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 Showing 1-20 of 41 Articles
Case Report/Case Series 
Jill S. Goldman, MS, MPhil; Catarina Quinzii, MD; Jane Dunning-Broadbent, PhD; Cheryl Waters, MD; Hiroshi Mitsumoto, MD; Thomas H. Brannagan III, MD, DSc; Stephanie Cosentino, PhD; Edward D. Huey, MD; Peter Nagy, MD, PhD; Sheng-Han Kuo, MD

Importance  Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72.

Observations  A 65-year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed ...

Original Investigation 
Melinda S. Burnett, MD; Robert J. Witte, MD; J. Eric Ahlskog, PhD, MD

Importance  Markedly enlarged Virchow-Robin spaces throughout the striatum appear occasionally on magnetic resonance imaging (MRI) scans of the elderly, and this type of striatum is known as the Swiss cheese striatum (SCS); however, its clinical impact is unknown.

Objective  To determine the clinical features associated with ...

Lucy X. Lu, PhD; Emanuel Della-Torre, MD; John H. Stone, MD, MPH; Stephen W. Clark, MD, PhD
Includes: Supplemental Content

Importance  IgG4-related hypertrophic pachymeningitis (IgG4-RHP) is an increasingly recognized manifestation of IgG4-related disease, a fibroinflammatory condition that can affect virtually any organ. It is estimated that IgG4-RHP may account for a high proportion of cases of hypertrophic pachymeningitis once considered idiopathic.

Objective  To summarize the current ...

Clinical Pathologic Conference 
Mahtab Ghadiri, MBBS, BMedSc; Michael E. Buckland, MBBS, PhD, FRCPA; Ian J. Sutton, PhD, FRACP; Suad Al Jahdhami, BSc, MD, FRCPA; Simon Flanagan, BSc, MSc; Robert Heard, MD, PhD, FRCP, FRACP; Yael Barnett, MBBS; Jeffrey Brennan, BSc, MBBS, FRACS; Michael H. Barnett, MBBS, PhD, FRACP

A 42-year-old white man presented with cognitive impairment and behavioral changes followed by rapidly progressive motor and gait impairment. Magnetic resonance imaging revealed striking multifocal white matter signal change, areas of restricted diffusion, diffuse callosal signal change, and atrophy and hyperintensity of the corticospinal tracts. A broad range ...

Original Investigation 
Sotirios A. Parashos, MD, PhD; Sheng Luo, MS; Kevin M. Biglan, MD, MPH; Ivan Bodis-Wollner, MD, DSc; Bo He, MS; Grace S. Liang, MD; G. Webster Ross, MD; Barbara C. Tilley, PhD; Lisa M. Shulman, MD; for the NET-PD Investigators
Includes: Supplemental Content

Importance  Optimizing assessments of rate of progression in Parkinson disease (PD) is important in designing clinical trials, especially of potential disease-modifying agents.

Objective  To examine the value of measures of impairment, disability, and quality of life in assessing progression in early PD.

Design, Setting, and Participants...

Viewpoint  FREE
Cornelia I. Bargmann, PhD; William T. Newsome, PhD
On April 2, 2013, President Obama announced the Brain Research Through Advancing Innovative Neurotechnologies (BRAIN) Initiative, a partnership between the National Institutes of Health (NIH), the National Science Foundation, the Defense Advanced Research Projects Agency, private foundations, and researchers.1 The charge of the BRAIN Initiative, as summarized by NIH Director ...
Kevin S. King, MD
Deciphering the risk factors associated with and possibly promoting the preclinical progression of chronic disease is difficult, particularly when the object of study is complex and shrouded from direct observation. The ability to assess β-amyloid (Aβ) deposition using positron emission tomography imaging before the onset of clinically evident Alzheimer disease ...
Original Investigation 
David P. Breen, MRCP; Romina Vuono, PhD; Upekshani Nawarathna, BSc; Kate Fisher, BSc; John M. Shneerson, MD; Akhilesh B. Reddy, PhD; Roger A. Barker, PhD
Includes: Supplemental Content

Importance  Sleep disturbances are recognized as a common nonmotor complaint in Parkinson disease but their etiology is poorly understood.

Objective  To define the sleep and circadian phenotype of patients with early-stage Parkinson disease.

Design, Setting, and Participants  Initial assessment of sleep characteristics in a large ...

Original Investigation 
Timothy M. Hughes, PhD, MPH; Lewis H. Kuller, MD, DrPH; Emma J. M. Barinas-Mitchell, PhD; Eric M. McDade, DO; William E. Klunk, MD, PhD; Ann D. Cohen, PhD; Chester A. Mathis, PhD; Steven T. DeKosky, MD; Julie C. Price, PhD; Oscar L. Lopez, MD
Includes: Supplemental Content

Importance  Recent studies show that cerebral β-amyloid (Aβ) deposition is associated with blood pressure and measures of arterial stiffness in nondemented individuals.

Objective  To examine the association between measures of arterial stiffness and change in Aβ deposition over time.

Design, Setting, and Participants  Deposition of ...

Original Investigation 
Mei-Sing Ong, PhD; Isaac S. Kohane, MD, PhD; Tianxi Cai, PhD; Mark P. Gorman, MD; Kenneth D. Mandl, MD, MPH
Includes: Supplemental Content

Importance  Epilepsy is a debilitating condition, often with neither a known etiology nor an effective treatment. Autoimmune mechanisms have been increasingly identified.

Objective  To conduct a population-level study investigating the relationship between epilepsy and several common autoimmune diseases.

Design, Setting, and Participants  A retrospective population-based ...

Anthony H. V. Schapira, DSc, MD, FRCP, FMedSci; Sandip Patel, PhD
It is now generally accepted that mitochondrial dysfunction plays a significant role in the etiology and pathogenesis of Parkinson disease (PD). Mitochondrial involvement in PD was first identified with specific defects of mitochondrial complex I of the respiratory chain in substantia nigra,1,2 and abnormalities of this protein in the brain ...
Original Investigation 
Elliot M. Frohman, MD, PhD; Maria Chiara Monaco, PhD; Gina Remington, RN; Caroline Ryschkewitsch, MT; Peter N. Jensen, BS; Kory Johnson, PhD; Molly Perkins, PhD; Julia Liebner, BS; Benjamin Greenberg, MD; Nancy Monson, PhD; Teresa C. Frohman, PA-C; Daniel Douek, MD, PhD; Eugene O. Major, PhD

Importance  Infection with JC virus (JCV) may lead to development of demyelinating progressive multifocal leukoencephalopathy in patients with multiple sclerosis (MS) who are treated with natalizumab.

Objective  To determine whether mononuclear cells in circulation from MS patients treated with natalizumab harbor JCV DNA.

Design, Setting, and ...

Original Investigation 
Laura Serra, PhD; Gabriella Silvestri, MD; Antonio Petrucci, MD; Barbara Basile, PhD; Marcella Masciullo, MD; Elena Makovac, PhD; Mario Torso, PsyD; Barbara Spanò, MD, PhD; Chiara Mastropasqua, MSc; Neil A. Harrison, MBBS, PhD; Maria L. E. Bianchi, MD; Manlio Giacanelli, MD; Carlo Caltagirone, MD; Mara Cercignani, PhD; Marco Bozzali, MD
Includes: Supplemental Content

Importance  Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy observed in adults, is a genetic multisystem disorder affecting several other organs besides skeletal muscle, including the brain. Cognitive and personality abnormalities have been reported; however, no studies have investigated brain functional networks and their relationship ...

Original Investigation 
The Parkinson Study Group QE3 Investigators
Includes: Supplemental Content

Importance  Coenzyme Q10 (CoQ10), an antioxidant that supports mitochondrial function, has been shown in preclinical Parkinson disease (PD) models to reduce the loss of dopamine neurons, and was safe and well tolerated in early-phase human studies. A previous phase II study suggested possible clinical benefit.

Objective  ...

Case Report/Case Series 
Allen DeSena, MD, MPH; Donna Graves, MD; Michael C. Morriss, MD; Benjamin M. Greenberg, MD, MHS

Importance  Classically, transverse myelitis and acute disseminated encephalomyelitis are considered central nervous system demyelinating conditions. In both conditions, the spinal cord is involved to varying degrees, and there is a variety of presentations, usually involving some degree of progressive paralysis of the upper and/or lower extremities. Treatment ...

Case Report/Case Series 
Anand Iyer, MD, MRCPCH; Devipriya Rathnasabapathi, MD; Liene Elsone, MD; Kerry Mutch, MSC; Monica Terlizzo, MD; David Footitt, FRCP; Anu Jacob, FRCP

Importance  Neuromyelitis optica is associated with severe neurodisability if not recognized and treated promptly. Several autoimmune disorders are associated with this condition and may vary in their presentation. It is essential that clinicians are aware of the uncommon presenting features of neuromyelitis optica and associated autoimmune conditions....

Original Investigation 
Balwinder Singh, MD, MS; Michelle M. Mielke, PhD; Ajay K. Parsaik, MD, MS; Ruth H. Cha, MS; Rosebud O. Roberts, MB ChB, MS; Paul D. Scanlon, MD; Yonas E. Geda, MD, MSc; Teresa J. Christianson, BSc; V. Shane Pankratz, PhD; Ronald C. Petersen, MD, PhD
Includes: Supplemental Content

Importance  Previous studies suggest cross-sectional associations between a diagnosis of chronic obstructive pulmonary disease (COPD) and mild cognitive impairment (MCI). However, few studies have assessed whether COPD, a potentially modifiable factor, is associated with an increased risk for MCI and whether the relation is specific to the ...

Original Investigation 
Traian Popa, MD, PhD; Paolo Milani, MD; Aliénor Richard, MSc; Cécile Hubsch, MD; Vanessa Brochard, PhD; Christine Tranchant, MD, PhD; Anna Sadnicka, MRCP; John Rothwell, PhD; Marie Vidailhet, MD; Sabine Meunier, MD, PhD; Emmanuel Roze, MD, PhD

Importance  Myoclonus-dystonia (M-D) is a clinical syndrome characterized by a combination of myoclonic jerks and mild to moderate dystonia. The syndrome is related to ε-sarcoglycan (SGCE) gene mutations in about half the typical cases. Whether the M-D phenotype reflects a primary dysfunction of the cerebellothalamocortical ...

Joshua Gatson, PhD; Ramon Diaz-Arrastia, MD, PhD
The search for blood biomarkers useful in the management of traumatic brain injury (TBI) has been one of the holy grails of the clinical neurosciences for several decades. Biomarkers are molecules that can be measured in accessible biological fluids that reflect physiological, pharmacological, or disease processes and can suggest the ...
Original Investigation 
Pashtun Shahim, MD; Yelverton Tegner, MD, PhD; David H. Wilson, PhD; Jeffrey Randall, PhD; Tobias Skillbäck, MD; David Pazooki, MD, PhD; Birgitta Kallberg, BSc; Kaj Blennow, MD, PhD; Henrik Zetterberg, MD, PhD
Includes: Supplemental Content

Importance  Lack of objective biomarkers for brain damage hampers acute diagnosis and clinical decision making about return to play after sports-related concussion.

Objectives  To determine whether sports-related concussion is associated with elevated levels of blood biochemical markers of injury to the central nervous system and to ...

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