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Int J Mol Sci 2020 May 22;21(10). Epub 2020 May 22.

IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.

Pantothenate Kinase-associated Neurodegeneration (PKAN) belongs to a wide spectrum of diseases characterized by brain iron accumulation and extrapyramidal motor signs. PKAN is caused by mutations in PANK2, encoding the mitochondrial pantothenate kinase 2, which is the first enzyme of the biosynthesis of Coenzyme A. We established and characterized glutamatergic neurons starting from previously developed PKAN Induced Pluripotent Stem Cells (iPSCs). Read More

Neurocase 2020 Jun 20;26(3):175-182. Epub 2020 Apr 20.

The First Affiliated Hospital of Zhengzhou University, Zhengzhou University , Zhengzhou, Henan, China.

Panthothenate kinase-associated neurodegeneration (PKAN) is arare neurodegeneration caused by mutations in the pantothenate kinase () gene, which is located on chromosome 20p13. These mutations result in iron accumulation in the brain basal ganglia leading to parkinsonism, dysarthria, spasticity, cognitive impairment, and retinopathy. Herein, we report acase of adult-onset PKAN who presented with young-onset action tremor, bradykinesia, dysarthria, and bilateral interossei atrophy. Read More

Eur J Case Rep Intern Med 2020 13;7(3):001488. Epub 2020 Feb 13.

Service de Médecine Interne, Diabète et Maladies Métaboliques, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

We report the case of a 27-year-old man presenting with slowly progressive extrapyramidal dysfunction and learning disability considered to have a syndromic intellectual disability. The re-evaluation of the clinical features and the investigations performed led to the diagnosis of atypical pantothenate kinase-associated neurodegeneration (PKAN).

Learning Points: Patients with an intellectual disability should be carefully evaluated. Read More

CNS Neurosci Ther 2020 Feb 11. Epub 2020 Feb 11.

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

Aims: To investigate the natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.

Methods: We collected data of patients with PKAN by searching from available publications in English and Chinese. Patients diagnosed in our center (Peking University First Hospital) were also included. Read More

J Assoc Physicians India 2020 Jan;68(1):62

Gandhi Medical College.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020011. Epub 2020 Jan 1.

Postgraduate Research Institute of Science, Technology, Environment and Medicine, Limassol, Cyprus.

Deferiprone (L1) was originally designed, synthesised and screened in vitro and in vivo in 1981 by Kontoghiorghes G. J. following his discovery of the novel alpha-ketohydroxypyridine class of iron chelators (1978-1981), which were intended for clinical use. Read More

Biochim Biophys Acta Mol Basis Dis 2020 May 7;1866(5):165663. Epub 2020 Jan 7.

St. Jude Children's Research Hospital, Memphis, TN 38105-3678, USA. Electronic address:

Pantothenate kinase (PanK) is the first enzyme in the coenzyme A (CoA) biosynthetic pathway. The differential expression of the four-active mammalian PanK isoforms regulates CoA levels in different tissues and PANK2 mutations lead to Pantothenate Kinase Associated Neurodegeneration (PKAN). The molecular mechanisms that potentially underlie PKAN pathophysiology are investigated in a mouse model of CoA deficiency in the central nervous system (CNS). Read More

J Neurol Sci 2020 Mar 19;410:116639. Epub 2019 Dec 19.

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany. Electronic address:

J Child Neurol 2020 Mar 11;35(4):259-264. Epub 2019 Dec 11.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.

Background: Pantothenate kinase-associated neurodegeneration is characterized by severe, progressive dystonia. This study aims to describe the reported usage of cannabis products among children with pantothenate kinase-associated neurodegeneration.

Methods: A cross-sectional, 37-item survey was distributed in April 2019 to the families of 44 children who participate in a clinical registry of individuals with pantothenate kinase-associated neurodegeneration. Read More

Mov Disord Clin Pract 2019 Nov 25;6(8):704-707. Epub 2019 Oct 25.

Pediatric Neurology Department, Centro Materno Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal.

Background: Sensory tricks are a classic hallmark of primary dystonia and result in specific maneuvers that temporarily improve dystonic posture or movement. Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurological disorder that courses with prominent dystonia. Although previously described, sensory tricks are considered to be rare in PKAN. Read More

Neurol India 2019 Sep-Oct;67(5):1341-1343

Department of Neurology, Government General Hospital, Guntur Medical College, Guntur, Andhra Pradesh, India.

Neurodegeneration with brain iron accumulation (NBIA), previously called Hallervorden Spatz disease, is a group of disorders which share the hallmark of iron deposition in the brain. They are collectively characterized by extrapyramidal movement disorders, particularly those of parkinsonism, dystonia, cognitive regression, neuropsychiatric abnormalities, pyramidal features, optic atrophy, and retinal abnormalities. There is aberrant brain iron metabolism, with large amounts of iron deposited in the globus pallidus and the substantia nigra pars reticulata. Read More

Int J Neurosci 2020 May 27;130(5):490-492. Epub 2019 Nov 27.

IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy.

: Pantothenate Kinase-associated Neurodegeneration (PKAN) is a form of Neurodegeneration with brain iron accumulation (NBIA) due to gene mutations. Classical phenotype showed progressive neurological symptoms associated to a characteristic pattern of basal ganglia iron deposits. The atypical case, with adult-onset manifestation, could have neuropsychiatric symptoms with behavioral deficits. Read More

EMBO Mol Med 2019 12 29;11(12):e10489. Epub 2019 Oct 29.

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

Pantothenate kinase-associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation. Lack of a good mammalian model has impeded studies of pathogenesis and development of rational therapeutics. We took a new approach to investigating an existing mouse mutant of Pank2 and found that isolating the disease-vulnerable brain revealed regional perturbations in CoA metabolism, iron homeostasis, and dopamine metabolism and functional defects in complex I and pyruvate dehydrogenase. Read More

Zhonghua Yi Xue Za Zhi 2019 Oct;99(37):2926-2931

Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou 450003, China.

To explore the clinical features and analyze the chromosome 19 open reading frame 12(C19ORF12) gene mutation of a family with mitochondrial membrane protein-associated neurodegeneration (MPAN). The pedigree diagnosed as neurodegeneration with brain iron accumulation (NBIA) in Henan Provincial People's Hospital in May 2018 was collected, and clinical data of the patients in this family was further analyzed. Furthermore, whole exome sequencing (WES) was employed to identify the disease-causing genes. Read More

J Clin Neurol 2019 Oct;15(4):583-584

Department of Neurology, Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea.

Pediatr Neurol 2020 01 28;102:81-82. Epub 2019 Aug 28.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. Electronic address:

Mol Genet Metab 2019 12 12;128(4):463-469. Epub 2019 Sep 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Panthothenate kinase-associated neurodegeneration (PKAN, OMIM 234200), is an inborn is an autosomal recessive inborn error of metabolism caused by pathogenic variants in PANK2. PANK2 encodes the enzyme pantothenate kinase 2 (EC 2.7. Read More

Mov Disord 2019 10 4;34(10):1476-1477. Epub 2019 Sep 4.

Department of Neurology, Ludwig-Maximilians-Universität München, München, Germany.

J Neurol 2019 Dec 29;266(12):2962-2969. Epub 2019 Aug 29.

Clinic of Neurology, Clinical Center of Serbia, Dr. Subotica 6, Belgrade, Serbia.

Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with a progressive clinical course. In addition to symptomatic therapy, DBS has been increasingly recognized as a potential therapeutic strategy, especially in severe cases. Therefore, we wanted to report our experience regarding benefits of DBS in five PKAN cases in 3-year follow-up study. Read More

Cureus 2019 Jun 18;11(6):e4936. Epub 2019 Jun 18.

Neurology, University of Central Florida College of Medicine, Orlando, USA.

A 68-year-old male patient presented to the neurology clinic with tremor, lightheadedness, and a history of syncope. Exam showed mild Parkinsonism. Neuroimaging revealed symmetric lesions of the globus pallidus (the eye-of-the-tiger sign) concerning for neurodegeneration with brain iron accumulation (NBIA). Read More

Pediatr Neurol 2020 02 13;103:76-78. Epub 2019 Jun 13.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome.

Method: We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. Read More

Can J Neurol Sci 2019 11;46(6):782-784

The Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

Neurol India 2019 May-Jun;67(3):883-886

Department of Neurology, Government Mohan Kumaramangalam Medical College Hospital, Salem, Tamil Nadu, India.

J Integr Neurosci 2019 06;18(2):197-201

Department of Orthopaedics, Shandong Provincial Hospital Affiliated to Shandong University, No. 324 JingWu Road, 250021, Jinan, Shandong, P. R. China.

Neuroacanthocytosis is a rare progressive neurodegenerative disease, including Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, and pantothenate kinase-associated neurodegeneration, where Chorea-acanthocytosis occupies the main entity of this disease group. Here, a classic case of Chorea-acanthocytosis is reported that exhibited gradually deteriorating abnormal movements of limbs and face, swallowing difficulty, and lip and cheek biting for the past two years. Peripheral blood smears revealed that 35% of the red blood cells were acanthocytes and electron microcopy scans clearly showed the morphology of acanthocytes. Read More

Orphanet J Rare Dis 2019 07 12;14(1):174. Epub 2019 Jul 12.

Evidera, Inc, Bethesda, MD, USA.

Background: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).

Objectives: To assess PKAN diagnostic pathway, history, and burden across the spectrum of PKAN severity from patient and/or caregiver perspectives.

Methods: Caregivers of patients (n = 37) and patients themselves (n = 2) were interviewed in a validation study of the PKAN-Activities of Daily Living (ADL) scale. Read More

J Neurosurg Pediatr 2019 Jul 12:1-9. Epub 2019 Jul 12.

1Division of Neurosurgery, Department of Surgery, and.

Objective: Although deep brain stimulation (DBS) is an accepted treatment for childhood dystonia, there is significant heterogeneity in treatment response and few data are available to identify ideal surgical candidates.

Methods: Data were derived from a systematic review and individual patient data meta-analysis of DBS for dystonia in children that was previously published. Outcomes were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale for movement (BFMDRS-M) and for disability (BFMDRS-D). Read More

Nat Rev Neurol 2019 09;15(9):492-493

Nature Reviews Neurology, .

J Neural Transm (Vienna) 2019 08 24;126(8):997-1027. Epub 2019 Jun 24.

Institute of Clinical Neurobiology, Alberichgasse 5/13, 1150, Vienna, Austria.

Extrapyramidal movement disorders comprise hypokinetic-rigid and hyperkinetic or mixed forms, most of them originating from dysfunction of the basal ganglia (BG) and their information circuits that have been briefly reviewed in part 1 of the papers on neuropathology and pathogenesis of extrapyramidal movement disorders. The classification of hyperkinetic forms distinguishes the following: (1) chorea and related syndromes; (2) dystonias (dyskinesias); (3) tics and tourette disorders; (4) ballism; (5) myoclonic and startle disorders; and (6) tremor syndromes. Recent genetic and molecular classification distinguishes the following: (1) polyglutamine disorders (Huntington's disease and related disorders); (2) pantothenate kinase associated neurodegeneration; (3) Wilson's disease and related disorders; and (4) other hereditary neurodegenerations without hitherto detected genetic or specific markers. Read More

J Neural Transm (Vienna) 2019 08 18;126(8):933-995. Epub 2019 Jun 18.

Institute of Clinical Neurobiology, Alberichgasse 5/13, 1150, Vienna, Austria.

Extrapyramidal movement disorders include hypokinetic rigid and hyperkinetic or mixed forms, most of them originating from dysfunction of the basal ganglia (BG) and their information circuits. The functional anatomy of the BG, the cortico-BG-thalamocortical, and BG-cerebellar circuit connections are briefly reviewed. Pathophysiologic classification of extrapyramidal movement disorder mechanisms distinguish (1) parkinsonian syndromes, (2) chorea and related syndromes, (3) dystonias, (4) myoclonic syndromes, (5) ballism, (6) tics, and (7) tremor syndromes. Read More

J Exp Neurosci 2019 23;13:1179069519851118. Epub 2019 May 23.

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

Multiple approaches to therapy have been proposed for the rare inherited neurodegenerative disease associated with mutations in the gene, called pantothenate-kinase-associated neurodegeneration (PKAN). Penetration of the blood-brain barrier for treatment of a central nervous system (CNS) disorder is a major challenge in drug discovery. Evaluation of the biochemistry and medicinal chemistry of the proposed therapies reveals potential liabilities among several compounds under consideration for clinical development. Read More

Lancet Neurol 2019 07;18(7):631-642

Department of Hematology Oncology, UCSF Benioff Children's Hospital and Research Center Oakland, Oakland, CA, USA.

Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder characterised by progressive generalised dystonia and brain iron accumulation. We assessed whether the iron chelator deferiprone can reduce brain iron and slow disease progression.

Methods: We did an 18-month, randomised, double-blind, placebo-controlled trial (TIRCON2012V1), followed by a pre-planned 18-month, open-label extension study, in patients with PKAN in four hospitals in Germany, Italy, England, and the USA. Read More

Lancet Neurol 2019 07;18(7):616-617

Melbourne Dementia Research Centre, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia. Electronic address:

J Clin Neurosci 2019 Aug 11;66:187-190. Epub 2019 May 11.

Center for Medical Genomics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. Electronic address:

Pantothenate kinase-associated neurodegeneration (PKAN) is linked to brain iron accumulation caused by PANK2 gene mutation. Despite the importance of genetic testing to confirm PKAN and identify at risk parents, genetic screening is financially burdensome for developing countries like Thailand. Because genetic screeners are expensive and not reimbursed by the universal health care coverage system, they are not typically performed. Read More

Mov Disord Clin Pract 2019 Apr 5;6(4):332-334. Epub 2019 Apr 5.

Department of Medicine Hospital Sultanah Nur Zahirah Kuala Terengganu Malaysia.

Clin Trials 2019 08 6;16(4):410-418. Epub 2019 May 6.

8 Research & Development, Retrophin, Inc., San Diego, CA, USA.

Background/aims: Pantothenate kinase-associated neurodegeneration is a rare neurodegenerative disease with a variable clinical phenotype. Fosmetpantotenate is in clinical development as a replacement therapy that targets the underlying cause of pantothenate kinase-associated neurodegeneration. The FOsmetpantotenate Replacement Therapy pivotal trial-an ongoing phase 3, randomized, double-blind, placebo-controlled, multicenter trial-examines the efficacy and safety of fosmetpantotenate in patients with pantothenate kinase-associated neurodegeneration aged 6-65 years. Read More

Neurol Int 2019 Mar 11;11(1):7959. Epub 2019 Mar 11.

Iran University of Medical Sciences, Tehran.

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene () gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is sign in globus pallidus and not pathogenic and not found in all patients. Read More

Clin Neurophysiol 2019 06 26;130(6):877-878. Epub 2019 Mar 26.

Complex Motor Disorders Service, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.

J Neurol Sci 2019 May 28;400:44-46. Epub 2019 Feb 28.

Department of Neurology, Institute of Neurology, RuiJin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Laboratory of Neurodegenerative Diseases & Key Laboratory of Stem Cell Biology, Institute of Health Science, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

Mov Disord Clin Pract 2019 Feb 22;6(2):139-149. Epub 2019 Jan 22.

Evidera, Inc Bethesda Maryland USA.

Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive, neurodegenerative disorder with a mixed-motor phenotype caused by a defective PanK2 enzyme, for which there are few adequate treatment options. Clinimetrically sound measures of patient-reported outcomes are necessary to facilitate therapeutic development for this debilitating disease. This study's objective was to develop such a scale and assess its clinimetric properties. Read More

Neural Regen Res 2019 Jul;14(7):1177-1185

Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, Sevilla, Spain.

Neurodegeneration with brain iron accumulation is a broad term that describes a heterogeneous group of progressive and invalidating neurologic disorders in which iron deposits in certain brain areas, mainly the basal ganglia. The predominant clinical symptoms include spasticity, progressive dystonia, Parkinson's disease-like symptoms, neuropsychiatric alterations, and retinal degeneration. Among the neurodegeneration with brain iron accumulation disorders, the most frequent subtype is pantothenate kinase-associated neurodegeneration (PKAN) caused by defects in the gene encoding the enzyme pantothenate kinase 2 (PANK2) which catalyzed the first reaction of the coenzyme A biosynthesis pathway. Read More

Clin Neurophysiol 2019 04 25;130(4):469-473. Epub 2019 Jan 25.

Department of Neurology, Charité - Universitätsmedizin Berlin, Germany; NeuroCure, ExzellenzCluster, Charité - Universitätsmedizin Berlin, Germany; Berlin School of Mind and Brain, Humboldt-Universität zu Berlin, Germany. Electronic address:

Objectives: Neurodegeneration with Brain Iron Accumulation type I (NBIA-I) is a rare hereditary neurodegenerative disorder with pallidal degeneration leading to disabling generalized dystonia and parkinsonism. Pallidal or subthalamic deep brain stimulation can partially alleviate motor symptoms. Disease-specific patterns of abnormally enhanced oscillatory neuronal activity recorded from the basal ganglia have been described in patients with movement disorders undergoing deep brain stimulation (DBS). Read More

J Inherit Metab Dis 2019 01;42(1):49-56

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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Feb;36(2):175-178

Department of Pediatrics, West China Second University Hospital; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan 610041, China.

Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. Read More

Medicine (Baltimore) 2019 Jan;98(4):e14122

Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.

Rationale: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz Syndrome (HSS), is a rare neurodegeneration with brain iron accumulation from pantothenate kinase 2 gene (PANK2) mutation characterized as extrapyramidal symptoms. However, few studies involving PKAN patients were reported in China. This study was conducted to identify the genetic mutations in a Chinese boy with PKAN, and to review all PANK2 mutations reported in Chinese cases with PKAN. Read More

Mov Disord 2019 02 11;34(2):264-273. Epub 2019 Jan 11.

Division of Neurosurgery, Department of Surgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

Background: Pantothenate kinase-associated neurodegeneration is a rare autosomal-recessive disorder, characterized by progressive neurodegeneration associated with brain iron accumulation. DBS has been trialed to treat related movement disorders, particularly dystonia. The objective of this study was to determine the outcome and safety of DBS for pantothenate kinase-associated neurodegeneration. Read More

Spec Care Dentist 2019 Jan 12;39(1):56-58. 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 2019 Jan 2;59:20-28. Epub 2018 Nov 2.

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