Pantothenate Kinase-Associated Neurodegeneration D006211

Related MeSH Hierarchy (5)

Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Basal Ganglia Diseases » Pantothenate Kinase-Associated Neurodegeneration

Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Neuroaxonal Dystrophies » Pantothenate Kinase-Associated Neurodegeneration

Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Movement Disorders » Pantothenate Kinase-Associated Neurodegeneration

Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Pantothenate Kinase-Associated Neurodegeneration

Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Pantothenate Kinase-Associated Neurodegeneration

Description

A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)   MeSH

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Phase 3 Indicated Drugs (2)

deferiprone (ferriprox)

fosmetpantotenate


Organization Involved with Phase 3 Indications (6)

Apotex

Foundation Neurological Institute C. Besta

Ludwig Maximilians University

Newcastle University

Travere

University of California, San Francisco

Organization Involved with Phase 2 Indications (1)

University of Genoa

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