Pantothenate kinase-associated neurodegeneration
| Disorder | |
|---|---|
| OMIM #: | #234200 (Click to access OMIM database) |
| Disorder: | Pantothenate kinase-associated neurodegeneration |
| Also known as: | PKAN Neurodegeneration with brain iron accumulation 1 Neuroaxonal dystrophy, juvenile-onset Hallervorden-Spatz disease |
| Clinical | |
| Phenotype: | progressive neurodegeneration, developmental regression, motor loss, involuntary movements, ataxia, iron accumulation in the brain, psychiatric abnormalities, optic atrophy, retinitis pigmentosa, dystonia, onset in first 2 decades of life |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | PANK2 |
| Base Change: | c.930_936delCTTTTGT |
| Amino Acid Change: | p.Phe311Profs*16 |
| Last updated: | 2022-11-11 |
| References |
|---|
| Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ. (1996) Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet Dec;14(4):479-81. PubMed ID: 8944032 |
| 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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