ArticleHuman molecular genetics2009
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed.
- Development of Patient-Derived Neuroprogenitor Cells (hNPCs), Neurons and Astrocytes to Explore the Etiology of Guam Parkinsonism-Dementia Complex (PDC).bioRxiv : the preprint server for biology · 2025Article
- Cryo-EM structures of pathogenic fibrils and their impact on neurodegenerative disease research.Neuron · 2024Review
- Misfolded alpha-synuclein in amyotrophic lateral sclerosis: Implications for diagnosis and treatment.European journal of neurology · 2024Article
- Tau filaments from amyotrophic lateral sclerosis/parkinsonism-dementia complex adopt the CTE fold.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Endemic parkinsonism: clusters, biology and clinical features.Nature reviews. Neurology · 2023Review
- Infectious agents and amyotrophic lateral sclerosis: another piece of the puzzle of motor neuron degeneration.Journal of neurology · 2019Review
- Risk factors for breast cancer in the breast cancer risk model study of Guam and Saipan.Cancer epidemiology · 2017Article
- A critical review of the postulated role of the non-essential amino acid, β-N-methylamino-L-alanine, in neurodegenerative disease in humans.Journal of toxicology and environmental health. Part B, Critical reviews · 2017Review
- Power and Effective Study Size in Heritability Studies.Statistics in biosciences · 2016Article
- TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- Exposure to environmental toxicants and pathogenesis of amyotrophic lateral sclerosis: state of the art and research perspectives.International journal of molecular sciences · 2013Review
- C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex.JAMA neurology · 2013Article
- Inherited and somatic mitochondrial DNA mutations in Guam amyotrophic lateral sclerosis and parkinsonism-dementia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2011Article
- Amyotrophic lateral sclerosis: one or multiple causes?Neurology international · 2011Article
- Identifying the genetic components underlying the pathophysiology of movement disorders.The application of clinical genetics · 2011Article
- TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy.Journal of neuropathology and experimental neurology · 2010Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) is a fatal neurodegenerative disease found in the Chamorro people of Guam and other Pacific Island populations. The etiology is unknown, although both genetic and environmental factors appear important. To identify loci for ALS/PDC, we conducted both genome-wide linkage and association analyses, using approximately 400 microsatellite markers, in the largest sample assembled to date, comprising a nearly complete sample of all living and previously sampled deceased cases. A single, large, complex pedigree was ascertained from a village on Guam, with smaller families and a case-control sample ascertained from the rest of Guam by population-based neurological screening and archival review. We found significant evidence for two regions with novel ALS/PDC loci on chromosome 12 and supportive evidence for the involvement of the MAPT region on chromosome 17. D12S1617 on 12p gave the strongest evidence of linkage (maximum LOD score, Z(max) = 4.03) in our initial scan, with additional support in the complete case-control sample in the form of evidence of allelic association at this marker and another nearby marker. D12S79 on 12q also provided significant evidence of linkage (Z(max) = 3.14) with support from flanking markers. Our results suggest that ALS/PDC may be influenced by as many as three loci, while illustrating challenges that are intrinsic in genetic analyses of isolated populations, as well as analytical strategies that are useful in this context. Elucidation of the genetic basis of ALS/PDC should improve our understanding of related neurodegenerative disorders including Alzheimer disease, Parkinson disease, frontotemporal dementia and ALS.
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Registered trials
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