Clinical Neurology and Neurosurgery 115 (2013) 1170–1172 Contents lists available at SciVerse ScienceDirect Clinical Neurology and Neurosurgery j o ur nal hom epage: www.elsevier.com/locate/clineuro Case report A novel PANK2 gene mutation in a Persian boy: The first report from Iran Omid Aryani a , Massoud Houshmand a , Farzad Fatehi b,c,* a Special Medical Center, Department of Medical Genetics, Tehran, Iran b Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran c Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran a r t i c l e i n f o Article history: Received 13 February 2012 Received in revised form 21 September 2012 Accepted 2 October 2012 Available online 30 October 2012 Keywords: PANK2 gene mutation Neurodegeneration with brain iron accumulation PKAN Hallervorden–Spatz disease Pantothenate kinase-associated neurodegeneration Iran 1. Introduction Pantothenate kinase-associated neurodegeneration (PKAN) or neurodegeneration with brain iron accumulation encompasses all autosomal recessive disorders of iron deposition which simply classified by Hayflick et al. [1] as early onset, rapid pro- gressive group including classic pantothenate kinase-associated neurodegeneration (PANK2 gene), classic infantile neuroaxonal dystrophy (PLA2G6 gene), atypical neuroaxinal dystrophy (PLA2G6 gene), idiopathic NBIA and late onset, slower progressive group comprising atypical PKAN (PANK2 gene), neuroferritinopathy (FTL gene), aceruloplasminemia (CP gene), and idiopathic NBIA [1]. PKAN has been classified into two phenotypic groups: classic and atypical forms [1]. This is based on age of onset, rate of disease progression and the symptoms and signs. Typically in classic PKAN, onset is between 3 and 4 years of age and is rapidly progressive. The predominant neurological * Corresponding author at: Neurology Department, Shariati Hospital, Tehran Uni- versity of Medical Sciences, North Kargar Street, Tehran, Iran. Tel.: +98 912 818 6300. E-mail addresses: f-fatehi@sina.tums.ac.ir, fatehifa@gmail.com (F. Fatehi). features are extrapyramidal, of which, dystonia is an early fea- ture; pyramidal signs, cognitive decline and retinal changes are, in addition, prominent characteristics [1]. The atypical form presents by the end of second decade with slower progression and principally neurobehavioral features. Over 100 mutations have been recognized worldwide [2]; herein, we describe the clinical, radiological, and molecular find- ings of a classic PKAN patient of Iranian descent with a novel frameshift mutation in the coding region of the PANK2 gene. 2. Case report A 7-year-old boy was referred to Special Medical Center, Medical Genetics Department in Tehran, because of psychomotor regres- sion, speech and walking difficulties. He was the product of a consanguineous marriage (first cousins healthy parents) and was born in full term; the delivery and postnatal period was unevent- ful. He had four older sibs, aged 10, 13, 16 and 19 years who were apparently normal. The child had normal achievement of early developmental mile- stones in infancy. He walked at 16 months but at the age of 2, his parents noticed his unsteady gait and frequent falls. After age 4, the disease rapidly progressed with severe generalized 0303-8467/$ – see front matter. Crown Copyright © 2012 Published by Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.clineuro.2012.10.004