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- W2330756145 abstract "Abstract The early‐onset classic form of panthotenate kinase‐associated neurodegeneration ( PKAN ) is a rare genetic disorder of brain iron deposition associated with mutations in the pantothenate kinase 2 gene. Genetic testing was performed in 17 patients with early‐onset classic PKAN and 2 atypical patients identified from a clinic database. Seventeen patients with early‐onset classic disease exhibited pathogenic mutations in the panthotenate kinase 2 ( PANK 2) gene. One atypical patient had an indeterminate result and the other atypical case was later confirmed to have late‐onset GM 1 gangliosidosis. Of the 17, 13 belonged to the Agrawal community, with a common truncating mutation, c.215_216insA, in the homozygous state in all, which is highly suggestive of a founder effect. Of the remaining 4 patients, 2 had novel mutations. PKAN is the third neurological disease after megelencephalic leukoencephalopathy with subcortical cysts and calpainopathy with founder mutations in the Agrawal community." @default.
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- W2330756145 date "2016-04-05" @default.
- W2330756145 modified "2023-09-25" @default.
- W2330756145 title "Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients" @default.
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- W2330756145 doi "https://doi.org/10.1002/mdc3.12341" @default.
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