Amish, Mennonite, and Hutterite
Genetic Disorder Database

Pantothenate kinase-associated neurodegeneration

Disorder
OMIM #: #234200  (Click to access OMIM database)
Disorder: Pantothenate kinase-associated neurodegeneration 
Also known as: PKAN
Neuroaxonal dystrophy, juvenile-onset
Hallervorden-Spatz disease 
Clinical
Phenotype: Neurodegenerative disorder, progressive, iron accumulation in the brain, optic atrophy, pigmentary rentinopathy, dystonia, onset in first 2 decades of life 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: PANK2
Base Change: del 627-633
Amino Acid Change: Frame shift
2   Amish  
Gene: PANK2
Base Change: G>A, at nucleotide 1261
Amino Acid Change: gly 411 --> arg
Last updated: 2019-01-18 

References
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden Spatz syndrome. Nature Genet. 28:345-349.
PubMed ID: 11479594 

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