Founder mutation in the PANK gene of Agrawal children with Neurodegeneration with Brain Iron accumulation (NBiA) Chabbria

R. Udani V, Das S, Shah R, Child Neurology, VeerSavarkar,Marg, Mahim, Mumbai, Maharastra, India Introduction NBIA is a progressive neurodegeneration occurring in childhood or adolescence with symptoms of dystonia, dysarrthria, rigidity, ballism, choreoathetosis, dementia, spasticity and pigmentary retinal degeneration. The characteristic type starts in childhood with a mean age of onset of 3 years. The gene responsible is the PANK2 gene located on chromosome 20p13-p12.3. We describe 6 children from the Agrawal community with NBIA who had the same mutation in the PANK2 gene suggesting that this is a founder mutation. Results 6 children were seen in the child neurology clinic by one of the authors (VU). There were 3 boys and girls. The mean age was 9.83 years (range: 7-13 y). There was no consanguinity and family history was positive in 1 family with a sib being affected. The disease onset was in the pre-school years with delay in walking / running. The symptoms progressed over the next few years with dystonia, rigidity, and 4 children are now bed-ridden. Nyctalopia was noted early in 4 patients at onset. MRI showed hyperintense signal in the globus pallidus initially which later evolved to the characteristic "eye of the tiger" sign. Ophthalmic examination confirmed retinal degeneration. DNA analysis in all 6 patients showed 215-216insA mutation in the homozygous state in exon 1c of the PANK2 gene. As the mutation was identical in all patients of the same community this suggests a founder mutation. The results will be discussed further.

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