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Keyword - Metachromatic leukodystrophy (KW-0478)

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Broader

Definition

Protein which, if defective, causes metachromatic leukodystrophy, a disease characterized by intralysosomal or myelin membrane storage of cerebroside-3-sulfate. Whereas storage occurs in many cells, the disease almost exclusively affects oligodendrocytes. Patients suffer from a progressive demyelination, which causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures and spastic tetraparesis.

Synonyms

  • Metachromatic leucodystrophy

Category

Disease

Graphical

LeukodystrophyDiseaseMetachromatic leukodystrophy
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