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 Showing 41-48 of 48 Articles
Original Contribution  FREE
Rita João Guerreiro, PhD; Ebba Lohmann, MD; José Miguel Brás, PhD; Jesse Raphael Gibbs, MS; Jonathan D. Rohrer, MRCP; Nicole Gurunlian, MS; Burcu Dursun, MD; Basar Bilgic, MD; Hasmet Hanagasi, MD; Hakan Gurvit, MD; Murat Emre, MD; Andrew Singleton, PhD; John Hardy, PhD
Includes: Supplemental Content

Objective To identify new genes and risk factors associated with frontotemporal dementia (FTD). Several genes and loci have been associated with different forms of FTD, but a large number of families with dementia do not harbor mutations in these genes.

Design Whole-exome sequencing and whole-genome genotyping were performed ...

Original Contribution  FREE
Janey Prodoehl, PhD; Peggy J. Planetta, PhD; Ajay S. Kurani, MS; Cynthia L. Comella, MD; Daniel M. Corcos, PhD; David E. Vaillancourt, PhD

Objective To compare differences in functional brain activity between tremor- and nontremor-dominant subtypes of Parkinson disease (PD) using functional magnetic resonance imaging.

Design In our study, patients with tremor-dominant PD and those with nontremor-dominant PD performed a grip task, and the results obtained were compared using voxelwise analysis. ...

The treatment of relapsing multiple sclerosis (MS) remains a rare beacon of success in the long campaign against neurological disease. The ready availability of a phase II clinical outcome (eg, gadolinium-enhancing lesion) that tracks a relevant phase III clinical outcome (eg, annualized relapse rate) is one of the major reasons ...
Neurological Review  FREE
Hao Deng, MD, PhD; Hui Liang, MD; Joseph Jankovic, MD

Parkinson disease is one of the most common neurodegenerative diseases associated with aging. At least 18 genetic loci and 13 disease-related genes for parkinsonism have been identified. Among them, PARK15 -associated parkinsonism, also referred to as parkinsonian-pyramidal disease (PPD), was found to be caused by mutations in the ...

Original Contribution  FREE
Shiv Saidha, MBBCh, MRCPI; Elias S. Sotirchos, MD; Jiwon Oh, MD, FRCPC; Stephanie B. Syc, ScB; Michaela A. Seigo, ScB; Navid Shiee, MS; Chistopher Eckstein, MD; Mary K. Durbin, PhD; Jonathan D. Oakley, PhD; Scott A. Meyer, PhD; Teresa C. Frohman, BS; Scott Newsome, DO; John N. Ratchford, MD; Laura J. Balcer, MD, MSCE; Dzung L. Pham, PhD; Ciprian M. Crainiceanu, PhD; Elliot M. Frohman, MD, PhD; Daniel S. Reich, MD, PhD; Peter A. Calabresi, MD
Includes: Supplemental Content

Objective To determine the relationships between conventional and segmentation-derived optical coherence tomography (OCT) retinal layer thickness measures with intracranial volume (a surrogate of head size) and brain substructure volumes in multiple sclerosis (MS).

Design Cross-sectional study.

Setting Johns Hopkins University, Baltimore, Maryland.

Participants A total of 84 patients ...

Observation  FREE
Viviane Chalhoub, MD; Lise Abi-Rafeh, MD; Kamal Hachem, MD; Eliane Ayoub, MD; Patricia Yazbeck, MD

Objective To highlight the possible association of intracranial aneurysm with autosomal recessive polycystic kidney disease.

Design, Setting, and Patient To our knowledge, this association has been reported only twice in the medical literature. We herein report the case of a 21-year-old man with autosomal recessive polycystic kidney disease, ...

Original Contribution  FREE
Ross W. Paterson, MRCP; Charles C. Torres-Chae, MPA; Amy L. Kuo, MS, RN, GNP; Tim Ando, BA; Elizabeth A. Nguyen, BS; Katherine Wong, BS; Stephen J. DeArmond, MD, PhD; Aissa Haman, MD; Paul Garcia, MD; David Y. Johnson; Bruce L. Miller, MD; Michael D. Geschwind, MD, PhD

Objectives To identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease (sCJD) during the course of their disease and determine which medical specialties saw patients with sCJD prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made.

Design...

Original Contribution  FREE
Yafei Huang, PhD; Rachel Potter, BA; Wendy Sigurdson, MSN; Tom Kasten, PhD; Rose Connors, BA; John C. Morris, MD; Tammie Benzinger, MD; Mark Mintun, MD; Tim Ashwood, PhD; Mats Ferm, PhD; Samantha L. Budd, PhD; Randall J. Bateman, MD
Includes: Supplemental Content

Objectives To investigate dynamic changes in human plasma β-amyloid (Aβ) concentrations, evaluate the effects of aging and amyloidosis on these dynamics, and determine their correlation with cerebrospinal fluid (CSF) Aβ concentrations.

Design A repeated plasma and CSF sampling study.

Setting The Washington University School of Medicine in St ...

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