ArticleNeurology. Genetics2021
Progressive Ataxia and Neurologic Regression in
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Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3citing papers in PubMed
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3 citing papers in PubMed, 5 citations in OpenAlex.
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- Prediction of Weight Loss to Decrease the Risk for Type 2 Diabetes Using Multidimensional Data in Filipino Americans: Secondary Analysis.JMIR diabetes · 2023Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Essa AlharbyCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Mona ObaidCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Mohammed A O ElaminCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Makki AlmuntashriCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Ismail BakhshCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Manar SammanCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Roy W A PeakeCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Ali AlasmariCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Naif A M AlmontashiriCenter for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
King Fahad Specialist Hospital · SAKing Fahd Medical City · SABoston Children's Hospital · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify the genetic cause of a late-onset immunodeficiency and subacute progressive neurodegenerative disease affecting cognition, motor, visual, and cerebellar systems in a patient with a family history of 2 younger siblings with an early-onset immunodeficiency disease.
methodsPhysical examinations, immunologic, brain MRI, whole-exome sequencing, and segregation studies were used to identify the genetic and neuroimmunologic etiology of disease in this family.
resultsWe identified a homozygous loss-of-function (LOF) mutation (c.271+1G>C) in the
conclusionsIn addition to BLS type II, our study has expanded and further characterized the phenotype associated with the LOF of
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