Papma, J. M., Jiskoot, L. C., Panman, J. L., Dopper, E. G., den Heijer, T., Donker Kaat, L., Pijnenburg, Y. A. L., Meeter, L. H., van Minkelen, R., Rombouts, S. A. R. B., van Swieten, J. C. September 3, 2017

Objective:

To investigate cognitive function, gray matter volume, and white matter integrity in the presymptomatic stage of chromosome 9 open reading frame 72 repeat expansion (C9orf72RE).

Methods:

Presymptomatic C9orf72RE carriers (n = 18) and first-degree family members without a pathogenic expansion (healthy controls [HC], n = 15) underwent a standardized protocol of neuropsychological tests, T1-weighted MRI, and diffusion tensor imaging within our cohort study of autosomal dominant frontotemporal dementia (FTD).… Read More...

Yu, T.-M., Chuang, Y.-W., Sun, K.-T., Yu, M.-C., Kung, S.-C., Lee, B. K., Huang, S.-T., Chen, C.-H., Lin, C.-L., Kao, C.-H. September 3, 2017

Objective:

Data on the risk of neurodegenerative diseases, including Alzheimer disease (AD) and Parkinson disease (PD), in patients with polycystic kidney disease (PKD) are lacking.

Methods:

A total of 4,229 patients who were aged ≥20 years and had received a diagnosis of PKD were included in the PKD cohort.… Read More...

Hilbert, J. E., Barohn, R. J., Clemens, P. R., Luebbe, E. A., Martens, W. B., McDermott, M. P., Parkhill, A. L., Tawil, R., Thornton, C. A., Moxley, R. T., On behalf of the National Registry Scientific Advisory Committee/Investigators September 3, 2017

Objective:

To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2).

Methods:

We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 years.… Read More...

Langer-Gould, A., Wu, J., Lucas, R., Smith, J., Gonzales, E., Amezcua, L., Haraszti, S., Chen, L. H., Quach, H., James, J. A., Barcellos, L. F., Xiang, A. H. September 3, 2017

Objective:

To determine whether Epstein-Barr virus (EBV) or cytomegalovirus (CMV) seropositivity is associated with multiple sclerosis (MS) in blacks and Hispanics and to what extent measures of the hygiene hypothesis or breastfeeding could explain these findings. EBV and CMV have been associated with MS risk in whites, and the timing and frequency of both viruses vary by factors implicated in the hygiene hypothesis.… Read More...

admin September 3, 2017

The authors retract the article “Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy” by X. Ayrignac et al., which appeared in the Resident & Fellow Section in volume 86, page e262, because 4 of the figures were previously published in another journal (European Neurology 2012;67:151–153).… Read More...

McDonnell, E., Schoenfeld, D., Paganoni, S., Atassi, N. September 3, 2017

Objective:

To estimate effects of gastric tube (G-tube) on survival and quality of life (QOL) in people with amyotrophic lateral sclerosis (ALS) correcting for confounding by indication inherent in nonrandomized observational data.

Methods:

To complement a recent causal inference analysis, which concluded that G-tube placement increases the hazard of death, permanent assisted ventilation, or tracheostomy by 28%, we fit causal inference models on a different sample of 481 patients with ALS enrolled in a recent clinical trial of ceftriaxone.… Read More...

Searles Nielsen, S., Warden, M. N., Camacho-Soto, A., Willis, A. W., Wright, B. A., Racette, B. A. September 3, 2017

Objective:

To use administrative medical claims data to identify patients with incident Parkinson disease (PD) prior to diagnosis.

Methods:

Using a population-based case-control study of incident PD in 2009 among Medicare beneficiaries aged 66–90 years (89,790 cases, 118,095 controls) and the elastic net algorithm, we developed a cross-validated model for predicting PD using only demographic data and 2004–2009 Medicare claims data.… Read More...

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