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A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

Abstract：

:Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. Brain magnetic resonance imaging (MRI) shows the typical "eye-of-the-tiger" sign. The aim of the present study was to describe clinical, MRI and molecular findings in a 26-year-old male with atypical PKAN disease in whom, brain MRI scans showed bilateral pallidal T2-hypointensity with a small central region of T2-hyperintensity, resembling the "eye-of-the-tiger" typical image. Genetic analysis identified two mutations in PANK2: c.1561G>A and c.1663G>A, being the latter never described before. Due to limited phenotype-genotype correlation among patients with movement disorders, if "eye-of-the-tiger" brain MRI is present, PANK2 mutations investigation are needed to confirm PKAN disease.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Pérez-González EA,Chacón-Camacho OF,Arteaga-Vázquez J,Zenteno JC,Mutchinick OM

doi

10.1016/j.ejmg.2013.08.007

subject

Has Abstract

pub_date

2013-11-01 00:00:00

pages

606-8

issue

11

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(13)00182-1

journal_volume

56

pub_type

杂志文章

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