ArticleMovement disorders clinical practice
Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients.
Article in Movement disorders clinical practice. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 4 citations in OpenAlex.
- Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.Frontiers in genetics · 2020Review
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3 authors at 3 institutions in 2 countries.
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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 (PANK2) gene. One atypical patient had an indeterminate result and the other atypical case was later confirmed to have late-onset GM1 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.
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