Notch3, CADASIL genetics, Genetic Predisposition to Disease, Receptors, Notch genetics
Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease caused by mutations in NOTCH3 gene and clinically characterized by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. Direct sequencing of NOTCH3 gene in 90 Italian patients of sixty-three unrelated families identified four heterozygous mutations (R141C and C144F in exon 4, G528C in exon 10 and R1006C in exon 19) in fifteen probands and sixteen relatives. We detected seventeen heterozygous/homozygous polymorphisms, four of them novel. Here we report the high recurrence of R1006C mutation in ten families all originate from a restricted area of central Italy, the town of Ascoli Piceno and same neighbour villages. We also developed a PCR-Restriction Fragment Length Polymorphism (RFLP) assay to analyze the R1006C mutation. Our findings might suggest, for this mutation, the presence of a common ancestor.

Published
2009
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