Neurologic phenotypes associated with acanthocytosis

DOI HANDLE Web Site PubMed 被引用文献5件
  • R. H. Walker
    From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department...
  • H. H. Jung
    From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department...
  • C. Dobson-Stone
    From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department...
  • L. Rampoldi
    From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department...
  • A. Sano
    From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department...
  • F. Tison
    From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department...
  • A. Danek
    From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department...

書誌事項

公開日
2007-01-09
DOI
  • 10.1212/01.wnl.0000250356.78092.cc
公開者
Ovid Technologies (Wolters Kluwer Health)

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説明

The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome, but there are other movement disorders in which erythrocyte acanthocytosis may also be seen, such as Huntington disease-like 2 and pantothenate kinase-associated neurodegeneration. Disorders of serum lipoproteins such as Bassen-Kornzweig disease form a distinct group of neuroacanthocytosis syndromes in which ataxia is observed, but movement disorders are not seen. Genetic testing has enabled us to distinguish between these disorders, even when there are considerable similarities between phenotypes. Improved detection is important for accurate genetic counseling, for monitoring for complications, and, it is hoped, for implementing causal treatments, once these become available. As in other neurodegenerative conditions, animal models are a promising strategy for the development of such therapies.

収録刊行物

  • Neurology

    Neurology 68 (2), 92-98, 2007-01-09

    Ovid Technologies (Wolters Kluwer Health)

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