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Filter Results:

Year

  • 2015 (1)
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Author

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Search Results for all work with filters:

  • Jinnah, Hyder
  • Biology, Neuroscience
  • biomedicin
  • ataxia
  • Neurology: Movement Disor

Work 1-2 of 2

Sorted by relevance

Article

Cp/Heph mutant mice have iron-induced neurodegeneration diminished by deferiprone.

by Liangliang Zhao; Majda Hadziahmetovic; Chenguang Wang; Xueying Xu; Ying Song; Hyder Jinnah; Jolanta Wodzinska; Jared Iacovelli; Natalie Wolkow; Predrag Krajacic; Alyssa Cwanger Weissberger; John Connelly; Michael Spino; Michael K. Lee; James Connor; Benoit Giasson; Z. Leah Harris; Joshua L. Dunaief

2015

Subjects
  • Health Sciences, Opthamology
  • Biology, Neuroscience
  • File Download
  • View Abstract

Abstract:Close

Brain iron accumulates in several neurodegenerative diseases and can cause oxidative damage, but mechanisms of brain iron homeostasis are incompletely understood. Patients with mutations in the cellular iron-exporting ferroxidase ceruloplasmin (Cp) have brain iron accumulation causing neurodegeneration. Here, we assessed the brains of mice with combined mutation of Cp and its homolog hephaestin. Compared to single mutants, brain iron accumulation was accelerated in double mutants in the cerebellum, substantia nigra, and hippocampus. Iron accumulated within glia, while neurons were iron deficient. There was loss of both neurons and glia. Mice developed ataxia and tremor, and most died by 9 months. Treatment with the oral iron chelator deferiprone diminished brain iron levels, protected against neuron loss, and extended lifespan. Ferroxidases play important, partially overlapping roles in brain iron homeostasis by facilitating iron export from glia, making iron available to neurons.

Article

Treatable Inherited Rare Movement Disorders

by Hyder Jinnah; Alberto Albanese; Kailash P. Bhatia; Francisco Cardoso; Gustavo Da Prat; Tom J. de Koning; Alberto J. Espay; Victor Fung; Pedro J. Garcia-Ruiz; Oscar Gershanik; Joseph Jankovic; Ryuji Kaji; Katya Kotschet; Connie Marras; Janis M. Miyasaki; Francesca Morgante; Alexander Munchau; Pramod Kumar Pal; Maria C. Rodriguez Oroz; Mayela Rodriguez-Violante; Ludger Schoels; Maria Stamelou; Marina Tijssen; Claudia Uribe Roca; Andres de la Cerda; Emilia M. Gatto

2018

Subjects
  • Biology, Neuroscience
  • Biology, Genetics
  • File Download
  • View Abstract

Abstract:Close

There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society.
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