Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration
Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13. The objective of this report is to present a patient with atypical PKAN with the novel heterozygous PANK2...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Serbian Medical Society
2020-01-01
|
Series: | Srpski Arhiv za Celokupno Lekarstvo |
Subjects: | |
Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2020/0370-81792000005S.pdf |
id |
doaj-1334be64b2504557ad8d68808b1f3ff1 |
---|---|
record_format |
Article |
spelling |
doaj-1334be64b2504557ad8d68808b1f3ff12021-01-02T11:26:58ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792020-01-011483-420320610.2298/SARH190812005S0370-81792000005SNovel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegenerationSvetel Marina0Novaković Ivana1Tomić Svetlana2Kresojević Nikola3Kostić Vladimir4Neurology Clinic, Clinical Centre of Serbia, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Institute for Human Genetics, Belgrade, SerbiaJosip Juraj Strossmayer University of Osijek, School of Medicine, Osijek University Hospital Center, Clinical Department of Neurology, Osijek, CroatiaNeurology Clinic, Clinical Centre of Serbia, Belgrade, SerbiaNeurology Clinic, Clinical Centre of Serbia, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaIntroduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13. The objective of this report is to present a patient with atypical PKAN with the novel heterozygous PANK2 mutation. Case outline. We present a 32-year-old female who had disease onset at the age 20 (depression, speech, chewing problems and backward falls) with progressive course. Neurological examination revealed hypomimia, risus sardonicus, dysphagia, tachylalia and severe dystonic dysarthria, moderate arms, legs, and jaw-opening dystonia, postural instability, urge incontinence, and decreased visual acuity. Brain magnetic resonance imaging revealed iron accumulation in the bilateral globus pallidus and putamen (“eye-of-the-tiger”), a radiological finding pathognomonic for PKAN. Genetic analysis revealed known mutation p.T528M (c.1583C>T) in exon 6, and novel p.Y405D (c.1213T>G) in exon 3 of the PANK2 gene. In silico analyses strongly suggested this mutation to be pathogenic. Conclusion. We report a patient with PKAN, and novel substitution p.Y405D (c.1213T>G) in PANK2 that has not been previously described in PKAN patients.http://www.doiserbia.nb.rs/img/doi/0370-8179/2020/0370-81792000005S.pdfneurodegeneration with brain iron accumulationpantothenate kinase-associated neurodegenerationpank2 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Svetel Marina Novaković Ivana Tomić Svetlana Kresojević Nikola Kostić Vladimir |
spellingShingle |
Svetel Marina Novaković Ivana Tomić Svetlana Kresojević Nikola Kostić Vladimir Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration Srpski Arhiv za Celokupno Lekarstvo neurodegeneration with brain iron accumulation pantothenate kinase-associated neurodegeneration pank2 |
author_facet |
Svetel Marina Novaković Ivana Tomić Svetlana Kresojević Nikola Kostić Vladimir |
author_sort |
Svetel Marina |
title |
Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration |
title_short |
Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration |
title_full |
Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration |
title_fullStr |
Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration |
title_full_unstemmed |
Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration |
title_sort |
novel pank2 mutation identified in patient with pantothenate kinase-associated neurodegeneration |
publisher |
Serbian Medical Society |
series |
Srpski Arhiv za Celokupno Lekarstvo |
issn |
0370-8179 |
publishDate |
2020-01-01 |
description |
Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13. The objective of this report is to present a patient with atypical PKAN with the novel heterozygous PANK2 mutation. Case outline. We present a 32-year-old female who had disease onset at the age 20 (depression, speech, chewing problems and backward falls) with progressive course. Neurological examination revealed hypomimia, risus sardonicus, dysphagia, tachylalia and severe dystonic dysarthria, moderate arms, legs, and jaw-opening dystonia, postural instability, urge incontinence, and decreased visual acuity. Brain magnetic resonance imaging revealed iron accumulation in the bilateral globus pallidus and putamen (“eye-of-the-tiger”), a radiological finding pathognomonic for PKAN. Genetic analysis revealed known mutation p.T528M (c.1583C>T) in exon 6, and novel p.Y405D (c.1213T>G) in exon 3 of the PANK2 gene. In silico analyses strongly suggested this mutation to be pathogenic. Conclusion. We report a patient with PKAN, and novel substitution p.Y405D (c.1213T>G) in PANK2 that has not been previously described in PKAN patients. |
topic |
neurodegeneration with brain iron accumulation pantothenate kinase-associated neurodegeneration pank2 |
url |
http://www.doiserbia.nb.rs/img/doi/0370-8179/2020/0370-81792000005S.pdf |
work_keys_str_mv |
AT svetelmarina novelpank2mutationidentifiedinpatientwithpantothenatekinaseassociatedneurodegeneration AT novakovicivana novelpank2mutationidentifiedinpatientwithpantothenatekinaseassociatedneurodegeneration AT tomicsvetlana novelpank2mutationidentifiedinpatientwithpantothenatekinaseassociatedneurodegeneration AT kresojevicnikola novelpank2mutationidentifiedinpatientwithpantothenatekinaseassociatedneurodegeneration AT kosticvladimir novelpank2mutationidentifiedinpatientwithpantothenatekinaseassociatedneurodegeneration |
_version_ |
1724355003134509056 |