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June 2013, Vol 70, No. 6, Pages 678-806 | Genetics, Genomics, and Epigenetics

In This Issue of JAMA Neurology

In This Issue of JAMA Neurology

Abstract Full Text
free access
JAMA Neurol. 2013;70(6):679-680. doi:10.1001/jamaneurol.2013.83
Viewpoint

DNA Aβ42 Vaccination as Possible Alternative Immunotherapy for Alzheimer Disease

Abstract Full Text
JAMA Neurol. 2013;70(6):772-773. doi:10.1001/jamaneurol.2013.1502
Editorial

From the Genetic Code to Neuromics

Abstract Full Text
JAMA Neurol. 2013;70(6):684-685. doi:10.1001/jamaneurol.2013.2854

Glucocerebrosidase Mutations: Tipping Point Toward Parkinson Disease and Dementia?

Abstract Full Text
JAMA Neurol. 2013;70(6):686-688. doi:10.1001/jamaneurol.2013.87
Original Contribution

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

Abstract Full Text
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JAMA Neurol. 2013;70(6):727-735. doi:10.1001/jamaneurol.2013.1925

Nalls et al performed a multicenter collection of genotyping data to establish whether GBA1 mutations are a risk factor for dementia with Lewy bodies (DLB). See also the editorial by Klein and Krainc.

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

Abstract Full Text
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JAMA Neurol. 2013;70(6):736-741. doi:10.1001/2013.jamaneurol.537

Harms and colleagues investigated the frequency of C9orf72 repeat expansions in clinically diagnosed late-onset Alzheimer disease (AD) among families recruited for the National Institute on Aging Late-Onset Alzheimer Disease Family Study.

C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex

Abstract Full Text
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JAMA Neurol. 2013;70(6):742-745. doi:10.1001/jamaneurol.2013.1817

In a case-control series, Dombroski et al performed genotyping among Guam residents to determine whether the C9orf72 expanded repeat allele contributes to ALS-PDC in this population and to evaluate LRRK2 for mutations. Participants were screened for C9orf72 hexanucleotide repeat length. LRRK2 was screened for point mutations by DNA sequencing.

Hereditary Ataxia and Spastic Paraplegia in Portugal: A Population-Based Prevalence Study

Abstract Full Text
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JAMA Neurol. 2013;70(6):746-755. doi:10.1001/jamaneurol.2013.1707

Coutinho and coauthors present the prevalence and distribution of hereditary cerebellar ataxia and hereditary spastic paraplegia in Portugal.

Systemic Metabolic Abnormalities in Adult-onset Acid Maltase Deficiency: Beyond Muscle Glycogen Accumulation

Abstract Full Text
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JAMA Neurol. 2013;70(6):756-763. doi:10.1001/jamaneurol.2013.1507

The possibility of other unidentified, systemic metabolic derangements that could contribute to the pathogenesis of glycogen storage disease type II is investigated by Pascual and Roe.

New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32

Abstract Full Text
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JAMA Neurol. 2013;70(6):764-771. doi:10.1001/jamaneurol.2013.2311

In a family study, Serrano-Munuera and coauthors clinically and genetically characterize a Spanish kindred with pure spinocerebellar ataxia presenting with altered vertical eye movements.

Images in Neurology

Nocturnal Cramps: A Nerve Problem

Abstract Full Text
JAMA Neurol. 2013;70(6):792. doi:10.1001/jamaneurol.2013.1943

Corneomandibular Reflex (Wartenberg Reflex) in Coma: A Rarely Elicited Sign

Abstract Full Text
has multimedia
JAMA Neurol. 2013;70(6):794. doi:10.1001/jamaneurol.2013.1944

Dural Arteriovenous Fistula at the Craniocervical Junction Mimicking Acute Brainstem and Spinal Cord Infarction

Abstract Full Text
JAMA Neurol. 2013;70(6):796. doi:10.1001/jamaneurol.2013.1946

Large Arteriovenous Malformation in an Adolescent Presenting With First Seizure

Abstract Full Text
JAMA Neurol. 2013;70(6):798. doi:10.1001/jamaneurol.2013.1945

A Variant of the Anterior Opercular Syndrome With Supranuclear Gaze Palsy

Abstract Full Text
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JAMA Neurol. 2013;70(6):800. doi:10.1001/jamaneurol.2013.1947

A Complete C3-C4 Spinal Dislocation

Abstract Full Text
JAMA Neurol. 2013;70(6):802. doi:10.1001/jamaneurol.2013.1948
Observation

Progranulin Mutations as Risk Factors for Alzheimer Disease

Abstract Full Text
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JAMA Neurol. 2013;70(6):774-778. doi:10.1001/2013.jamaneurol.393

Perry and colleagues describe 2 unrelated patients with progranulin gene mutations and evidence of Alzheimer disease (AD) pathology.

Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

Abstract Full Text
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JAMA Neurol. 2013;70(6):779-782. doi:10.1001/jamaneurol.2013.629

van Egmond et al report a case of juvenile metachromatic leukodystrophy (MLD) with improvement of white matter changes on magnetic resonance imaging after hematopoietic stem cell transplant (HSCT).

A Novel OPA3 Mutation Revealed by Exome Sequencing: An Example of Reverse Phenotyping

Abstract Full Text
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JAMA Neurol. 2013;70(6):783-787. doi:10.1001/jamaneurol.2013.1174

Arif et al investigate the genetic cause of a phenotype including severe motor symptoms and bilateral optic atrophy in a consanguineous Pakistani family.

Clinical Application of Whole-Exome Sequencing: A Novel Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Sequence Variation in a Child With Ataxia

Abstract Full Text
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JAMA Neurol. 2013;70(6):788-791. doi:10.1001/jamaneurol.2013.247

Liew and coauthors report a single case of a novel sequence variation in the SACS gene to highlight whole-exome sequencing as a rapidly evolving clinical tool for diagnosis of mendelian disorders.

Book Reviews

Intraoperative Neurophysiologic Monitoring

Abstract Full Text
JAMA Neurol. 2013;70(6):803-804. doi:10.1001/jamaneurol.2013.2847

Comprehensive Board Review in Neurology, 2nd ed

Abstract Full Text
JAMA Neurol. 2013;70(6):803. doi:10.1001/jamaneurol.2013.479
Neurological Review

The Neurogenomics View of Neurological Diseases

Abstract Full Text
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JAMA Neurol. 2013;70(6):689-694. doi:10.1001/jamaneurol.2013.734

Tsuji reviews high-throughput genome sequencing technologies, the availability of which is expected to revolutionize our understanding of not only hereditary neurological diseases but also sporadic neurological diseases. It will be a new era of datacentric clinical practice.

Genetic Analysis in Neurology: The Next 10 Years

Abstract Full Text
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JAMA Neurol. 2013;70(6):696-702. doi:10.1001/jamaneurol.2013.2068

In recent years, neurogenetics research had made some remarkable advances owing to the advent of genotyping arrays and next-generation sequencing. Pittman and Hardy review how these technological advances have changed the approaches being used to study the genetic basis of neurological disease and how the research findings will be translated into clinical utility.

Understanding Neurological Disease Mechanisms in the Era of Epigenetics

Abstract Full Text
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JAMA Neurol. 2013;70(6):703-710. doi:10.1001/jamaneurol.2013.1443

Qureshi and Mehler highlight emerging paradigms for linking epigenetic machinery and processes with neurological disease states.

Epigenetic Determinants of Healthy and Diseased Brain Aging and Cognition

Abstract Full Text
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JAMA Neurol. 2013;70(6):711-718. doi:10.1001/jamaneurol.2013.1459

Akbarian and colleagues provide an overview of age-related changes in the brain’s chromatin structures, highlight potential epigenetic drug targets for cognitive decline and age-related neurodegenerative disease, and discuss opportunities and challenges when studying epigenetic biomarkers in aging research.

An Inflection Point in Gene Discovery Efforts for Neurodegenerative Diseases: From Syndromic Diagnoses Toward Endophenotypes and the Epigenome

Abstract Full Text
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JAMA Neurol. 2013;70(6):719-726. doi:10.1001/jamaneurol.2013.275

De Jager and Bennett review the current understanding of the genetic architecture of 4 common neurodegenerative diseases and use them to highlight successful strategies for gene discovery as well as emerging strategies being deployed to address the next series of challenges in investigating the pathophysiological basis of these diseases.

Correspondence

Acute Cervical Internal Carotid Artery Occlusion Stroke—Reply

Abstract Full Text
JAMA Neurol. 2013;70(6):805. doi:10.1001/jamaneurol.2013.198

Acute Cervical Internal Carotid Artery Occlusion Stroke

Abstract Full Text
JAMA Neurol. 2013;70(6):805. doi:10.1001/jamaneurol.2013.30

TREM2, Frontotemporal Dementia–Like Disease, Nasu-Hakola Disease, and Alzheimer Dementia: A Chicken and Egg Problem?

Abstract Full Text
JAMA Neurol. 2013;70(6):805-806. doi:10.1001/jamaneurol.2013.453
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