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.
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.
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.
Coutinho and coauthors present the prevalence and distribution of hereditary cerebellar ataxia and hereditary spastic paraplegia in Portugal.
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.
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.
Perry and colleagues describe 2 unrelated patients with progranulin gene mutations and evidence of Alzheimer disease (AD) pathology.
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).
Arif et al investigate the genetic cause of a phenotype including severe motor symptoms and bilateral optic atrophy in a consanguineous Pakistani family.
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.
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.
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.
Qureshi and Mehler highlight emerging paradigms for linking epigenetic machinery and processes with neurological disease states.
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.
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.
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