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Panthotenate Kinase‐Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients
Author(s) -
Udani Vrajesh,
Das Soma,
Chhabria Rahul
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12341
Subject(s) - neurodegeneration , mutation , founder effect , medicine , genetics , genetic testing , disease , gene , bioinformatics , biology , pathology , allele , haplotype
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.