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 Showing 21-40 of 74 Articles
Original Investigation 
Samuel Groeschel, MD; Jörn-Sven Kühl, MD; Annette E. Bley, MD; Christiane Kehrer, MD; Bernhard Weschke, MD; Michaela Döring, MD; Judith Böhringer, PhD; Johanna Schrum, MD; René Santer, PhD; Alfried Kohlschütter, PhD; Ingeborg Krägeloh-Mann, MD, PhD; Ingo Müller, PhD
Includes: Supplemental Content

Importance  Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and without comparison with the natural course of the disease.

Objective  To compare the long-term outcome of ...

Original Investigation 
Louise-Laure Mariani, MD; Christelle Tesson, PhD; Perrine Charles, MD, PhD; Cécile Cazeneuve, MD; Valérie Hahn, MS; Katia Youssov, MD; Leorah Freeman, MD, PhD; David Grabli, MD, PhD; Emmanuel Roze, MD, PhD; Sandrine Noël, BSc; Jean-Noel Peuvion, BSc; Anne-Catherine Bachoud-Levi, MD, PhD; Alexis Brice, MD; Giovanni Stevanin, PhD; Alexandra Durr, MD, PhD
Includes: Supplemental Content

Importance  Huntington disease (HD), a prototypic monogenic disease, is caused by an expanded CAG repeat in the HTT gene exceeding 35 units. However, not all patients with an HD phenotype carry the pathological expansion in HTT, and the positive diagnosis rate is poor.

Objectives  To ...

Editorial: The Puzzle of Huntington Disease Phenocopies; Nicolas Dupré, MD, MSc, FCRP(C); Guy Rouleau, MD, PhD, FRCP(C)
Images in Neurology 
Tadeu A. Fantaneanu, MD; Shamik Bhattacharyya, MD; Tracey A. Milligan, MD; Page B. Pennell, MD

This case report describes a 57-year-old man with hemochromatosis and panhypopituitarism who presented with a 6-month history of word-finding difficulty, short-term memory loss, and rapidly cycling symptoms.

Comment & Response 
Daniel Weintraub, MD; Helen C. Kales, MD; Connie Marras, MD, PhD

In Reply We appreciate the thoughtful comments by Malaty et al regarding our recent publication in JAMA Neurology reporting an increased risk for mortality associated with antipsychotic use in Parkinson disease (PD).1 They noted that the study did not focus on patients with PD and psychosis specifically, ...

Comment & Response 
Irene A. Malaty, MD; Michael S. Okun, MD; Michael Jaffee, MD

To the Editor Weintraub et al1 recently published an article in JAMA Neurology on the mortality risk associated with antipsychotic use in Parkinson disease (PD). We do not deny that the collective evidence has strongly suggested that neuroleptics are associated with increased mortality in elderly populations and ...

Henry J. Kaminski, MD

With the initial identification in 1976 of antibodies directed toward the acetylcholine receptor (AChR) in the serum of patients with myasthenia gravis (MG),1 it became clear that upwards of 20% of patients with clinical and electrophysiological evidence of a neuromuscular disorder lacked such antibodies. Was this because ...

The emergence of oral-administered small molecules in multiple sclerosis (MS) therapeutics affords patients potential benefits of improved adherence, convenience, and increased effectiveness within a therapeutic area, which has otherwise benefited predominantly from injectable disease-modifying medicines for several decades. Switching from injectable to oral MS treatment may also improve ...

Original Investigation 
Ludwig Kappos, MD; David K. B. Li, MD; Olaf Stüve, MD; Hans-Peter Hartung, MD; Mark S. Freedman, MD; Bernhard Hemmer, MD; Peter Rieckmann, MD; Xavier Montalban, MD; Tjalf Ziemssen, MD; Brian Hunter, PhD; Sophie Arnould, PhD; Erik Wallström, MD; Krzysztof Selmaj, MD
Includes: Supplemental Content

Importance  This dose-blinded extension of the phase 2 BOLD (BAF312 on MRI Lesion Given Once Daily) Study in relapsing-remitting multiple sclerosis provides evidence on disease activity and safety of a range of siponimod doses for up to 24 months.

Objective  To assess the safety and efficacy ...

Editorial: Conclusions From the BOLD Phase 2 Extension Study of Siponimod; Edward R. Hammond, MD, PhD, MPH
Original Investigation 
Elena Cortés-Vicente, MD; Eduard Gallardo, PhD; María Ángeles Martínez, BSc; Jordi Díaz-Manera, PhD; Luis Querol, PhD; Ricard Rojas-García, PhD; Isabel Illa, MD, PhD

Importance  Double-seronegative myasthenia gravis (dSNMG) includes patients with myasthenia gravis (MG) without detectable antibodies to the nicotinic acetylcholine receptor (AChR) or to muscle-specific tyrosine kinase (MuSK). The lack of a biomarker hinders the diagnosis and clinical management in these patients. Cortactin, a protein acting downstream from agrin/low-density ...

Editorial: Seronegative Myasthenia Gravis; Henry J. Kaminski, MD
Clinical Pathologic Conference 
Karen M. Doherty, MD; Joanne Shields, FRCP; Raeburn Forbes, FRCP; Moyra Gray, FRCPath; Seamus Kearney, MRCP; Alexander P. Maxwell, FRCP; John McKinley, MRCP

A woman aged 22 years presented with a 3-year history of jerks when brushing her teeth and a tremor when carrying drinks. Examination revealed a bilateral jerky tremor, stimulus-sensitive myoclonus, and difficulty with tandem gait. Thyroid and liver function test results were normal, but she had rapidly progressive ...

Comment & Response 
Marino Muxfeldt Bianchin, MD, PhD; Rosane Brondani, MD, PhD; Andrea Garcia de Almeida, MD, PhD

To the Editor Touma et al1 reported a comprehensive systematic review and meta-analysis of 5 randomized clinical trials evaluating the benefits and risks of stent retrievers in addition to recombinant tissue plasminogen activator (rtPA) for the treatment of acute ischemic stroke (AIS). The main conclusion of the ...

Comment & Response 
Lahoud Touma; Kristian B. Filion, PhD; Mark J. Eisenberg, MD, MPH

In Reply We thank Bianchin and colleagues for their interest in our systematic review and meta-analysis.1 The objective of our study was to synthesize the available evidence to determine the overall risks and benefits of stent retrievers in the treatment of acute ischemic stroke (AIS). To do ...

Jennifer S. Graves, MD, PhD, MAS

Establishing that there are gestation-related risk factors for multiple sclerosis (MS) significantly impacts our understanding of the timing of environmental risk in MS and ultimately would have a critical influence on prevention strategies. One such factor—month or season of birth—has been reported13 to be associated ...

Sheng-Han Kuo, MD; Catarina M. Quinzii, MD

Multiple system atrophy (MSA) is a progressive disorder, characterized by cerebellar ataxia, parkinsonism, and autonomic dysfunction. Brains of patients with MSA show extensive glial cytoplasmic inclusions that contain α-synuclein in the oligodendrocytes as well as extensive neurodegeneration in the cerebellum and basal ganglia. The pathophysiologic mechanism of MSA ...

Original Investigation 
Andreas Charidimou, MD, PhD; Sergi Martinez-Ramirez, MD; Yael D. Reijmer, PhD; Jamary Oliveira-Filho, MD; Arne Lauer, MD; Duangnapa Roongpiboonsopit, MD; Matthew Frosch, MD, PhD; Anastasia Vashkevich, BA; Alison Ayres, BA; Jonathan Rosand, MD, MSc; Mahmut Edip Gurol, MD; Steven M. Greenberg, MD, PhD; Anand Viswanathan, MD, PhD

Importance  Cerebral amyloid angiopathy (CAA) is characteristically associated with magnetic resonance imaging (MRI) biomarkers of small vessel brain injury, including strictly lobar cerebral microbleeds, cortical superficial siderosis, centrum semiovale perivascular spaces, and white matter hyperintensities. Although these neuroimaging markers reflect distinct pathophysiologic aspects in CAA, no studies ...

Original Investigation 
Jun Mitsui, MD, PhD; Takashi Matsukawa, MD, PhD; Tsutomu Yasuda, MD; Hiroyuki Ishiura, MD, PhD; Shoji Tsuji, MD, PhD

Importance  Multiple system atrophy (MSA) is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. It has recently been reported that functionally impaired variants of COQ2, which encodes an essential enzyme in the biosynthetic pathway ...

Editorial: Coenzyme Q10 as a Peripheral Biomarker for Multiple System Atrophy; Sheng-Han Kuo, MD; Catarina M. Quinzii, MD
Original Investigation 
Pedro María Rodríguez Cruz, MD, MSc; Lucy Matthews, MRCP, DPhil; Mike Boggild, FRACP; Ana Cavey, CNS; Cris S. Constantinescu, FRCP, PhD; Nikos Evangelou, FRCP, DPhil; Gavin Giovannoni, FRCP, PhD; Orla Gray, MRCP; Stanley Hawkins, FRCP; Richard Nicholas, FRCP, PhD; Maylin Oppenheimer, BMBCh; Neil Robertson, FRCP, DM; John Zajicek, FRCP, PhD; Peter M. Rothwell, FRCP, FMedSci; Jacqueline Palace, FRCP, DM
Includes: Supplemental Content

Importance  The reports of seasonal variation in the births of people who later develop multiple sclerosis (MS) have been challenged and attributed to the background pattern in the general population, resulting in a false association.

Objective  To study the seasonality of MS births after adjusting for ...

Editorial: Is Season of Birth Important for Multiple Sclerosis Risk?; Jennifer S. Graves, MD, PhD, MAS
Clinical Implications of Basic Neuroscience Research 
Jing-Qiong Kang, MD, PhD; Robert L. Macdonald, MD, PhD

Objective  In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory γ-aminobutyric acid (GABAA) receptor γ2 subunit gene, GABRG2 (OMIM 137164), an established epilepsy gene.

Observations  The γ-aminobutyric acid (GABAA) ...

Michel Toledano, MD; Nicholas W. S. Davies, PhD, FRCP

This case report describes a woman with enteroviral postencephalitic parkinsonism with impaired presynaptic dopaminergic function.

Comment & Response 
Yun Luo, MD; Peng-Peng Niu, MD; Yi Yang, MD, PhD

To the Editor In JAMA Neurology, Rudilosso and colleagues1 presented 2 cases using computed tomography perfusion (CTP) and diffusion-weighted imaging (DWI). They suggested that CTP was superior to DWI in the identification of ischemic changes in acute stroke. In most patients, DWI findings appear positive within ...

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