Useful links, training resources, evidence and publications – NBIA – ERN-RND | European Reference Network on Rare Neurological Diseases

Russo C, Ardissone A, Freri E, Gasperini S, Moscatelli M, Zorzi G, Panteghini C, Castellotti B, Garavaglia B, Nardocci N, Chiapparini L. Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of beta-Propeller Protein-Associated Neurodegeneration. Mov Disord Clin Pract 2019;6:51-6. (To be released in November 2019)
Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Swett L, Revicki DA, Bender RH, Lenderking WR. A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration. Mov Disord Clin Pract 2019;6:139-49.
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomas M, Camino-Leon R, Fernandez-Ramos J, Jimenez-Escrig A, Poo P, O’Callaghan M, Ortez C, Nascimento A, Fernandez Mesaque RC, Madruga M, Arrabal L, Roldan S, Gomez-Martin H, Garrido C, Temudo T, Jou-Munoz C, Muchart J, Huisman T, Poretti A, Lupo V, Espinos C, Perez-Duenas B. PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. Parkinsonism Relat Disord 2018.
Candela S, Vanegas MI, Darling A, Ortigoza-Escobar JD, Alamar M, Muchart J, Climent A, Ferrer E, Rumia J, Perez-Duenas B. Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results. J Neurosurg Pediatr 2018;22:416-25.
Hogarth P, Kurian MA, Gregory A, Csanyi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ. Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). Mol Genet Metab 2017;120:278-87.
Darling A, Tello C, Marti MJ, Garrido C, Aguilera-Albesa S, Tomas Vila M, Gaston I, Madruga M, Gonzalez Gutierrez L, Ramos Lizana J, Pujol M, Gavilan Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutierrez F, Garcia PJ, Vela L, Hernandez Lahoz C, Ortigoza Escobar JD, Marti Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhaes M, Stamelou M, Cuadras Palleja D, Rodriguez-Blazquez C, Martinez-Martin P, Lupo V, Stefanis L, Pons R, Espinos C, Temudo T, Perez Duenas B. Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study. Mov Disord 2017;32:1620-30.
Aoun M, Corsetto PA, Nugue G, Montorfano G, Ciusani E, Crouzier D, Hogarth P, Gregory A, Hayflick S, Zorzi G, Rizzo AM, Tiranti V. Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN. Mol Genet Metab 2017;121:180-9.
Schneider SA, Zorzi G, Nardocci N. Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population. Curr Treat Options Neurol 2013;15:652-67.
Hartig M, Prokisch H, Meitinger T, Klopstock T. Mitochondrial membrane protein-associated neurodegeneration (MPAN). Int Rev Neurobiol 2013;110:73-84.
Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab 2012;105:463-71.
Kalman B, Lautenschlaeger R, Kohlmayer F, Buchner B, Kmiec T, Klopstock T, Kuhn KA. An international registry for neurodegeneration with brain iron accumulation. Orphanet J Rare Dis 2012;7:66.
Hartig MB, Prokisch H, Meitinger T, Klopstock T. Pantothenate kinase-associated neurodegeneration. Curr Drug Targets 2012;13:1182-9.
Zorzi G, Zibordi F, Chiapparini L, Bertini E, Russo L, Piga A, Longo F, Garavaglia B, Aquino D, Savoiardo M, Solari A, Nardocci N. Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov Disord 2011;26:1756-9.
Lalli S, Canavese C, Zorzi G, Nardocci N, Albanese A. Diagnostic issues in childhood and adult dystonia. Expert Opin Med Diagn 2011;5:483-500.
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 2011;89:543-50.
Chiapparini L, Savoiardo M, D’Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N. The “eye-of-the-tiger” sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration. Neuropediatrics 2011;42:159-62.
Castiglioni E, Finazzi D, Goldwurm S, Levi S, Pezzoli G, Garavaglia B, Nardocci N, Malcovati L, Porta MG, Galli A, Forni GL, Girelli D, Maccarinelli F, Poli M, Ferrari M, Cremonesi L, Arosio P. Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients. Genet Test Mol Biomarkers 2010;14:793-6.
Klopstock T, Elstner M, Lucking CB, Muller-Myhsok B, Gasser T, Botz E, Lichtner P, Hortnagel K. Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease. Neurosci Lett 2005;379:195-8.
Hortnagel K, Nardocci N, Zorzi G, Garavaglia B, Botz E, Meitinger T, Klopstock T. Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. Neurology 2004;63:922-4.