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  1. Article ; Online: Developing a multidisciplinary HCV direct-acting antivirals utilization management and assessment program.

    Ajlan, Aziza A / Al-Gain, Roa'a / Ahmed, Mohamed / Abu-Riash, Tamadhor / Alquaiz, Mohammed / Alkhail, Faisal Aba / Alashgar, Hamad / Alkhairallah, Thamer / Alkortas, Delal / Al-Jedai, Ahmed

    Journal of the American Pharmacists Association : JAPhA

    2020  Volume 61, Issue 2, Page(s) e159–e170

    Abstract: Background: The introduction of direct-acting antivirals (DAAs) for the treatment of hepatitis C virus (HCV) infections has revolutionized outcomes for patients with HCV. Cost-effective use of these antivirals in addition to ensuring patient adherence ... ...

    Abstract Background: The introduction of direct-acting antivirals (DAAs) for the treatment of hepatitis C virus (HCV) infections has revolutionized outcomes for patients with HCV. Cost-effective use of these antivirals in addition to ensuring patient adherence is of paramount importance.
    Objectives: The goal of this article is to describe the processes by which a tertiary care, multisite institution managed the complexities involved in administering DAA treatment and managing the increased cost of therapy. Specifically, the objectives of this article are to describe the development of a multidisciplinary HCV management program and the role of pharmacists in this program, including formulary management strategies and monitoring of DAAs use in our institution, development of guidelines, electronic prescribing protocols and order sets, and specific outcomes based on a concurrent medication use evaluation.
    Practice description: King Faisal Specialist Hospital and Research Centre is a tertiary care referral hospital. As a tertiary referral hospital, it offers primary and highly specialized inpatient and outpatient medical care. The process of selecting and developing institutional HCV management program is described.
    Practice innovation: This article provides key details regarding how a multidisciplinary HCV program using DAAs can be implemented successfully at a tertiary care facility. Key facets of our innovation include establishing formulary guidelines, setting up eligibility criteria for patients, and establishing an HCV taskforce and multidisciplinary HCV program clinic.
    Evaluation: Medication use evaluations were regularly conducted to monitor sustained virologic response rates, adherence to guidelines, adverse reactions, and drug interactions.
    Methods: Formulary guidelines, setting up an eligibility criterion for patients, and an HCV taskforce and multidisciplinary HCV program clinic were established.
    Results: The involvement of pharmacists in a multidisciplinary HCV program in outpatient settings resulted in improved formulary decision making, reduction of costs, and improvement of adherence to institutional guidelines.
    Practice implications: The role of a pharmacist in the management of patients with HCV with DAAs is important. Pharmacists play an integral part in medication management and overall reduction in health care expenditure. Many disease management programs can be complemented with pharmacists to improve patient care and reduce cost.
    Conclusion: HCV treatment is challenging, and a multidisciplinary approach to treat HCV is critical. It is a rapidly evolving field; therefore, it requires dynamic formulary management and collaborative practice approaches to monitor pharmacotherapy carefully and efficiently. Clinical pharmacists play a pivotal role within the multidisciplinary team by providing support to both patients and health care providers with regard to the treatment of HCV.
    MeSH term(s) Antiviral Agents/therapeutic use ; Hepacivirus ; Hepatitis C/drug therapy ; Hepatitis C, Chronic ; Humans ; Sustained Virologic Response
    Chemical Substances Antiviral Agents
    Language English
    Publishing date 2020-12-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2118585-2
    ISSN 1544-3450 ; 1544-3191 ; 1086-5802
    ISSN (online) 1544-3450
    ISSN 1544-3191 ; 1086-5802
    DOI 10.1016/j.japh.2020.11.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center Experience.

    Bohlega, Saeed / Abou Al-Shaar, Hussam / Alkhairallah, Thamer / Al-Ajlan, Fahad / Hasan, Nael / Alkahtani, Khalid

    European neurology

    2015  Volume 74, Issue 5-6, Page(s) 227–236

    Abstract: Background: Levodopa therapy in Parkinson's disease (PD) is often associated with disabling motor and non-motor complications in patients with advanced disease due to the variable absorption of levodopa because of an irregular or erratic emptying of the ...

    Abstract Background: Levodopa therapy in Parkinson's disease (PD) is often associated with disabling motor and non-motor complications in patients with advanced disease due to the variable absorption of levodopa because of an irregular or erratic emptying of the gastric content.
    Methods: Prospective single movement disorder center study using pre-set selection criteria, unified PD scale (UPDRS III), non-motor symptoms scale (NMSS), and PD questionnaire-8 (PDQ-8) to evaluate the efficacy, safety, and long-term treatment outcomes using levodopa-carbidopa intestinal gel (LCIG) infusion in patients with advanced PD, who were followed up every 6 months.
    Results: Twenty patients were recruited over a period of 6 years. Disease duration prior to LCIG infusion ranged from 5 to 18 years (mean 11.4 ± 4.2). The mean follow-up time on LCIG therapy was 48.5 ± 23.2 months (range 11-83 months). Mean 'off' time, UPDRS III, NMSS, and PDQ-8 improvement were statistically significant. Two patients dropped out and 66.7% of patients required tube replacement.
    Conclusion: LCIG infusion monotherapy demonstrated significant improvement in reducing the 'off' time, reducing levodopa-induced dyskinesia, and improving non-motor symptoms and quality of life. This therapy is recommended for patients in whom motor fluctuations are inadequately treated with traditional oral PD therapy.
    MeSH term(s) Adult ; Aged ; Antiparkinson Agents/administration & dosage ; Antiparkinson Agents/adverse effects ; Carbidopa/administration & dosage ; Carbidopa/adverse effects ; Disability Evaluation ; Drug Combinations ; Duodenum/drug effects ; Female ; Gels ; Humans ; Infusions, Parenteral ; Intubation, Gastrointestinal ; Levodopa/administration & dosage ; Levodopa/adverse effects ; Long-Term Care ; Male ; Middle Aged ; Neurologic Examination/drug effects ; Parkinson Disease/diagnosis ; Parkinson Disease/drug therapy ; Prospective Studies ; Quality of Life
    Chemical Substances Antiparkinson Agents ; Drug Combinations ; Gels ; carbidopa, levodopa drug combination ; Levodopa (46627O600J) ; Carbidopa (MNX7R8C5VO)
    Language English
    Publishing date 2015
    Publishing country Switzerland
    Document type Clinical Study ; Journal Article
    ZDB-ID 209426-5
    ISSN 1421-9913 ; 0014-3022
    ISSN (online) 1421-9913
    ISSN 0014-3022
    DOI 10.1159/000442151
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

    Yemni, Eman Al / Monies, Dorota / Alkhairallah, Thamer / Bohlega, Saeed / Abouelhoda, Mohamed / Magrashi, Amna / Mustafa, Abeer / AlAbdulaziz, Basma / Alhamed, Mohamed / Baz, Batoul / Goljan, Ewa / Albar, Renad / Jabaan, Amjad / Faquih, Tariq / Subhani, Shazia / Ali, Wafa / Shinwari, Jameela / Al-Mubarak, Bashayer / Al-Tassan, Nada

    Scientific reports

    2019  Volume 9, Issue 1, Page(s) 3344

    Abstract: Genetic studies of the familial forms of Parkinson's disease (PD) have identified a number of causative genes with an established role in its pathogenesis. These genes only explain a fraction of the diagnosed cases. The emergence of Next Generation ... ...

    Abstract Genetic studies of the familial forms of Parkinson's disease (PD) have identified a number of causative genes with an established role in its pathogenesis. These genes only explain a fraction of the diagnosed cases. The emergence of Next Generation Sequencing (NGS) expanded the scope of rare variants identification in novel PD related genes. In this study we describe whole exome sequencing (WES) genetic findings of 60 PD patients with 125 variants validated in 51 of these cases. We used strict criteria for variant categorization that generated a list of variants in 20 genes. These variants included loss of function and missense changes in 18 genes that were never previously linked to PD (NOTCH4, BCOR, ITM2B, HRH4, CELSR1, SNAP91, FAM174A, BSN, SPG7, MAGI2, HEPHL1, EPRS, PUM1, CLSTN1, PLCB3, CLSTN3, DNAJB9 and NEFH) and 2 genes that were previously associated with PD (EIF4G1 and ATP13A2). These genes either play a critical role in neuronal function and/or have mouse models with disease related phenotypes. We highlight NOTCH4 as an interesting candidate in which we identified a deleterious truncating and a splice variant in 2 patients. Our combined molecular approach provides a comprehensive strategy applicable for complex genetic disorders.
    MeSH term(s) DNA Copy Number Variations ; Exons ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Parkinson Disease/genetics ; Sequence Deletion ; Ubiquitin-Protein Ligases/genetics ; Whole Exome Sequencing
    Chemical Substances Ubiquitin-Protein Ligases (EC 2.3.2.27) ; parkin protein (EC 2.3.2.27)
    Language English
    Publishing date 2019-03-04
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-019-40102-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

    Alkhairallah Thamer S / Khalil Dania S / Al Sharif Latifa J / Shinwari Jameela M / Bohlega Saeed A / Al Tassan Nada A

    BMC Medical Genetics, Vol 12, Iss 1, p

    2011  Volume 27

    Abstract: Abstract Background Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). ... ...

    Abstract Abstract Background Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). Patients are mainly characterized by cerebellar ataxia and oculomotor apraxia. Although these forms are not quite distinctive phenotypically, different genes have been linked to these disorders. Mutations in the APTX gene were reported in AOA1 patients, mutations in SETX gene were reported in patients with AOA2 and mutations in MRE11 were identified in ATLD patients. In the present study we describe in detail the clinical features and results of genetic analysis of 9 patients from 4 Saudi families with ataxia and oculomotor apraxia. Methods This study was conducted in the period between 2005-2010 to clinically and molecularly characterize patients with AOA phenotype. Comprehensive sequencing of all coding exons of previously reported genes related to this disorder ( APTX , SETX and MRE11 ). Results A novel nonsense truncating mutation c.6859 C > T, R2287X in SETX gene was identified in patients from one family with AOA2. The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia. Conclusion Mutations in APTX , SETX and MRE11 are common in patients with autosomal recessive ataxia and oculomotor apraxia. The results of the comprehensive screening of these genes in 4 Saudi families identified mutations in SETX and MRE11 genes but failed to identify mutations in APTX gene.
    Keywords Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Subject code 616 ; 610
    Language English
    Publishing date 2011-02-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center Experience

    Bohlega, Saeed / Abou Al-Shaar, Hussam / Alkhairallah, Thamer / Al-Ajlan, Fahad / Hasan, Nael / Alkahtani, Khalid

    European Neurology

    2015  Volume 74, Issue 5-6, Page(s) 227–236

    Abstract: Background: Levodopa therapy in Parkinson's disease (PD) is often associated with disabling motor and non-motor complications in patients with advanced disease due to the variable absorption of levodopa because of an irregular or erratic emptying of the ... ...

    Abstract Background: Levodopa therapy in Parkinson's disease (PD) is often associated with disabling motor and non-motor complications in patients with advanced disease due to the variable absorption of levodopa because of an irregular or erratic emptying of the gastric content. Methods: Prospective single movement disorder center study using pre-set selection criteria, unified PD scale (UPDRS III), non-motor symptoms scale (NMSS), and PD questionnaire-8 (PDQ-8) to evaluate the efficacy, safety, and long-term treatment outcomes using levodopa-carbidopa intestinal gel (LCIG) infusion in patients with advanced PD, who were followed up every 6 months. Results: Twenty patients were recruited over a period of 6 years. Disease duration prior to LCIG infusion ranged from 5 to 18 years (mean 11.4 ± 4.2). The mean follow-up time on LCIG therapy was 48.5 ± 23.2 months (range 11-83 months). Mean ‘off' time, UPDRS III, NMSS, and PDQ-8 improvement were statistically significant. Two patients dropped out and 66.7% of patients required tube replacement. Conclusion: LCIG infusion monotherapy demonstrated significant improvement in reducing the ‘off' time, reducing levodopa-induced dyskinesia, and improving non-motor symptoms and quality of life. This therapy is recommended for patients in whom motor fluctuations are inadequately treated with traditional oral PD therapy.© 2015 S. Karger AG, Basel
    Keywords Parkinson’s disease ; Duodopa ; Levodopa-carbidopa intestinal gel infusion ; Dyskinesia ; Motor fluctuation ; Saudi Arabia
    Language English
    Publisher S. Karger AG
    Publishing place Basel
    Publishing country Switzerland
    Document type Article ; Online
    ZDB-ID 209426-5
    ISSN 1421-9913 ; 0014-3022 ; 0014-3022
    ISSN (online) 1421-9913
    ISSN 0014-3022
    DOI 10.1159/000442151
    Database Karger publisher's database

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  6. Article: Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center Experience

    Bohlega, Saeed / Abou Al-Shaar, Hussam / Alkhairallah, Thamer / Al-Ajlan, Fahad / Hasan, Nael / Alkahtani, Khalid

    European Neurology

    2015  Volume 74, Issue 5-6, Page(s) 227–236

    Abstract: Background: Levodopa therapy in Parkinson's disease (PD) is often associated with disabling motor and non-motor complications in patients with advanced disease due to the variable absorption of levodopa because of an irregular or erratic emptying of the ... ...

    Institution Movement Disorder Program, Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University, and Division of Gastroenterology, Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Abstract Background: Levodopa therapy in Parkinson's disease (PD) is often associated with disabling motor and non-motor complications in patients with advanced disease due to the variable absorption of levodopa because of an irregular or erratic emptying of the gastric content. Methods: Prospective single movement disorder center study using pre-set selection criteria, unified PD scale (UPDRS III), non-motor symptoms scale (NMSS), and PD questionnaire-8 (PDQ-8) to evaluate the efficacy, safety, and long-term treatment outcomes using levodopa-carbidopa intestinal gel (LCIG) infusion in patients with advanced PD, who were followed up every 6 months. Results: Twenty patients were recruited over a period of 6 years. Disease duration prior to LCIG infusion ranged from 5 to 18 years (mean 11.4 ± 4.2). The mean follow-up time on LCIG therapy was 48.5 ± 23.2 months (range 11-83 months). Mean ‘off' time, UPDRS III, NMSS, and PDQ-8 improvement were statistically significant. Two patients dropped out and 66.7% of patients required tube replacement. Conclusion: LCIG infusion monotherapy demonstrated significant improvement in reducing the ‘off' time, reducing levodopa-induced dyskinesia, and improving non-motor symptoms and quality of life. This therapy is recommended for patients in whom motor fluctuations are inadequately treated with traditional oral PD therapy.
    Keywords Dyskinesia ; Motor fluctuation ; Duodopa ; Levodopa-carbidopa intestinal gel infusion ; Saudi Arabia ; Parkinson’s disease
    Language English
    Publishing date 2015-12-01
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Original Paper
    ZDB-ID 209426-5
    ISSN 1421-9913 ; 0014-3022
    ISSN (online) 1421-9913
    ISSN 0014-3022
    DOI 10.1159/000442151
    Database Karger publisher's database

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  7. Article ; Online: Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

    Bohlega, Saeed A / Shinwari, Jameela M / Al Sharif, Latifa J / Khalil, Dania S / Alkhairallah, Thamer S / Al Tassan, Nada A

    BMC medical genetics

    2011  Volume 12, Page(s) 27

    Abstract: Background: Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). ... ...

    Abstract Background: Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). Patients are mainly characterized by cerebellar ataxia and oculomotor apraxia. Although these forms are not quite distinctive phenotypically, different genes have been linked to these disorders. Mutations in the APTX gene were reported in AOA1 patients, mutations in SETX gene were reported in patients with AOA2 and mutations in MRE11 were identified in ATLD patients. In the present study we describe in detail the clinical features and results of genetic analysis of 9 patients from 4 Saudi families with ataxia and oculomotor apraxia.
    Methods: This study was conducted in the period between 2005-2010 to clinically and molecularly characterize patients with AOA phenotype. Comprehensive sequencing of all coding exons of previously reported genes related to this disorder (APTX, SETX and MRE11).
    Results: A novel nonsense truncating mutation c.6859 C > T, R2287X in SETX gene was identified in patients from one family with AOA2. The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia.
    Conclusion: Mutations in APTX , SETX and MRE11 are common in patients with autosomal recessive ataxia and oculomotor apraxia. The results of the comprehensive screening of these genes in 4 Saudi families identified mutations in SETX and MRE11 genes but failed to identify mutations in APTX gene.
    MeSH term(s) Adolescent ; Adult ; Amino Acid Sequence ; Amino Acid Substitution ; Apraxias/genetics ; Ataxia Telangiectasia/genetics ; Base Sequence ; Cerebellar Ataxia/congenital ; Chromosome Mapping ; Codon, Nonsense ; DNA/genetics ; DNA Helicases ; DNA Mutational Analysis ; DNA-Binding Proteins/genetics ; Female ; Genetic Variation ; Humans ; Hypoalbuminemia/genetics ; MRE11 Homologue Protein ; Male ; Multifunctional Enzymes ; Mutation ; Mutation, Missense ; Nuclear Proteins/genetics ; Pedigree ; RNA Helicases/genetics ; Saudi Arabia ; Spinocerebellar Ataxias/congenital ; Spinocerebellar Degenerations/genetics ; Young Adult
    Chemical Substances APTX protein, human ; Codon, Nonsense ; DNA-Binding Proteins ; MRE11 protein, human ; Multifunctional Enzymes ; Nuclear Proteins ; DNA (9007-49-2) ; MRE11 Homologue Protein (EC 3.1.-) ; SETX protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-) ; RNA Helicases (EC 3.6.4.13)
    Language English
    Publishing date 2011-02-16
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1471-2350
    ISSN (online) 1471-2350
    DOI 10.1186/1471-2350-12-27
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Parkinson's Disease in Saudi Patients: A Genetic Study.

    Al-Mubarak, Bashayer R / Bohlega, Saeed A / Alkhairallah, Thamer S / Magrashi, Amna I / AlTurki, Maha I / Khalil, Dania S / AlAbdulaziz, Basma S / Abou Al-Shaar, Hussam / Mustafa, Abeer E / Alyemni, Eman A / Alsaffar, Bashayer A / Tahir, Asma I / Al Tassan, Nada A

    PloS one

    2015  Volume 10, Issue 8, Page(s) e0135950

    Abstract: Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided ... ...

    Abstract Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided clues to potential therapies. However, most of the studies focusing on the genetic component of PD have been performed on American, European and Asian populations, whereas Arab populations (excluding North African Arabs), particularly Saudis remain to be explored. Here we investigated the genetic causes of PD in Saudis by recruiting 98 PD-cases (sporadic and familial) and screening them for potential pathogenic mutations in PD-established genes; SNCA, PARKIN, PINK1, PARK7/DJ1, LRRK2 and other PD-associated genes using direct sequencing. To our surprise, the screening revealed only three pathogenic point mutations; two in PINK1 and one in PARKIN. In addition to mutational analysis, CNV and cDNA analysis was performed on a subset of patients. Exon/intron dosage alterations in PARKIN were detected and confirmed in 2 cases. Our study suggests that mutations in the ORF of the screened genes are not a common cause of PD in Saudi population; however, these findings by no means exclude the possibility that other genetic events such as gene expression/dosage alteration may be more common nor does it eliminate the possibility of the involvement of novel genes.
    MeSH term(s) Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Parkinson Disease/genetics ; Saudi Arabia
    Language English
    Publishing date 2015
    Publishing country United States
    Document type Clinical Trial ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0135950
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: CADASIL in Arabs: clinical and genetic findings.

    Bohlega, Saeed / Al Shubili, Asmahan / Edris, Abdulrahman / Alreshaid, Abdulrahman / Alkhairallah, Thamer / AlSous, M Walid / Farah, Samir / Abu-Amero, Khaled K

    BMC medical genetics

    2007  Volume 8, Page(s) 67

    Abstract: Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by ... ...

    Abstract Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to chromosome 19. CADASIL cases have been identified in most countries of Western and Central Europe, the Americas, Japan, Australia, the Caribbean, South America, Tanzania, Turkey, South Africa and Southeast Asia, but not in Arabs.
    Methods: We studied three families from Saudi Arabia (Family A), Kuwait (Family B) and Yemen (Family C) with 19 individuals affected by CADASIL.
    Results: The mean age of onset was 31 +/- 6 and the clinical presentation included stroke in 68%, subcortical dementia in 17% and asymptomatic leukoariosis detected by MRI in 15%. Migraine and depression were frequently associated, 38% and 68% respectively. The mean age of death was 56 +/- 11. All NOTCH3 exons were screened for mutations, which revealed the presence of previously reported mutations c.406C>T (p.Arg110>Cys) in two families (family A&B) and c.475C>T (p.Arg133>Cys) mutation in family C.
    Conclusion: CADASIL occurs in Arabs, with clinical phenotype and genotype similar to that in other ethnic groups.
    MeSH term(s) Aged ; Arabs ; CADASIL/ethnology ; CADASIL/genetics ; DNA Mutational Analysis ; Exons ; Female ; Humans ; Kuwait ; Male ; Middle Aged ; Pedigree ; Receptor, Notch3 ; Receptors, Notch/genetics ; Saudi Arabia ; Yemen
    Chemical Substances NOTCH3 protein, human ; Receptor, Notch3 ; Receptors, Notch
    Language English
    Publishing date 2007-11-09
    Publishing country England
    Document type Journal Article
    ISSN 1471-2350
    ISSN (online) 1471-2350
    DOI 10.1186/1471-2350-8-67
    Database MEDical Literature Analysis and Retrieval System OnLINE

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