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CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients
The study enlarges the number of pathogenic NOTCH3 mutations and due to the heterogeneous mutational spectrum observed suggests that full sequencing of exons 2–24 is mandatory for CADASIL screening in the Italian population.
Psychiatric disturbances in CADASIL: a brief review
CADASIL is an inherited cerebrovascular disease clinically characterized by a variable combination of migraine, recurrent transient ischemic attack (TIA), lacunar strokes, cognitive decline, and mood disturbances.
Major depression and bipolar disorders in CADASIL: a study using the DSM‐IV semi‐structured interview
Major depression and bipolar disorders in CADASIL: a study using the DSM‐IV semi‐structured interview using the CADASil questionnaire finds that the former is more predictive of bipolar disorders than the latter.
The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: A Screening Tool to Select Patients for NOTCH3 Gene Analysis
The CADASIL scale is a simple and sufficiently accurate screening tool to select patients with a high probability to be affected by the disease and therefore to be subjected to the genetic testing.
Prediction of Impaired Performance in Trail Making Test in MCI Patients With Small Vessel Disease Using DTI Data
Feature ranking confirm that MD in several WM regions, not limited to the frontal lobes, are truly predictive of executive functions.
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family
Underlines that when CADASIL is suspected the genetic analysis should be performed on all the NOTCH3 exons coding for EGF-like repeats including exon 24 and confirms that CADASil may have heterogeneous phenotypes.
White Matter Microstructural Damage in Small Vessel Disease Is Associated With Montreal Cognitive Assessment But Not With Mini Mental State Examination Performances: Vascular Mild Cognitive
In patients with mild cognitive impairment and small vessel disease, diffusion tensor imaging-measured white matter microstructural damage is more related to MoCA than mini mental state examination performances, suggesting that MoCA is suited for the cognitive screening of patients with small vessels disease.
Stroke Genetics Network (SiGN) Study: Design and Rationale for a Genome-Wide Association Study of Ischemic Stroke Subtypes
The Stroke Genetics Network, with its emphasis on careful and standardized phenotyping of isChemic stroke and stroke subtypes, provides an unprecedented opportunity to uncover genetic determinants of ischemic stroke.
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review