First and foremost, leukodystrophy is a neurodegenerative disease that is always the result of both impairment and maintenance of myelin sheaths surrounding neuronal axons in the central nervous system as the result of a genetic mutation.
42.
Elevated levels of sulfatide are also associated with Metachromatic Leukodystrophy, which leads to the progressive loss of myelin as a result of sulfatide accumulation in the Schwann cells, oligodendrocytes, astrocytes, macrophages and neurons.
43.
A month later, doctors determined what the infant had wasn't cerebral palsy, but leukodystrophy, " which is about as bad as you can possibly ask for, " according to Kelly.
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But when the diagnosis turned to leukodystrophy, he said that he and his wife felt that " if ever there was ever a time to lend our name to a cause, this was it ."
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White matter degeneration is associated with and makes differential diagnoses out of other adult onset leukodystrophies such as metachromatic leukodystrophy ( MLD ), Krabbe disease ( globoid cell leukodystrophy ), and X-linked adrenoleukodystrophy ( X-ADL ).
46.
White matter degeneration is associated with and makes differential diagnoses out of other adult onset leukodystrophies such as metachromatic leukodystrophy ( MLD ), Krabbe disease ( globoid cell leukodystrophy ), and X-linked adrenoleukodystrophy ( X-ADL ).
47.
As soon as diagnostic testing was established, Moser began to fight for treatment of patients with ALD . Together with the parents association " United Leukodystrophy Foundation " he provided support and guidance for families stricken by this devastating illness.
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"' Krabbe disease "'( also known as "'globoid cell leukodystrophy "'or "'galactosylceramide lipidosis "') is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system.
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Turing Pharmaceuticals is also working on TRP-001 for glycogen storage disorders, TRP-002 for developmental disorder, TRP-003 for leukodystrophy, TRP-004 for toxoplasmosis, TRP-005 for epileptic encephalopathy, and TRP-011 for congenital metabolic disorder.
50.
Treatment is still being studied and evaluated, but mice studies indicate that treatments, including gene therapy, cell-based therapies using oligodendrocyte progenitors cells, enzyme replacement therapy, or lentiviral mediated gene therapy may prove to be effective in reducing the effects of Metachromatic Leukodystrophy.
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