Related Experiment Video

Updated: Aug 17, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

Anna Bersano1, Hugh Stephen Markus1, Silvana Quaglini1

  • 1From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

Stroke
|June 2, 2016
PubMed

Insights

A study found that 7% of stroke patients had a monogenic cause, higher than previously reported. Familial history, not risk factors, helped identify these genetic stroke disorders.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Stroke is a significant cause of morbidity and mortality.
  • Identifying underlying genetic causes of stroke is crucial for diagnosis and treatment.
  • Monogenic stroke disorders, though rare, can be associated with specific clinical features.

Purpose of the Study:

  • To investigate the prevalence of 5 single-gene disorders associated with stroke using a multicentre prospective study.
  • To apply specific diagnostic algorithms for identifying suspected monogenic stroke conditions.
  • To determine the diagnostic yield of genetic analysis in patients with suspected monogenic stroke.

Main Methods:

  • A prospective study enrolled patients admitted to stroke units in the Lombardia region.
  • Patients with stroke or transient ischemic attack of unknown cause, young age, positive family history, or specific features were considered probable cases.
  • Disease-specific diagnostic algorithms were applied, followed by genetic analysis for suspected monogenic disorders.

Main Results:

  • In 209 patients, the algorithm identified 227 with possible monogenic disease.
  • Genetic testing confirmed pathogenic mutations in 7% of these cases.
  • A familial history of stroke was the only significant predictor distinguishing mutated from non-mutated patients; conventional risk factors did not exclude genetic causes.

Conclusions:

  • Prescreening with a clinical algorithm identified monogenic causes in 7% of stroke patients.
  • This prevalence is higher than the 1% to 5% reported in previous studies.
  • Clinical algorithms are effective in identifying monogenic stroke disorders, highlighting the importance of genetic evaluation.
Abstract

Keywords:
CADASILFabry diseaseMELAS syndromeMarfan syndromecerebral amyloid angiopathy, familialgeneticsstroke

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
Pedigree Analysis01:35

Pedigree Analysis

Overview
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...