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Literature summary for 2.7.1.33 extracted from

  • Schneider, S.A.; Walker, R.H.; Bhatia, K.P.
    The Huntingtons disease-like syndromes: what to consider in patients with a negative Huntingtons disease gene test (2007), Nat. Clin. Pract. Neurol., 3, 517-525.
    View publication on PubMed

Application

Application Comment Organism
medicine pantothenate-kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase (PANK2) on chromosome 20p13. PKAN is characterized clinically by extrapyramidal symptoms (in 98% of cases), in particular, generalized dystonia with oromandibular involvement, and parkinsonism-spasticity (25%), behavioral changes followed by dementia (29%), and pigmentary retinal degeneration. The mean age at onset is between 3 and 4 years Homo sapiens
medicine pantothenate-kinase-associated neurodegeneration is caused by mutations of the pantothenate kinase gene. Pantothenate-kinase-associated neurodegeneration is characterized clinically by extrapyramidal symptoms (in 98% of cases), in particular, generalized dystonia with oromandibular involvement, and parkinsonism-spasticity (25%), behavioral changes followed by dementia (29%), and pigmentary retinal degeneration. The mean age at onset is between 3 and 4 years Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Homo sapiens Q9BZ23
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Synonyms

Synonyms Comment Organism
PanK2
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Homo sapiens
pantothenate kinase 2
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Homo sapiens