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EAN 2015 PowerPoint Presentation

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Description : Pantothenate kinase-associated neurodegeneration (PKAN) is the most common autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). Less than ten mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical PKAN, confirmed by molecular analysis that revealed two trans-acting mutations.

Tags : pantothenate kinase,focal dystonia,adult onset

Published on : May 24, 2022 | Views : 1255 | Downloads : 0

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Slide 1-

Novel PANK2 mutation in the first Greek case with pantothenate-kinase-associated neurodegeneration presenting with adult-onset progressive focal dystonia
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Background/aims: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). Less than ten mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical PKAN, confirmed by molecular analysis that revealed two trans-acting mutations. A. Bougea1, C. Yapijakis1, G. Paraskevas1, E. Stamboulis1, E. Kapaki1 1National and Kapodistrian University of Athens. Athens, Greece, 1st Department of Neurology, Medical School, Athens/Greece
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Material and Methods: We present a 25-year-old Greek male with a 3-year history of focal orobucal dystonia and dysarthria, who was diagnosed with atypical PKAN according the NBIA criteria of Dooling and Swaiman. His brain MRI scan revealed the characteristic "eye-of-the-tiger" sign, but cognitive and laboratory evaluation were normal. There was no positive family history and patient’s parents originate from different parts of Greece. In patient’s blood DNA sample the seven exons of PANK2, including the exon/ intron boundaries, were sequenced. The detected mutations were verified by combination of PCR and rectriction enzyme analysis in the patient and were also investigated in blood DNA samples of the patient’s mother and of 100 healthy Greeks.
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Results: The patient had two mutations in combined heterozygosity (1424T>C, c.1583T>C), in exons 5 and 6 of PANK2, respectively. His mother was a carrier of one mutation only (c.1583T>C) previously reported in PKAN patients. Both mutations were absent in the database of single nucleotide polymorphisms of 1,000 genomes, and were not observed by restriction digestion analysis in the DNA samples of 100 healthy controls.
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Figure 1. Agarose gel electrophoresis of DNA samples after restriction cleavage of PCR fragments. M: 100bp ladder as size marker; (1-3) c.1583T>C alleles after incubation with PvuI; 1: healthy control TT, 2: patient T/C, 3: patient's mother T/C; (4-6): c.1424T>C alleles after incubation with NlaIII; 4: patient's mother T/T, 5: patient T/C, 6: healthy control T/T. Figure 2. Family with compound heterozygous PANK2 gene mutations. Proband with PKAN is indicated with an arrow. Square, male; circle, female; filled symbol: affected, semifilled symbol: carrier. Proband’s mother as carrier of 1583T>C PANK2 mutation is indicated below the symbol.
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Figure 3. T2-weighted brain MRI showing the “eye-of-the-tiger” sign (arrows) Conclusion: Our findings highlight the possible role of rare variants contributing to disease risk and possibly to variable clinical phenotype.