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        Repurposed ALS drug shows

        promise in mouse model of

        rare childhood genetic disorder

              iluzole, a drug approved to    the Ara Parseghian Medical          In the current study, mice with
              treat amyotrophic lateral      Research Foundation.                NPC1 survived 12% longer when
       Rsclerosis (ALS), a disease                                               treated with riluzole, compared to
        affecting nerve cells controlling    NPC1 results from an impaired       untreated mice. The researchers
        movement, could slow the gradual     ability to move cholesterol         believe that riluzole or similar drugs
        loss of a particular brain cell that   through cells, leading to difficulty   may provide a way to slow disease
        occurs in Niemann-Pick disease       controlling movements, liver and    progression in patients with NPC1.
        type C1 (NPC1), a rare genetic       lung disease, impaired swallowing,
        disorder affecting children and      intellectual decline and death.     Story Source:
        adolescents, suggests a study in     Much of the movement difficulties   Materials provided by NIH/Eunice
        mice by scientists at the National   in NPC1 result from gradual loss    Kennedy Shriver National Institute
        Institutes of Health.                of brain cells known as Purkinje    of Child Health and Human
                                             neurons. The researchers found      Development. Note: Content may be
        The study was conducted by           that mice with a form of NPC1       edited for style and length.
        Forbes D. Porter, M.D., Ph.D., of    have a diminished ability to lower
        NIH’s Eunice Kennedy Shriver         levels of glutamate -- a brain      Journal Reference:
        National Institute of Child Health   chemical that stimulates neurons    1. Antony Cougnoux, Julia C.
        and Human Development                -- after it has bound to a neuron’s   Yerger, Mason Fellmeth, Jenny
        (NICHD), and colleagues in           surface. High levels of glutamate   Serra-Vinardell, Fatemeh Navid,
        the National Human Genome            can be toxic to cells. The          Christopher A. Wassif, Niamh X.
        Research Institute and National      researchers believe the buildup     Cawley, Forbes D. Porter. Reduction
        Institute of Arthritis and           of glutamate contributes to the     of glutamate neurotoxicity: A novel
        Musculoskeletal and Skin Disease.    brain cell loss seen in the disease.   therapeutic approach for Niemann-
        It appears in Molecular Genetics     Riluzole blocks the release of      Pick disease, type C1. Molecular
        and Metabolism. The study was        glutamate and hence delays the      Genetics and Metabolism, 2021;
        supported in part by a grant from    progression of ALS in people.       DOI: 10.1016/j.ymgme.2021.11.008

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