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Journal of Neurology

Issue 1/2014

Content (35 Articles)

Open Access Review

Update on the diagnosis and treatment of neuromyelitis optica: Recommendations of the Neuromyelitis Optica Study Group (NEMOS)

Corinna Trebst, Sven Jarius, Achim Berthele, Friedemann Paul, Sven Schippling, Brigitte Wildemann, Nadja Borisow, Ingo Kleiter, Orhan Aktas, Tania Kümpfel

Original Communication

Distributed corpus callosum involvement in amyotrophic lateral sclerosis: a deterministic tractography study using q-ball imaging

G. Caiazzo, D. Corbo, F. Trojsi, G. Piccirillo, M. Cirillo, M. R. Monsurrò, F. Esposito, Gioacchino Tedeschi

Original Communication

Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1

Hannah M. Kersten, Richard H. Roxburgh, Nicholas Child, Philip J. Polkinghorne, Chris Frampton, Helen V. Danesh-Meyer

Original Communication

Is reduced myocardial sympathetic innervation associated with clinical symptoms of autonomic impairment in idiopathic Parkinson’s disease?

Daniel Guidez, Stefanie Behnke, Ramona Halmer, Ulrich Dillmann, Klaus Faßbender, Carl M. Kirsch, Dirk Hellwig, Jörg Spiegel

Original Communication

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy

Loretta Racis, Alessandra Tessa, Roberto Di Fabio, Eugenia Storti, Virgilio Agnetti, Carlo Casali, Filippo M. Santorelli, Maura Pugliatti

Original Communication

Papilloedema is an independent prognostic factor for POEMS syndrome

RongTai Cui, ShengYuan Yu, XuSheng Huang, JiaTang Zhang, ChengLin Tian, ChuanQiang Pu

Original Communication

The effect of an APOE polymorphism on cognitive function depends on age

Min-Ho Shin, Sun-Seog Kweon, Jin-Su Choi, Young-Hoon Lee, Hae-Sung Nam, Kyeong-Soo Park, Hee N. Kim, Hye-Rim Song, Byeong C. Kim, Seong-Min Choi, Sun-Young Oh, Seul-Ki Jeong

Open Access Original Communication

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

Brook Galna, Jane Newman, Djordje G. Jakovljevic, Matthew G. Bates, Andrew M. Schaefer, Robert McFarland, Douglass M. Turnbull, Michael I. Trenell, Gráinne S. Gorman, Lynn Rochester

Original Communication

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

Gauthier Remiche, Dario Ronchi, Francesca Magri, Costanza Lamperti, Andreina Bordoni, Maurizio Moggio, Nereo Bresolin, Giacomo P. Comi

Original Communication

Differential diagnoses to MS: experiences from an optic neuritis clinic

Henrik Horwitz, Tina Friis, Signe Modvig, Hanne Roed, Anna Tsakiri, Bjarne Laursen, Jette Lautrup Frederiksen

Open Access Original Communication

The cost-effectiveness of deep brain stimulation in combination with best medical therapy, versus best medical therapy alone, in advanced Parkinson’s disease

Simon Eggington, Francesc Valldeoriola, K. Ray Chaudhuri, Keyoumars Ashkan, Elena Annoni, Günther Deuschl

Original Communication

Striatal hand in Parkinson’s disease: the re-evaluation of an old clinical sign

Francesca Spagnolo, M. Fichera, S. Bucello, E. Houdayer, D. Baroncini, L. Sarro, E. Leopizzi, M. Impellizzeri, V. Martinelli, L. Leocani, G. Comi, M. A. Volonté

Original Communication

Isolated vestibular nuclear infarction: report of two cases and review of the literature

Hyo-Jung Kim, Seung-Han Lee, Jae Han Park, Jung-Yoon Choi, Ji-Soo Kim

Original Communication

Immune cell subtyping in the cerebrospinal fluid of patients with neurological diseases

M. C. Kowarik, V. Grummel, S. Wemlinger, D. Buck, M. S. Weber, A. Berthele, B. Hemmer

Original Communication

Impact of cerebro-spinal fluid biomarkers of Alzheimer’s disease in clinical practice: a multicentric study

François Mouton-Liger, David Wallon, Anne-Cécile Troussière, Rachida Yatimi, Julien Dumurgier, Eloi Magnin, Vincent de la Sayette, Emannuelle Duron, Nathalie Philippi, Emilie Beaufils, Audrey Gabelle, Bernard Croisile, Philippe Robert, Florence Pasquier, Didier Hannequin, Jacques Hugon, Claire Paquet

Original Communication

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Catherine L. Bladen, Rachel Thompson, Jacqueline M. Jackson, Connie Garland, Claire Wegel, Anna Ambrosini, Paolo Pisano, Maggie C. Walter, Olivia Schreiber, Anna Lusakowska, Maria Jedrzejowska, Anna Kostera-Pruszczyk, Ludo van der Pol, Renske I. Wadman, Ole Gredal, Ayse Karaduman, Haluk Topaloglu, Oznur Yilmaz, Vitaliy Matyushenko, Vedrana Milic Rasic, Ana Kosac, Veronika Karcagi, Marta Garami, Agnes Herczegfalvi, Soledad Monges, Angelica Moresco, Lilien Chertkoff, Teodora Chamova, Velina Guergueltcheva, Niculina Butoianu, Dana Craiu, Lawrence Korngut, Craig Campbell, Jana Haberlova, Jana Strenkova, Moises Alejandro, Alatorre Jimenez, Genaro Gabriel Ortiz, Gracia Viviana Gonzalez Enriquez, Miriam Rodrigues, Richard Roxburgh, Hugh Dawkins, Leanne Youngs, Jaana Lahdetie, Natalija Angelkova, Pascal Saugier-Veber, Jean-Marie Cuisset, Clemens Bloetzer, Pierre-Yves Jeannet, Andrea Klein, Andres Nascimento, Eduardo Tizzano, David Salgado, Eugenio Mercuri, Thomas Sejersen, Jan Kirschner, Karen Rafferty, Volker Straub, Kate Bushby, Jan Verschuuren, Christophe Beroud, Hanns Lochmüller

Open Access Original Communication

Pallidal stimulation for primary generalised dystonia: effect on cognition, mood and quality of life

Marjan Jahanshahi, Mariam Torkamani, Mazda Beigi, Leonora Wilkinson, Donna Page, Laura Madeley, Kailash Bhatia, Marwan Hariz, Ludvic Zrinzo, Patricia Limousin, Diane Ruge, Stephen Tisch

Original Communication

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

Mathieu Anheim, Ouhaïd Lagha-Boukbiza, Marie-Céline Fleury-Lesaunier, Maria-Paola Valenti-Hirsch, Edouard Hirsch, Hélène Gervais-Bernard, Emmanuel Broussolle, Stéphane Thobois, Marie T. Vanier, Philippe Latour, Christine Tranchant

Original Communication

Risk factors and prodromal markers and the development of Parkinson’s disease

Stefanie Lerche, Klaus Seppi, Stefanie Behnke, Inga Liepelt-Scarfone, Jana Godau, Philipp Mahlknecht, Alexandra Gaenslen, Kathrin Brockmann, Karin Srulijes, Heiko Huber, Isabel Wurster, Heike Stockner, Stefan Kiechl, Johann Willeit, Arno Gasperi, Klaus Fassbender, Werner Poewe, Daniela Berg

Open Access Original Communication

“I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy

Lorenza Magliano, Melania Patalano, Alessandra Sagliocchi, Marianna Scutifero, Antonella Zaccaro, Maria Grazia D’Angelo, Federica Civati, Erika Brighina, Giuseppe Vita, Gian Luca Vita, Sonia Messina, Maria Sframeli, Marika Pane, Maria Elena Lombardo, Roberta Scalise, Adele D’Amico, Giulia Colia, Michela Catteruccia, Umberto Balottin, Angela Berardinelli, Maria Chiara Motta, Corrado Angelini, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Roberta Battini, Guja Astrea, Giulia Ricci, Luisa Politano

Open Access Original Communication

High-level gait and balance disorders in the elderly: a midbrain disease?

Adèle Demain, G. W. Max Westby, Sara Fernandez-Vidal, Carine Karachi, Fabrice Bonneville, Manh Cuong Do, Christine Delmaire, Didier Dormont, Eric Bardinet, Yves Agid, Nathalie Chastan, Marie-Laure Welter

Original Communication

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

Sarah Doss, Katja Lohmann, Philip Seibler, Björn Arns, Thomas Klopstock, Christine Zühlke, Karen Freimann, Susen Winkler, Thora Lohnau, Mario Drungowski, Peter Nürnberg, Karin Wiegers, Ebba Lohmann, Sadaf Naz, Meike Kasten, Georg Bohner, Alfredo Ramirez, Matthias Endres, Christine Klein

Original Communication

Increased gait variability is associated with the history of falls in patients with cerebellar ataxia

Roman Schniepp, Max Wuehr, Cornelia Schlick, Sabrina Huth, Cauchy Pradhan, Marianne Dieterich, Thomas Brandt, Klaus Jahn

Letter to the Editors

Identification of anti-Sez6l2 antibody in a patient with cerebellar ataxia and retinopathy

Hiroaki Yaguchi, Ichiro Yabe, Hidehisa Takahashi, Fumihiko Okumura, Akiko Takeuchi, Kazuhiro Horiuchi, Takahiro Kano, Atsuhiro Kanda, Wataru Saito, Masaki Matsumoto, Keiichi I. Nakayama, Shigetsugu Hatakeyama, Hidenao Sasaki

Letter to the Editors

Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations

L. Di Toro Mammarella, A. Mignarri, C. Battisti, L. Monti, V. Bonifati, F. Rasi, A. Federico

Letter to the Editors

Five keys for diagnosing most vertigo, dizziness, and imbalance syndromes: an expert opinion

Thomas Brandt, Michael Strupp, Marianne Dieterich

Letter to the Editors

Unusual natalizumab-associated progressive multifocal leukoencephalopathy starting in the brainstem

Joachim Havla, Reinhard Hohlfeld, Tania Kümpfel

Letter to the Editors

“Sand-watch” spinal cord: a case of inferior cervical spinal cord atrophy

Peter Bede, Ronan Walsh, Andrew J. Fagan, Orla Hardiman

Letter to the Editors

Cortical dysfunction in cerebellar ataxia with antibodies to glutamic acid decarboxylase

Neil G. Simon, Steve Vucic, Ronald Joffe, Matthew C. Kiernan

Letter to the Editors

Fulminant myelitis with NMO IgG antibody following treatment with interferon alpha

Nida Usmani, Micheline McCarthy, Kottil W. Rammohan, Melissa R. Ortega

Letter to the Editors

A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion

Kensaku Kasuga, Takuya Konno, Kento Saito, Ayako Ishihara, Masatoyo Nishizawa, Takeshi Ikeuchi

Journal club

Risk and sub phenotype in Parkinson’s disease

R. A. Amin, N. P. Robertson

Pioneers in Neurology

Friedrich Theodor von Frerichs (1819–1885)

Julia Thormann, Holger Steinberg

Erratum

Erratum to: LRRK2 G2385R variant carriers of female Parkinson’s disease are more susceptible to motor fluctuation

Chao Gao, Hao Pang, Xiao-Guang Luo, Yan Ren, Hong Shang, Zhi-Yi He