0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
In This Issue of JAMA Neurology |

Highlights FREE

JAMA Neurol. 2014;71(10):1203. doi:10.1001/jamaneurol.2013.4171.
Text Size: A A A
Published online

RESEARCH

Mak and colleagues discover the molecular basis of a rare form of severe dysbetalipoproteinemia and determine the effects of complete absence of apoE on neurocognitive and visual function and on lipoprotein metabolism. Whole-exome sequencing was performed on the patient’s DNA. Despite complete absence of apoE, the patient had normal vision, exhibited normal cognitive, neurological, and retinal function, had normal findings on brain magnetic resonance imaging, and had normal cerebrospinal fluid levels of β-amyloid and tau proteins. Despite a profound effect on lipoprotein metabolism, detailed neurocognitive and retinal studies failed to demonstrate any defects, as highlighted in an editorial by Lane-Donovan and Herz.

Fogel and coauthors investigate the contribution of genetic disease in a population of patients with predominantly adult- and sporadic-onset cerebellar ataxia. Next-generation exome sequencing coupled with comprehensive bioinformatic analysis, phenotypic analysis, and clinical correlation were conducted. They identified clinically relevant genetic information in more than 60% of patients studied (n = 46), including diagnostic pathogenic gene variants in 21% (n = 16), a notable yield given the diverse genetics and clinical heterogeneity of the cerebellar ataxias. This study demonstrated that clinical exome sequencing in patients with adult-onset and sporadic presentations of ataxia is a high-yield test, providing a definitive diagnosis in more than one-fifth of patients and suggesting a potential diagnosis in more than one-third to guide additional phenotyping and diagnostic evaluation, as emphasized in an editorial by Gomez and Das.

Pascual and colleagues identify the most helpful outcomes for treatment evaluation and uphold (rather than diminish) blood glucose concentration and stimulate the tricarboxylic acid cycle, including anaplerosis, in glucose transporter type I deficiency using the medium-chain, food-grade triglyceride triheptanoin. Supplementation of the regular diet with food-grade triheptanoin was studied. They found that 1 participant (7%) did not manifest spike-waves; however, spike-waves promptly decreased by 70% (P = .001) in the other participants after consumption of triheptanoin.

Holland and coauthors assess structural growth trajectories and rates of change in the whole brain and regions of interest in infants during the first 3 months after birth. They segmented whole-brain and multiple subcortical regions of interest using a novel application of Bayesian-based methods, and they modeled growth and rate of growth trajectories nonparametrically and assessed left-right asymmetries and sexual dimorphisms. They report that normative trajectories for early postnatal brain structural development can be determined from magnetic resonance imaging and could be used to improve the detection of deviant maturational patterns indicative of neurodevelopmental disorders.

Tables

References

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.

Multimedia

Some tools below are only available to our subscribers or users with an online account.

1,233 Views
0 Citations
×

Related Content

Customize your page view by dragging & repositioning the boxes below.

Jobs