Michael A. Nalls, PhD; Raquel Duran, PhD; Grisel Lopez, MD; et al.
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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.
Matthew Harms, MD; Bruno A. Benitez, MD; Nigel Cairns, PhD; et al.
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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.
Beth A. Dombroski, PhD; Douglas R. Galasko, MD; Ignacio F. Mata, PhD; et al.
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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.
Paula Coutinho, MD, PhD; Luis Ruano, MD, MPH; José L. Loureiro, MD, PhD; et al.
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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.
Juan M. Pascual, MD, PhD; Charles R. Roe, MD
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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.
Carmen Serrano-Munuera, MD; Marc Corral-Juan, BSc; Giovanni Stevanin, PhD; et al.
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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.