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 Showing 1-20 of 34 Articles
Original Investigation 
Nicolaas I. Bohnen, MD, PhD; Roger L. Albin, MD; Martijn L. T. M. Müller, PhD; Myria Petrou, MA, MB, ChB, MS; Vikas Kotagal, MD, MSc; Robert A. Koeppe, PhD; Peter J. H. Scott, PhD; Kirk A. Frey, MD, PhD

Importance  Little is known about the relative contributions of multisystem degenerative processes across the spectrum of predemented cognitive decline in Parkinson disease (PD).

Objective  To investigate the relative frequency of caudate nucleus dopaminergic and forebrain cholinergic deficits across a spectrum of cognitively impaired patients with PD ...

Original Investigation 
Michelle Beavan, MRCP(UK); Alisdair McNeill, PhD, MRCP(UK); Christos Proukakis, PhD, FRCP; Derralynn A. Hughes, DPhil, FRCP(UK); Atul Mehta, FRCP; Anthony H. V. Schapira, MD, DSc, FRCP, FMedSci
Includes: Supplemental Content

Importance  Numerically, the most important genetic risk factor for the development of Parkinson disease (PD) is the presence of a glucocerebrosidase gene (GBA) mutation.

Objective  To evaluate longitudinally and clinically a GBA mutation–positive cohort and the evolution of the prodromal features of PD.

Design, ...

Original Investigation 
Eugenia Martinez-Hernandez, MD, PhD; Maria Sepulveda, MD; Kevin Rostásy, MD; Romana Höftberger, MD; Francesc Graus, MD, PhD; Robert J. Harvey, BSc, PhD; Albert Saiz, MD, PhD; Josep Dalmau, MD, PhD

Importance  In patients with isolated optic neuritis (ON), the presence of antibodies to aquaporin 4 (AQP4) has diagnostic and prognostic value. In the same clinical setting, the significance of antibodies to myelin-oligodendrocyte glycoprotein (MOG) or the glycine receptor α1 subunit (GlyR) is unclear.

Objectives  To investigate ...

Case Report/Case Series 
Heather Trang, MSc; Sabrina Y. Stanley, BSc; Paul Thorner, MD, PhD; Hannaneh Faghfoury, MD; Andreas Schulze, MD, PhD; Cynthia Hawkins, MD, PhD; Christopher E. Pearson, PhD; Grace Yoon, MD

Importance  We report the first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as large as (CAG)92-250.

Observations  A 38-year-old woman with classic SCA7 (and a son, who died at age 3 years) ...

Viewpoint 
Avindra Nath, MD
This Viewpoint
One of the most basic assumptions of human neuroscience research is that brain alterations form the basis for cognitive differences across people and time. Although foundational work describing the links between cerebral damage and behavioral abnormalities allowed for the emergence of modern neurology, cognitive neuroscience, and neuropsychology, the bulk of ...
Original Investigation 
Mohit Gupta, MD; Kevin S. King, MD; Rajiv Srinivasa, MD; Myron F. Weiner, MD; Keith Hulsey, PhD; Colby R. Ayers, MS; Anthony Whittemore, MD, PhD; Roderick W. McColl, PhD; Heidi C. Rossetti, PhD; Ronald M. Peshock, MD
Includes: Supplemental Content

Importance  Understanding the relationships between age-related changes in brain structure and cognitive function has been limited by inconsistent methods for assessing brain imaging, small sample sizes, and racially/ethnically homogeneous cohorts with biased selection based on risk factors. These limitations have prevented the generalizability of results from brain ...

Special Communication 
Suja Rajan, PhD; Sarah Baraniuk, PhD; Stephanie Parker, RN, BSN; Tzu-Ching Wu, MD; Ritvij Bowry, MD; James C. Grotta, MD

Importance  There are many ways a mobile stroke unit (MSU) might prove valuable for patients with ischemic and hemorrhagic stroke, such as earlier recognition, more accurate triage, improved management of blood pressure and other critical physiological variables, and eventually earlier implementation of effective therapies. The MSU may ...

Viewpoint 
Joseph B. Martin, MD, PhD; Hamilton Moses III, MD
This Viewpoint report that neurology has an opportunity to influence the integrated health care system as it adapts to an aging populace, as it develops a growing awareness of the burden of neurological disease, and as it assumes financial responsibility for large groups of patients.
Original Investigation 
Frank Leypoldt, MD; Romana Höftberger, MD, PhD; Maarten J. Titulaer, MD, PhD; Thaís Armangue, MD; Nuria Gresa-Arribas, PhD; Holger Jahn, MD, PhD; Kevin Rostásy, MD, PhD; Wolfgang Schlumberger, PhD; Thomas Meyer, PhD; Klaus-Peter Wandinger, MD, PhD; Myrna R. Rosenfeld, MD, PHD; Francesc Graus, MD, PhD; Josep Dalmau, MD, PhD
Includes: Supplemental Content

Importance  Anti–N-methyl-D-aspartate receptor (NMDAR) encephalitis is a severe but treatable autoimmune encephalitis affecting mainly young adults and children. The lack of suitable biomarkers of disease activity makes treatment decisions and identification of relapses challenging.

Objective  To determine the levels of the B-cell–attracting ...

Original Investigation 
Keita Takahashi, MD; Yuji Kurihara, PhD; Yume Suzuki, MD, PhD; Yoshio Goshima, MD, PhD; Fumiaki Tanaka, MD, PhD; Kohtaro Takei, PhD
Includes: Supplemental Content

Importance  Although multiple sclerosis (MS) is generally considered an autoimmune demyelinating disorder of the central nervous system, axonal degeneration through Nogo receptor-1 signaling was recently recognized as an important pathological feature. Our previous identification of lateral olfactory tract usher substance (LOTUS), an endogenous Nogo receptor-1 antagonist, prompted ...

Case Report/Case Series 
Ahmet K. Kilic, MD; Asli T. Kurne, MD; Isil Saatci, MD; Ersin Tan, MD

Importance  Dural arteriovenous fistula is a very rare cause of myelitis that can only be treated interventionally or surgically.

Observations  A man in his 30s with paraparesis and urinary incontinence had a long-segment thoracic lesion on spinal magnetic resonance imaging. Transverse myelitis was the initial diagnosis. ...

The Oxford English Dictionary defines opportunistic as “exploiting chances offered by immediate circumstances.”1 The term was applied to pathogens, notably fungi, first in the early 1950s, and it came into increasingly widespread use after an International Symposium on Fungal Infections led by Utz in 19622 and a meeting of the ...
Original Investigation 
Kara M. Smith, MD; Eli Eyal, MSc; Daniel Weintraub, MD; for the ADAGIO Investigators
Includes: Supplemental Content

Importance  Depression, cognitive impairment, and other nonmotor symptoms (NMSs) are common early in Parkinson disease (PD) and may be in part due to disease-related dopamine deficiency. Many patients with PD are treated with antidepressants for NMSs, and the effect of the combination of PD medications that enhance ...

Original Investigation 
Ann M. Arvin, MD; Jerry S. Wolinsky, MD; Ludwig Kappos, MD, PhD; Michele I. Morris, MD; Anthony T. Reder, MD; Carlo Tornatore, MD, PhD; Anne Gershon, MD; Michael Gershon, MD; Myron J. Levin, MD; Mauritz Bezuidenhoudt, MSc; Norman Putzki, MD
Includes: Supplemental Content

Importance  Varicella-zoster virus (VZV) infections increasingly are reported in patients with multiple sclerosis (MS) and constitute an area of significant concern, especially with the advent of more disease-modifying treatments in MS that affect T-cell–mediated immunity.

Objective  To assess the incidence, risk factors, and clinical characteristics of ...

Case Report/Case Series 
Gráinne S. Gorman, MRCP; Gerald Pfeffer, MD; Helen Griffin, PhD; Emma L. Blakely, PhD; Marzena Kurzawa-Akanbi, PhD; Jessica Gabriel, BSc; Kamil Sitarz, PhD; Mark Roberts, MD, FRCP; Benedikt Schoser, MD; Angela Pyle, PhD; Andrew M. Schaefer, MRCP; Robert McFarland, PhD, MRCP; Douglass M. Turnbull, PhD, FRCP; Rita Horvath, MD; Patrick F. Chinnery, PhD, FRCP; Robert W. Taylor, PhD, FRCPath
Includes: Supplemental Content

Importance  Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined.

Observations  Whole-exome sequencing identified a novel, heterozygous p.(Gly671Trp) mutation in the AFG3L2...

Editorial 
Steven Warach, MD, PhD
Soon after thrombolytic therapy was established as a therapy for ischemic stroke, our colleague Anthony Furlan, MD, famously circulated a cartoon of a computed tomographic (CT) scanner visible through the back doors of an ambulance, where a happy stroke physician had hung a bottle dripping tissue plasminogen activator (tPA) into ...
Original Investigation 
Ilir Agalliu, MD, ScD; Marta San Luciano, MD; Anat Mirelman, MD; Nir Giladi, MD; Bjorg Waro, MD; Jan Aasly, MD, PhD; Rivka Inzelberg, MD; Sharon Hassin-Baer, MD; Eitan Friedman, MD; Javier Ruiz-Martinez, MD; Jose Felix Marti-Masso, MD; Avi Orr-Urtreger, MD; Susan Bressman, MD; Rachel Saunders-Pullman, MD
Includes: Supplemental Content

Importance  Patients with Parkinson disease (PD) who harbor LRRK2 G2019S mutations may have increased risks of nonskin cancers. However, the results have been inconsistent across studies.

Objectives  To analyze pooled data from 5 centers to further examine the association between LRRK2 G2019S mutation and cancer among ...

Original Investigation 
Martin Ebinger, MD; Alexander Kunz, MD; Matthias Wendt, MD; Michal Rozanski, MD; Benjamin Winter, MD; Carolin Waldschmidt, MD; Joachim Weber, MD; Kersten Villringer, MD; Jochen B. Fiebach, MD; Heinrich J. Audebert, MD

Importance  The effectiveness of intravenous thrombolysis in acute ischemic stroke is time dependent. The effects are likely to be highest if the time from symptom onset to treatment is within 60 minutes, termed the golden hour.

Objective  To determine the achievable rate of golden hour ...

Case Report/Case Series 
Lorraine V. Kalia, MD, PhD; Anthony E. Lang, MD; Lili-Naz Hazrati, MD, PhD; Shinsuke Fujioka, MD; Zbigniew K. Wszolek, MD; Dennis W. Dickson, MD; Owen A. Ross, PhD; Vivianna M. Van Deerlin, MD, PhD; John Q. Trojanowski, MD, PhD; Howard I. Hurtig, MD; Roy N. Alcalay, MD; Karen S. Marder, MD, MPH; Lorraine N. Clark, PhD; Carles Gaig, MD; Eduardo Tolosa, MD, PhD; Javier Ruiz-Martínez, MD, PhD; Jose F. Marti-Masso, MD, PhD; Isidre Ferrer, MD, PhD; Adolfo López de Munain, MD, PhD; Samuel M. Goldman, MD, MPH; Birgitt Schüle, MD; J. William Langston, MD; Jan O. Aasly, MD; Maria T. Giordana, MD, PhD; Vincenzo Bonifati, MD, PhD; Andreas Puschmann, MD, PhD; Margherita Canesi, MD; Gianni Pezzoli, MD; Andre Maues De Paula, MD; Kazuko Hasegawa, MD; Charles Duyckaerts, MD, PhD; Alexis Brice, MD, PhD; A. Jon Stoessl, MD; Connie Marras, MD, PhD
Includes: Supplemental Content

Importance  Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with ...

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