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. 2015;72(6):620. doi:10.1001/jamaneurol.2014.2851.
Text Size: A A A
Published online

RESEARCH

Rodríguez Cruz and colleagues determine the diagnostic usefulness of cell-based assays (CBAs) in the diagnosis of myasthenia gravis (MG) and compare the clinical features of patients with antibodies only to clustered acetylcholine receptors (AChRs) with those of patients with seronegative MG. Radioimmunoprecipitation assay (RIPA) and CBA were used to test for standard AChR antibodies and antibodies to clustered AChRs in 138 patients. Cell-based assay is a useful procedure in the routine diagnosis of RIPA-negative MG, particularly in children, and patients with antibodies only to clustered AChRs appear to be younger and have milder disease than other patients with MG. Editorial perspective in support of these data is provided by Steven Vernino, MD, PhD.

Ripolone and coauthors investigate mitochondrial dysfunction in a large series of muscle biopsy samples from patients with spinal muscular atrophy (SMA). They studied quadriceps muscle samples from 24 patients with genetically documented SMA and paraspinal muscle samples from 3 patients with SMA-II undergoing surgery for scoliosis correction. Their results strongly support the conclusion that an altered regulation of myogenesis and a downregulated mitochondrial biogenesis contribute to pathologic change in the muscle of patients with SMA.

Zukosky et al determine the genetic cause of a slowly progressive, autosomal dominant, scapuloperoneal neuromuscular disorder by using linkage and exome sequencing. Fourteen affected individuals in a 6-generation family with a progressive scapuloperoneal disorder were evaluated. This family defines a new scapuloperoneal phenotype associated with an ACTA1 mutation.

CLINICAL REVIEW & EDUCATION

Fox and Alterman review the evidence and effect sizes for treating different types of dystonia with different types of brain stimulation and discuss recent advances relevant to patient selection, surgical approach, programming, and mechanism of action. They report that strong (level B) evidence supports the use of deep brain stimulation (DBS) for the treatment of primary generalized or segmental dystonia, especially when due to mutation in the DYT1 gene, as well as for patients with cervical dystonia. Patients with dystonia that is not adequately controlled with standard medical therapy should be referred for consideration of DBS, especially patients with generalized, segmental, or cervical dystonia.

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.

1,603 Views
0 Citations
×

Related Content

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

Jobs