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Spec Care Dentist 2018 Nov 12. Epub 2018 Nov 12.

Department of Oral and Maxillofacial Surgery, Royal Perth Hospital, Wellington Street, Perth, Western Australia.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare condition associated with severe protrusive lingual dystonia, a form of oromandibular dystonia. Dental appliance therapy has been described for oromandibular dystonia however there is a lack of literature regarding its application specifically to PKAN. In this report, the authors describe the use of an appliance in conjunction with botulinum toxin injections for the symptomatic treatment of this condition. Read More

J Clin Neurosci 2018 Nov 1. Epub 2018 Nov 1.

Department of Radiology, Xiangya Hospital, Central South University, No. 87 Xiangya Road, Changsha 410008, People's Republic of China. Electronic address:

Pantothenate kinase-associated neurodegeneration (PKAN) is extremely rare. In this study, we aimed to evaluate the magnetic resonance imaging (MRI) findings of PKAN patients. Conventional MRI and susceptibility weighted imaging (SWI) sequences and quantitative susceptibility mapping (QSM) maps of six patients from three PKAN families and eight healthy male volunteers were retrospectively analyzed. Read More

Brain Sci 2018 Oct 31;8(11). Epub 2018 Oct 31.

Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK.

Metal storage disorders (MSDs) are a set of rare inherited conditions with variable clinical pictures including neurological dysfunction. The objective of this study was, through a systematic review, to identify the prevalence of Parkinsonism in patients with MSDs in order to uncover novel pathways implemented in Parkinson's disease. Human studies describing patients of any age with an MSD diagnosis were analysed. Read More

Pharmaceuticals (Basel) 2018 Oct 22;11(4). Epub 2018 Oct 22.

F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania, 305 Stellar-Chance Laboratory, Philadelphia, PA 19104, USA.

Iron is essential for life, while excess iron can be toxic. Iron generates hydroxyl radical, which is the most reactive free radical, causing oxidative stress. Since iron is absorbed through the diet but not excreted from the body, it accumulates with age in tissues, including the retina, consequently leading to age-related toxicity. Read More

Nat Commun 2018 10 23;9(1):4399. Epub 2018 Oct 23.

Department of Infectious Diseases, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.

Pantothenate kinase (PANK) is a metabolic enzyme that regulates cellular coenzyme A (CoA) levels. There are three human PANK genes, and inactivating mutations in PANK2 lead to pantothenate kinase associated neurodegeneration (PKAN). Here we performed a library screen followed by chemical optimization to produce PZ-2891, an allosteric PANK activator that crosses the blood brain barrier. Read More

Pharmaceuticals (Basel) 2018 Oct 19;11(4). Epub 2018 Oct 19.

Center for the Treatment of Movement Disorders, Universidad de Santiago de Chile, Belisario Prat 1597, Santiago 83800000, Chile.

Iron chelation has been introduced as a new therapeutic concept for the treatment of neurodegenerative diseases with features of iron overload. At difference with iron chelators used in systemic diseases, effective chelators for the treatment of neurodegenerative diseases must cross the blood⁻brain barrier. Given the promissory but still inconclusive results obtained in clinical trials of iron chelation therapy, it is reasonable to postulate that new compounds with properties that extend beyond chelation should significantly improve these results. Read More

Anaesthesist 2018 Nov;67(11):871-877

Klinik für Anästhesiologie und Operative Intensivmedizin, Universitätsklinikum Köln (AöR), Köln, Deutschland.

Background: Neurodegeneration with brain iron accumulation (NBIA) forms a group of rare hereditary diseases with rapid neurodegenerative progression due to an abnormal accumulation of iron in the basal ganglia. This causes extrapyramidal symptoms as well as dystonia and mental retardation. The most common form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). Read More

Mol Neurobiol 2018 Sep 1. Epub 2018 Sep 1.

Centro Andaluz de Biología del Desarrollo (CABD-CSIC), Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. The most prevalent form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN) associated with mutations in the gene of pantothenate kinase 2 (PANK2), which is essential for coenzyme A (CoA) synthesis. There is no cure for NBIA nor is there a standard course of treatment. Read More

Neuromolecular Med 2018 Aug 23. Epub 2018 Aug 23.

Department of Molecular and Translational Medicine, University of Brescia, viale Europa 11, 25123, Brescia, Italy.

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a genetic and early-onset neurodegenerative disorder characterized by iron accumulation in the basal ganglia. It is due to mutations in Pantothenate Kinase 2 (PANK2), an enzyme that catalyzes the phosphorylation of vitamin B5, first and essential step in coenzyme A (CoA) biosynthesis. Most likely, an unbalance of the neuronal levels of this important cofactor represents the initial trigger of the neurodegenerative process, yet a complete understanding of the connection between PANK2 malfunctioning and neuronal death is lacking. Read More

J Anaesthesiol Clin Pharmacol 2018 Apr-Jun;34(2):278-279

Department of Anesthesia & Intensive Care, Dr Baba Saheb Ambedkar Hospital, New Delhi, India.

Int J Neurosci 2018 Aug 15:1-5. Epub 2018 Aug 15.

a Department of Neurology , The First Affiliated Hospital of Zhengzhou University, Zhengzhou University , Zhengzhou , PR China.

Aim: Pantothenate-kinase-associated neurodegeneration (PKAN), which is characterised by iron accumulation in the basal ganglia, is a rare autosomal recessive neurodegenerative disorder caused by pantothenate kinase 2 (PANK2) gene mutations. The PANK2 gene is located on chromosome 20p13 and encodes pantothenate kinase. Herein, we identified one patient with PKAN who had mutations in the PANK2 gene. Read More

Neurol Sci 2018 Jun 21. Epub 2018 Jun 21.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Kodakyar Ave., Daneshjo Blvd., Evin, P.O.BOX: 1985713834, Tehran, Iran.

Neurol Int 2018 Mar 4;10(1):7516. Epub 2018 Apr 4.

Kermanshah University of Medical Sciences, Kermanshah, Iran.

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the 2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and dementia. The hallmark of this disease is eyes of the tiger sign in the medial aspect of bilateral globus pallidus on T2-weighted MRI that is a hyperintense lesion surrounded by hypointensity. Read More

Medicine (Baltimore) 2018 May;97(20):e10709

Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University.

Rationale: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease. Progressive motor symptoms such as dystonia and spasticity begin in childhood and relentlessly become incapacitating later in life. Treatments including anticholinergics and iron chelation are usually ineffective. Read More

J Inherit Metab Dis 2018 May 16. Epub 2018 May 16.

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani centre for the study of mitochondrial disorders in children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, Milan, 20126, Italy.

Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in the inner portion of globus pallidus. Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway. Another very rare but similar disorder, denominated CoPAN, is caused by mutations in coenzyme A synthase gene (COASY) coding for a bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis. Read More

Ann Rehabil Med 2018 Apr 30;42(2):363-367. Epub 2018 Apr 30.

Department of Physical Medicine and Rehabilitation, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. Read More

Medicine (Baltimore) 2018 Apr;97(15):e0316

Department of Neurology, Children's Medical Center, Qilu Hospital of Shandong University, Brain Science Research Institute, Shandong University, Jinan, Shandong.

Rationale: Pantothenate kinase-associated neurodegeneration (PKAN) represents an autosomal recessive hereditary disease. In this report, a PANK2 gene mutation in a Chinese child was identified, as well as detections of PKAN among his family members. Our findings exposed a world-wide novel compound heterozygous mutation. Read More

Neurol Int 2017 Dec 15;9(4):7279. Epub 2018 Feb 15.

Iran University of Medical Sciences, Tehran, Iran.

Pantothenate kinase-associated neurodegeneration (PKAN) is the most common form of neurodegeneration with brain iron accumulation, it is an autosomal recessive disease due to mutation in PANK 2 on chromosome 20, which causes the accumulation of iron in basal ganglia and production of free radicals that cause degeneration of the cells. Deferiprone is an iron chelator that was used in treatment of thalassemia patients, it can cross the blood-brain barrier and reverse the iron deposition in the brain. Five patients with genetically confirmed PKAN received 15 mg/kg deferiprone twice daily. Read More

PLoS One 2018 9;13(3):e0192028. Epub 2018 Mar 9.

Medicinal Chemistry, IRBM Science Park SpA, Pomezia, Rome, Italy.

In cells, phosphorylation of pantothenic acid to generate phosphopantothenic acid by the pantothenate kinase enzymes is the first step in coenzyme A synthesis. Pantothenate kinase 2, the isoform localized in neuronal cell mitochondria, is dysfunctional in patients with pantothenate kinase-associated neurodegeneration. Fosmetpantotenate is a phosphopantothenic acid prodrug in clinical development for treatment of pantothenate kinase-associated neurodegeneration, which aims to replenish phosphopantothenic acid in patients. Read More

Acta Med Iran 2018 Jan;56(1):71-73

Student's Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.

Hallervorden-Spatz syndrome is a rare neurodegenerative disorder with hereditary properties. It usually occurs in young adolescents with extrapyramidal symptoms besides disturbed mental function. In this study, we present a 23-year-old neuropsychiatric patient who primarily misdiagnosed to have conversion disorder. Read More

AJNR Am J Neuroradiol 2018 Jan 25. Epub 2018 Jan 25.

From the Departments of Molecular and Medical Genetics (J.-H.L., A.G., P.H., C.R., S.J.H.)

Background And Purpose: A detailed delineation of the MR imaging changes in the globus pallidus in pantothenate kinase-associated neurodegeneration will be helpful for diagnosis and monitoring of patients. The aim of this study was to determine the morphologic spectrum of the "eye-of-the-tiger" sign and the topographic pattern of iron deposition in a group of patients with pantothenate kinase-associated neurodegeneration.

Materials And Methods: Seventy-four MR imaging scans from 54 individuals with mutations were analyzed for signal patterns in the globus pallidus. Read More

Handb Clin Neurol 2018 ;147:293-305

Departments of Molecular and Medical Genetics and Neurology, Oregon Health and Science University, Portland, OR, United States.

Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. Read More

Eur J Med Genet 2018 Nov 16;61(11):699-705. Epub 2017 Dec 16.

Division for Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, 01307 Dresden, Germany; DZNE, German Centre for Neurodegenerative Diseases, Research Site Dresden, 01307 Dresden, Germany. Electronic address:

Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. This clinically and genetically heterogeneous group of diseases shares main clinical features presenting most often as a hyperkinetic movement disorder. Even though these are long noted disease conditions, we still know only little on the underlying disease mechanisms. Read More

Psychiatr Danub 2017 12;29(4):507-509

Department of Neurology, University Clinical Centre Tuzla, Šetalište Slana banja Street 4/1, 75000 Tuzla, Bosnia and Herzegovina,

Orv Hetil 2017 Oct;158(43):1723-1727

Patológiai Osztály, Markusovszky Egyetemi Oktatókórház Szombathely, Markusovszky u. 5., 9700.

Introduction And Aim: A combination of Niemann-Pick- and Hallervorden-Spatz diseases led to the death of a 17-year-old boy in 1994. Genetic counseling necessitated further investigations in 2017. Meanwhile, the nomenclature of Hallervorden-Spatz disease has been abandoned. Read More

Zhonghua Er Ke Za Zhi 2017 Sep;55(9):678-682

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN). The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed. Twenty patients with classic PKAN were included in the study. Read More

PLoS One 2017 1;12(9):e0184104. Epub 2017 Sep 1.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

Mutations in PANK2 lead to neurodegeneration with brain iron accumulation. PANK2 has a role in the biosynthesis of coenzyme A (CoA) from dietary vitamin B5, but the neuropathological mechanism and reasons for iron accumulation remain unknown. In this study, atypical patient-derived fibroblasts were reprogrammed into induced pluripotent stem cells (iPSCs) and subsequently differentiated into cortical neuronal cells for studying disease mechanisms in human neurons. Read More

Mov Disord 2017 Nov 28;32(11):1620-1630. Epub 2017 Aug 28.

Unit of Pediatric Movement Disorders, Hospital Sant Joan de Déu, Barcelona, Spain.

Background: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration.

Methods: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. Read More

SAGE Open Med Case Rep 2017 16;5:2050313X17720101. Epub 2017 Jul 16.

First Department of Neurology, Cognitive and Movement Disorders Clinic, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-kinase-associated neurodegeneration, confirmed by molecular analysis that revealed two trans-acting mutations. Read More

Neurol India 2017 Jul-Aug;65(4):914-915

Department of Pediatrics, Sitaram Bhartia Institute of Science and Research, New Delhi, India.

Sci Rep 2017 Jul 5;7(1):4834. Epub 2017 Jul 5.

Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320, India.

Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of PKAN from the State of Jammu and Kashmir (J&K), India based on the clinical findings and genetic screening of two affected siblings born to consanguineous normal parents. The patients present with early-onset, progressive extrapyramidal dysfunction, and brain Magnetic Resonance imaging (MRI) suggestive of symmetrical iron deposition in the globus pallidi. Read More

Adv Neurobiol 2017 ;15:295-315

Division of Child Neurology, The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA.

The epileptic encephalopathies are severe and often treatment-resistant conditions that are associated with a progressive disturbance of brain function, resulting in a broad range of neurological and non-neurological comorbidities. The concept of epileptic encephalopathies entails that the encephalopathy aspect of the overall condition is primarily driven by the epileptic activity of the disease, which often manifests as specific and pathological features on the electroencephalogram. Genetic factors in epileptic encephalopathies are increasingly recognized. Read More

Clin Neuroradiol 2017 Dec 22;27(4):481-483. Epub 2017 Jun 22.

Department of Radiology, University Hospital of Bonn, Bonn, Germany.

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. Read More

Rev Neurol (Paris) 2017 Dec 16;173(10):658-662. Epub 2017 Jun 16.

Department of neurology, university hospital of Ben Aknoun, Algiers, Algeria.

Two clinical forms of pantothenate kinase-associated neurodegeneration (PKAN) have been described: typical PKAN and atypical PKAN. Atypical PKAN has later onset and a slower course of disease. This report describes two siblings with the atypical form of PKAN, combining dystonia, irritability and a dysmorphia syndrome. Read More

Case Rep Neurol Med 2017 16;2017:3247034. Epub 2017 Apr 16.

Neurology Clinics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity, and parkinsonism. Read More

Am J Med Genet A 2017 May 10. Epub 2017 May 10.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Read More

Mol Genet Metab 2017 06 18;121(2):180-189. Epub 2017 Apr 18.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy. Electronic address:

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). The PANK2 catalyzes the first step of coenzyme A (CoA) biosynthesis, a pathway producing an essential cofactor that plays a key role in energy and lipid metabolism. The majority of PANK2 mutations reduces or abolishes the activity of the enzyme. Read More

Neurosciences (Riyadh) 2017 Apr;22(2):156-157

Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail:

Int J Mol Cell Med 2016 23;5(4):255-259. Epub 2016 Oct 23.

Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthesis. Here we report two cases of classic PKAN syndrome with early onset of neurodegenerative disorder. Read More

Clin Neurol Neurosurg 2017 Mar 15;154:34-42. Epub 2017 Jan 15.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI has been a clue for the diagnosis. We aim to discuss clinical and genetic findings of 22 PKAN patients from 13 families. Read More

Neuromodulation 2017 Jul 5;20(5):484-491. Epub 2017 Jan 5.

Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, P. R. China.

Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN. Read More

Mol Genet Metab 2017 03 27;120(3):278-287. Epub 2016 Dec 27.

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA; Department of Neurology, Oregon Health & Science University, Portland, USA.

Parkinsonism Relat Disord 2017 03 21;36:98-99. Epub 2016 Dec 21.

Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

J Assist Reprod Genet 2017 Jan 4;34(1):109-116. Epub 2016 Nov 4.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.

Purpose: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation.

Methods: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification. Read More

EMBO Mol Med 2016 10 4;8(10):1197-1211. Epub 2016 Oct 4.

Proteomics of Iron Metabolism Unit, Division of Neuroscience San Raffaele Scientific Institute, Milan, Italy Vita-Salute San Raffaele University, Milan, Italy

Pantothenate kinase-associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available. PKAN is caused by mutations in PANK2, which encodes for the mitochondrial enzyme pantothenate kinase 2. Its function is to catalyze the first limiting step of Coenzyme A (CoA) biosynthesis. Read More

Arq Neuropsiquiatr 2016 Jul;74(7):587-96

Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;

Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. Read More

Arq Neuropsiquiatr 2016 Jul;74(7):517-8

Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brasil.

Rev Neurol (Paris) 2016 Aug - Sep;172(8-9):524-529. Epub 2016 Jul 28.

Service de neurologie, hôpital de Hautepierre, 1, avenue Molière, 67000 Strasbourg, France; Fédération de médecine translationnelle, 67000 Strasbourg, France.

Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Read More