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January 15, 2013; 80 (3) Article

New NBIA subtype

Genetic, clinical, pathologic, and radiographic features of MPAN

Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry-Kravis, Nicola C. Foulds, Simon R. Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay Reese, Randall L. Woltjer, Susan J. Hayflick
First published December 26, 2012, DOI: https://doi.org/10.1212/WNL.0b013e31827e07be
Penelope Hogarth
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Allison Gregory
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Michael C. Kruer
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Lynn Sanford
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Wendy Wagoner
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Marvin R. Natowicz
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Robert T. Egel
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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S.H. Subramony
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Jennifer G. Goldman
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Elizabeth Berry-Kravis
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Nicola C. Foulds
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Simon R. Hammans
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Isabelle Desguerre
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Diana Rodriguez
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Callum Wilson
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Andrea Diedrich
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Sarah Green
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Huong Tran
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Lindsay Reese
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Randall L. Woltjer
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Susan J. Hayflick
From the Departments of Neurology (P.H., S.J.H.), Molecular & Medical Genetics (P.H., A.G., L.S., W.W., S.J.H.), and Pediatrics (S.J.H.), and Section of Neuropathology, Department of Pathology (S.G., H.T., L.R., R.L.W.), Oregon Health & Science University, Portland; Pediatrics and Neurosciences (M.C.K.), Sanford School of Medicine at the University of South Dakota, Sioux Falls; Institutes of Genomic Medicine and Pathology and Laboratory Medicine (M.R.N.), Cleveland Clinic, Cleveland, OH; Departments of Neurology and Ophthalmology and Visual Sciences (R.T.E.), University of Illinois College of Medicine, Chicago; Department of Neurology (S.H.S.), University of Florida, Gainesville; Departments of Neurology (J.G.G.), Pediatrics (E.B.-K.), Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; UHS NHS Foundation Trust (N.C.F., S.R.H.) and Department of Human Genetics and Genomic Medicine, Faculty of Medicine (N.C.F.), University of Southampton, Southampton, UK; Paediatric Neurology Department (I.D.), Hopital Necker-Enfants Malades, Paris; APHP, Service Neuropediatrie (D.R.), Hopital Armand Trousseau and UPMC, Univ Paris 06, Paris, France; Newborn Metabolic Screening Unit (C.W.), Auckland City Hospital, Auckland, New Zealand; and Carolina Neurological Clinic (A.D.), Charlotte, NC.
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Full PDF
Citation
New NBIA subtype
Genetic, clinical, pathologic, and radiographic features of MPAN
Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry-Kravis, Nicola C. Foulds, Simon R. Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay Reese, Randall L. Woltjer, Susan J. Hayflick
Neurology Jan 2013, 80 (3) 268-275; DOI: 10.1212/WNL.0b013e31827e07be

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Abstract

Objective: To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype.

Methods: Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identified in 23 subjects. Direct examinations were completed on 8 of these individuals, and medical records were reviewed on all 23. Histochemical and immunohistochemical studies were performed on brain tissue from one deceased subject.

Results: A variety of mutations were detected in this cohort, in addition to the Eastern European founder mutation described previously. The characteristic clinical features of mitochondrial membrane protein-associated neurodegeneration (MPAN) across all age groups include cognitive decline progressing to dementia, prominent neuropsychiatric abnormalities, and a motor neuronopathy. A distinctive pattern of brain iron accumulation is universal. Neuropathologic studies revealed neuronal loss, widespread iron deposits, and eosinophilic spheroidal structures in the basal ganglia. Lewy neurites were present in the globus pallidus, and Lewy bodies and neurites were widespread in other areas of the corpus striatum and midbrain structures.

Conclusions: MPAN is caused by mutations in C19orf12 leading to NBIA and prominent, widespread Lewy body pathology. The clinical phenotype is recognizable and distinctive, and joins pantothenate kinase–associated neurodegeneration and PLA2G6-associated neurodegeneration as one of the major forms of NBIA.

GLOSSARY

MPAN=
mitochondrial membrane protein-associated neurodegeneration;
NBIA=
neurodegeneration with brain iron accumulation;
PD=
Parkinson disease;
PKAN=
pantothenate kinase–associated neurodegeneration;
PLAN=
PLA2G6-associated neurodegeneration;
SNP=
single nucleotide polymorphism

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Supplemental data at www.neurology.org

  • Received May 21, 2012.
  • Accepted August 30, 2012.
  • © 2012 American Academy of Neurology
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