ArticleBMC neurology2008
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.
Article in BMC neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.Human mutation · 2013Pooled it
- The spectrum ofFrontiers in neuroscience · 2026Article
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- Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis.Frontiers in neuroscience · 2020Review
- Frontotemporal dementia: a bridge between dementia and neuromuscular disease.Annals of the New York Academy of Sciences · 2015Review
- Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.Frontiers in aging neuroscience · 2015Review
- Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43.Acta neuropathologica communications · 2013Article
- Laminar distribution of the pathological changes in sporadic frontotemporal lobar degeneration with transactive response (TAR) DNA-binding protein of 43 kDa (TDP-43) proteinopathy: a quantitative study using polynomial curve fitting.Neuropathology and applied neurobiology · 2013Article
- Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.Neurobiology of aging · 2013Article
- Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.Acta neuropathologica · 2013Article
- Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.European journal of human genetics : EJHG · 2013Article
- The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.European journal of human genetics : EJHG · 2013Article
- Article
- Investigation of c9orf72 in 4 neurodegenerative disorders.Archives of neurology · 2012Article
- How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Current opinion in neurology · 2012Review
- Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.Neurobiology of aging · 2012Article
- The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum.Annals of medicine · 2012Review
- Article
- The genetics and neuropathology of frontotemporal lobar degeneration.Acta neuropathologica · 2012Review
- Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.Archives of neurology · 2012Article
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFrontotemporal lobar degeneration (FTLD) represents a clinically, pathologically and genetically heterogenous neurodegenerative disorder, often complicated by neurological signs such as motor neuron-related limb weakness, spasticity and paralysis, parkinsonism and gait disturbances. Linkage to chromosome 9p had been reported for pedigrees with the neurodegenerative disorder, frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND). The objective in this study is to identify the genetic locus in a multi-generational Australian family with FTLD-MND.
methodsClinical review and standard neuropathological analysis of brain sections from affected pedigree members. Genome-wide scan using microsatellite markers and single nucleotide polymorphism fine mapping. Examination of candidate genes by direct DNA sequencing.
resultsNeuropathological examination revealed cytoplasmic deposition of the TDP-43 protein in three affected individuals. Moreover, we identify a family member with clinical Alzheimer's disease, and FTLD-Ubiquitin neuropathology. Genetic linkage and haplotype analyses, defined a critical region between markers D9S169 and D9S1845 on chromosome 9p21. Screening of all candidate genes within this region did not reveal any novel genetic alterations that co-segregate with disease haplotype, suggesting that one individual carrying a meiotic recombination may represent a phenocopy. Re-analysis of linkage data using the new affection status revealed a maximal two-point LOD score of 3.24 and a multipoint LOD score of 3.41 at marker D9S1817. This provides the highest reported LOD scores from a single FTLD-MND pedigree.
conclusionOur reported increase in the minimal disease region should inform other researchers that the chromosome 9 locus may be more telomeric than predicted by published recombination boundaries. Moreover, the existence of a family member with clinical Alzheimer's disease, and who shares the disease haplotype, highlights the possibility that late-onset AD patients in the other linked pedigrees may be mis-classified as sporadic dementia cases.
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