Pantethonate kinase associated neurodegeneration (PKAN)
Evidence-based neurology checklist on pantethonate kinase associated neurodegeneration (pkan): Genetics and pathology This is caused by mutations in the PANK2 gene mutation in 50-70% of cases The transmission is autosomal recessive The mutation disrupts the vitamin B5 (pantethonate) metabolic…
Genetics and pathology
- This is caused by mutations in the PANK2 gene mutation in 50-70% of cases
- The transmission is autosomal recessive
- The mutation disrupts the vitamin B5 (pantethonate) metabolic pathways
- Brain iron accumulates particularly in the globus pallidus
- The onset is before the age of 6 years
Typical features
PKAN variant: HARP syndrome
Atypical PKAN
Magnetic resonance imaging (MRI) brain
Treatment
References
- Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009; 46:73-80.
- Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27:42-53.
- Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathol 2005; 43:286-296.
- Ayton S, Bush AI. Decreasing iron neurotoxicity in pantothenate kinase-associated neurodegeneration. Lancet Neurol 2019; 18:616-617.
- De Vloo P, Lee DJ, Dallapiazza RF, et al. Deep brain stimulation for pantothenate kinase-associated neurodegeneration: a meta-analysis. Mov Disord 2019; 34:264-273.
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