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 Showing 21-37 of 37 Articles
Case Report/Case Series 
Paola Caroppo, MD, PhD; Catherine Belin, MD, MA; David Grabli, MD, PhD; Didier Maillet, PhD; Anne De Septenville, PhD; Raffaella Migliaccio, MD, PhD; Fabienne Clot, PhD; Foudil Lamari, MD; Agnès Camuzat, BSc; Alexis Brice, MD; Bruno Dubois, MD, PhD; Isabelle Le Ber, MD, PhD

Importance  Posterior cortical atrophy (PCA) is characterized by progressive visuoperceptual and visuospatial deficits and commonly considered to be an atypical variant of Alzheimer disease. Mutations of the GRN gene are responsible for a large phenotypic spectrum, but, to our knowledge, the association of PCA with GRN mutations ...

Jaime Imitola, MD; Michael K. Racke, MD
At present, 10 disease-modifying therapies (DMTs) have been approved for the treatment of multiple sclerosis (MS). These therapies reduce brain lesions and relapses by targeting immune-mediated mechanisms; in some cases, they may have additional neuroprotective effects. The individual response to treatment and the adverse effect profile of these DMTs vary ...
Original Investigation 
Li-San Wang, PhD; Adam C. Naj, PhD; Robert R. Graham, PhD; Paul K. Crane, MD, MPH; Brian W. Kunkle, PhD, MPH; Carlos Cruchaga, PhD; Josue D. Gonzalez Murcia, BS; Lisa Cannon-Albright, PhD; Clinton T. Baldwin, PhD; Henrik Zetterberg, MD, PhD; Kaj Blennow, MD; Walter A. Kukull, PhD; Kelley M. Faber, MS; Nicole Schupf, PhD, DrPH; Maria C. Norton, PhD; JoAnn T. Tschanz, PhD; Ronald G. Munger, MPH, PhD; Christopher D. Corcoran, PhD; Ekaterina Rogaeva, PhD; Chiao-Feng Lin, PhD; Beth A. Dombroski, PhD; Laura B. Cantwell, MPH; Amanda Partch, MS; Otto Valladares, MS; Hakon Hakonarson, MD, PhD; Peter St George-Hyslop, MD, FRCP; Robert C. Green, MD, MPH; Alison M. Goate, DPhil; Tatiana M. Foroud, PhD; Regina M. Carney, MD; Eric B. Larson, MD, MPH; Timothy W. Behrens, MD; John S. K. Kauwe, PhD; Jonathan L. Haines, PhD; Lindsay A. Farrer, PhD; Margaret A. Pericak-Vance, PhD; Richard Mayeux, MD; Gerard D. Schellenberg, PhD; for the National Institute on Aging–Late-Onset Alzheimer’s Disease (NIA-LOAD) Family Study; Alzheimer’s Disease Genetics Consortium
Includes: Supplemental Content

Importance  Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of ...

Original Investigation 
Dalia L. Rotstein, MD; Brian C. Healy, PhD; Muhammad T. Malik, MD; Tanuja Chitnis, MD; Howard L. Weiner, MD

Importance  With multiple and increasingly effective therapies for relapsing forms of multiple sclerosis (MS), disease-free status or no evidence of disease activity (NEDA) has become a treatment goal and a new outcome measure. However, the persistence of NEDA over time and its predictive power for long-term prognosis ...

Clinical Implications of Basic Neuroscience Research 
Moa Stenudd; Hanna Sabelström, PhD; Jonas Frisén, MD, PhD

Spinal cord injury is followed by glial scar formation, which has positive and negative effects on recovery from the lesion. More than half of the astrocytes in the glial scar are generated by ependymal cells, the neural stem cells in the spinal cord. We recently demonstrated that the ...

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) ...

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 ...

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. ...

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