Research Topics
Genomes and Genes | Ammar Al-ChalabiSummaryAffiliation: King's College London Country: UK Publications
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Publications
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotypeMatthew J Parton
Department of Neurology, Guy s, King s and St Thomas School of Medicine and the Institute of Psychiatry, London SE5 8AF, UK
Hum Mutat 20:473. 2002..We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression...
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophyAmmar Al-Chalabi
MRC Centre for Neurodegeneration Research, King s College London, Department of Clinical Neuroscience, Institute of Psychiatry, and NIHR Biomedical Research Centre, London, United Kingdom
PLoS ONE 4:e7114. 2009..Genetic variants of the alpha-synuclein gene, SNCA, are thus strong candidates for genetic association with MSA. One follow-up to a genome-wide association of Parkinson's disease has identified association of a SNP in SNCA with MSA...- Neurofilaments and neurological diseaseAmmar Al-Chalabi
Departments of Neuroscience and Neurology, Institute of Psychiatry, King s College London, London SE5 8AF, UK
Bioessays 25:346-55. 2003..In this review, we discuss the structure, normal function and molecular pathology of neurofilaments... - Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosisAmmar Al-Chalabi
Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King s College London, London, United Kingdom
Ann Neurol 54:130-4. 2003..There was no difference in age of onset, clinical presentation, rate of progression, or disease duration for those with one or two copies of the null allele, excluding CNTF as a major disease modifier in ALS... - Birth order and the genetics of amyotrophic lateral sclerosisUmesh Vivekananda
MRC Centre for Neurodegeneration, Research, P043, King s College London, Dept of Neurology, Institute of Psychiatry, London, SE5 8AF, UK
J Neurol 255:99-102. 2008..This is encouraging for the prospect of finding sporadic ALS susceptibility genes using genome-wide association mapping... - Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16qDeborah M Ruddy
Department of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London, United Kingdom
Am J Hum Genet 73:390-6. 2003..5 Mb on the Marshfield map. Bioinformatic analysis of the region has identified 18 known genes and 70 predicted genes in this region, and sequencing of candidate genes has now begun... 
An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive declineClaire Troakes
King s College London, MRC Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, De Crespigny Park, London, UK
Neuropathology 32:505-14. 2012..We conclude that these chromosome 9-linked MND/ALS cases represent a pathological sub-group with abundant p62 pathology in the cerebral cortex, hippocampus and cerebellum but with no significant associated cognitive decline...- A proposed staging system for amyotrophic lateral sclerosisJose C Roche
MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London SE5 8AF, UK
Brain 135:847-52. 2012..The standardized times to milestones may well vary between different studies and populations, although the stages themselves and their meanings are likely to remain unchanged... - The association between ALS and population density: A population based studyKirsten M Scott
King s College Hospital, London, UK
Amyotroph Lateral Scler 11:435-8. 2010..5, p < 0.01). Thus, in this cohort in the south-east of England, people with ALS were more likely to be resident in areas of high population density at diagnosis... - Genotyping DNA pools on microarrays: tackling the QTL problem of large samples and large numbers of SNPsEmma Meaburn
Social, Genetic and Developmental Psychiatry Centre, Box Number P082, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
BMC Genomics 6:52. 2005..An efficient solution is to genotype case and control DNA pools using SNP microarrays. We demonstrate that this is practical using DNA pools of 100 individuals... - Large-scale pathways-based association study in amyotrophic lateral sclerosisDalia Kasperaviciute
Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK
Brain 130:2292-301. 2007..It is reliable for large scale genotyping studies of diseases such as ALS, where DNA sample collections are limited because of low disease prevalence and short survival time... - Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patientsLauren Johnson
Centre for Neurodegeneration Research, Institute of Psychiatry, King s College London, King s Health Partners, UK
Neurobiol Aging 33:2948.e15-7. 2012..These are not predicted to alter splicing and are therefore unlikely to be pathogenic. We conclude that OPTN mutations associated with ALS are rare in British ALS patients... - Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6Caroline Vance
Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
Science 323:1208-11. 2009..FUS is involved in the regulation of transcription and RNA splicing and transport, and it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration... - Geographical clustering of amyotrophic lateral sclerosis in South-East England: a population studyKirsten M Scott
King s College Medical School at Guy s, King s College and St Thomas s Hospitals, London, UK
Neuroepidemiology 32:81-8. 2009..We tested this hypothesis using the South-East England ALS population register, which covers south-east London, Kent and parts of neighbouring counties... - Comparison of two percutaneous radiological gastrostomy tubes in the nutritional management of ALS patientsAlan Rio
Department of Nutrition and Dietetics, King s College Hospital, London, UK
Amyotroph Lateral Scler Other Motor Neuron Disord 6:177-81. 2005..We conclude that the Entristar skin level gastrostomy tube is associated with a reduction in peristomal infection, tube failure and blockage compared with the Wills-Oglesby tube... - Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3Caroline Vance
Department of Neurology, King s College London School of Medicine, London, UK
Brain 129:868-76. 2006..02 (theta = 0) at D9S1878. Recombination narrowed the conserved haplotype to 12 cM (11 Mb) at 9p13.2-21.3 (flanking markers D9S2154 and D9S1874). Bioinformatic analysis of the region has identified 103 known genes... - ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis geneticsOlubunmi Abel
Department of Clinical Neuroscience, King s College London, Institute of Psychiatry, London, UK
Hum Mutat 33:1345-51. 2012..Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD... - Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degenerationClaire L Simpson
Department of Neurology, King s College London, London SE5 8AF, UK
Hum Mol Genet 18:472-81. 2009..01). These findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP3 variants in ALS... - Amyotrophic lateral sclerosis as a complex genetic diseaseClaire L Simpson
MRC Centre for Neurodegeneration Research P 043, King's College London, Institute of Psychiatry, London SE5 8AF, UK
Biochim Biophys Acta 1762:973-85. 2006..We examine the statistical genetic principles that underpin this model and review what is known about ALS as a disease with complex genetics... - TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisJemeen Sreedharan
Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK
Science 319:1668-72. 2008..Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS... - Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feedingJulia Johnson
Speech and Language Therapy Department, King s College Hospital, London, UK
Amyotroph Lateral Scler 13:555-9. 2012..2 = 10(-4))... - The risk to relatives of patients with sporadic amyotrophic lateral sclerosisMartha F Hanby
MRC Centre for Neurodegeneration Research, Institute of Psychiatry P 041, London SE5 8AF, UK
Brain 134:3454-7. 2011..In practice, this means the risk of remaining unaffected by age 85 dropped from 99.7% to 97.6%. Relatives of people with sporadic amyotrophic lateral sclerosis have a small but definite increased risk of being affected... - Latent cluster analysis of ALS phenotypes identifies prognostically differing groupsJeban Ganesalingam
Department of Clinical Neuroscience, MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, United Kingdom
PLoS ONE 4:e7107. 2009..We used latent cluster analysis to identify groupings of clinical variables in an objective and unbiased way to improve phenotyping for clinical and research purposes... - Genetic studies of amyotrophic lateral sclerosis: controversies and perspectivesAna Beleza-Meireles
MRC Centre for Neurodegeneration Research, King s College London Institute of Psychiatry, UK
Amyotroph Lateral Scler 10:1-14. 2009..In this review we examine the evidence for a genetic basis to ALS, discuss the challenges and difficulties faced and summarize the support for the reported genetic causes of ALS... - Cortical involvement in four cases of primary lateral sclerosis using [(11)C]-flumazenil PETMartin R Turner
Department of Neurology, The Radcliffe Infirmary, Oxford, UK
J Neurol 254:1033-6. 2007.... - Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerabilityUmesh Vivekananda
King s College London School of Medicine, London, UK
J Neurol Neurosurg Psychiatry 82:635-7. 2011.... - Prognostic categories for amyotrophic lateral sclerosisWilliam J Scotton
MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, UK
Amyotroph Lateral Scler 13:502-8. 2012..In conclusion, it is possible to correctly classify patients into prognostic categories using clinical data easily available at time of diagnosis... - Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patientsJack W Miller
Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London, UK
Neurobiol Aging 33:2721.e1-2. 2012..This study failed to detect any exonic variations in a subset of British familial and sporadic ALS patients... - The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderBradley N Smith
Department of Clinical Neurosciences, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, London, UK
Eur J Hum Genet 21:102-8. 2013..We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe... - Interaction between PON1 and population density in amyotrophic lateral sclerosisFrank P Diekstra
MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, UK
Neuroreport 20:186-90. 2009..A case-only analysis was carried out and median population density was used to categorize patients into rural or urban environments. We found a significant interaction with population density for marker rs854560 (L55M) in ALS... - ALSOD: the Amyotrophic Lateral Sclerosis Online DatabaseRichard Wroe
Department of Neuroscience, MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, UK
Amyotroph Lateral Scler 9:249-50. 2008..Additionally, ALSOD now provides a more comprehensive knowledge base for ALS, detailing genetic, proteomic, and bioinformatics information associated with the disease. ALSOD can be accessed at http://alsod.iop.kcl.ac.uk/als/... - A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarraysClaire L Simpson
Department of Neurology, PO43, Institute of Psychiatry London SE5 8AF, UK
Nucleic Acids Res 33:e25. 2005.... - Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosisMartin R Turner
Department of Neurology, John Radcliffe Hospital, Oxford, UK
Amyotroph Lateral Scler 8:343-7. 2007..This study provides further evidence for a different pattern of cortical neuronal vulnerability in homD90A versus SALS patients that may provide insight as to their slower rate of disease progression... - The genetics and neuropathology of amyotrophic lateral sclerosisAmmar Al-Chalabi
Department of Clinical Neuroscience, King s College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
Acta Neuropathol 124:339-52. 2012..In this review, we explore the genetic architecture of ALS, highlight some of the genes implicated in pathogenesis, and describe their phenotypic range and overlap with other diseases... - Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic lateral sclerosis (LiCALS) [Eudract number: 2008-006891-31]Ammar Al-Chalabi
MRC Centre for Neurodegeneration Research, King s College London, Department of Clinical Neuroscience, London SE5 8AF, UK
BMC Neurol 11:111. 2011..Although the trial can be criticised on several grounds, there is a substantial rationale from other laboratory studies that lithium is worth investigating therapeutically in amyotrophic lateral sclerosis... - Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association studyAleksey Shatunov
King s College London, Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, London, UK
Lancet Neurol 9:986-94. 2010.... - Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institutionDylan Lewis
Department of Radiology, King s College Hospital, Denmark Hill, London, SE5 9RS, UK
Eur Radiol 19:1763-71. 2009..5 days (range 43-537 days). A mushroom-cage RIG tube may be safely and effectively inserted in a 'one-step' radiological procedure and may replace endoscopic-inserted gastrostomy tubes in the nutritional management of ALS... - Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?Lorna J Taylor
Department of Psychology, Institute of Psychiatry, King s College London, PO 77, De Crespigny Park, London SE5 8AF, UK
J Neurol Neurosurg Psychiatry 84:494-8. 2013..Systematic explorations of language abilities in patients with amyotrophic lateral sclerosis (ALS) are lacking in the context of wider cognitive change... - p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALSSafa Al-Sarraj
Department of Clinical Neuropathology, Kings College Hospital, Denmark Hill, London SE5 9RS, UK
Acta Neuropathol 122:691-702. 2011..Our results suggest that proteins other than TDP-43 are binding p62 and aggregating in response to the mutation which may play a mechanistic role in neurodegeneration... - Molecular insights and therapeutic targets in amyotrophic lateral sclerosisVineeta B Tripathi
MRC Centre for Neurodegeneration Research, King s College London, P 043 Institute of Psychiatry, London SE5 8AF, UK
CNS Neurol Disord Drug Targets 7:11-9. 2008..In this paper we will review current ideas about the causes of ALS and the therapeutic opportunities they suggest... - Meta-analysis of linkage studies for Alzheimer's disease--a web resourceAmy W Butler
King s College London, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, London, UK
Neurobiol Aging 30:1037-47. 2009..iop.kcl.ac.uk/) to present additional GSMA analyses with different study selection criteria, facilitate the reanalysis of genome-wide linkage data and provide open access to the GSMA data... - The sex ratio in amyotrophic lateral sclerosis: A population based studyZita R Manjaly
King s College Hospital, London, UK
Amyotroph Lateral Scler 11:439-42. 2010..We concluded that sex ratios in ALS may change with age. Over-representation of younger patients in clinic registers may explain the variation in sex ratios between studies. Menopause may also play a role... - Three soccer playing friends with simultaneous amyotrophic lateral sclerosisPaul Wicks
MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, Department of Psychology, London, UK
Amyotroph Lateral Scler 8:177-9. 2007..We report a cluster of three amateur league soccer players who were friends from the same part of southern England, and developed ALS simultaneously. This might suggest that keen amateur soccer players are also at risk... - Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder?Jeremy D Isaacs
King s College London MRC Centre for Neurodegeneration Research, Department of Neurology, Institute of Psychiatry, London, UK
J Neurol Neurosurg Psychiatry 78:750-3. 2007..These findings support the hypothesis that ALS is a multisystem neurodegenerative disorder that may occasionally include sensory neuropathy among its non-motor features... - Chromosome 9 ALS and FTD locus is probably derived from a single founderKin Mok
Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
Neurobiol Aging 33:209.e3-8. 2012..The most parsimonious explanation of these data are that there is a single founder for this form of disease... - Modelling the effects of penetrance and family size on rates of sporadic and familial diseaseAmmar Al-Chalabi
Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, London, UK
Hum Hered 71:281-8. 2011..We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality... - Survival of patients with ALS following institution of enteral feeding is related to pre-procedure oximetry: a retrospective review of 98 patients in a single centreAshley S Shaw
Department of Radiology, King's College Hospital, London, UK
Amyotroph Lateral Scler 7:16-21. 2006..03; relative risk 1.97). It is concluded that RIG and PEG are equivalent in terms of post-procedure survival. Abnormal oximetry prior to the procedure is a significant indicator of post-procedure survival... - No association of DPP6 with amyotrophic lateral sclerosis in an Italian populationIsabella Fogh
MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, UK
Neurobiol Aging 32:966-7. 2011..Minor allele frequency was 0.38 in cases and 0.39 in controls and no evidence of association with ALS was observed (P=0.638). Our negative results agree with those recently reported in additional Polish and Italian cohorts... - Electrical injury and amyotrophic lateral sclerosis: a systematic review of the literatureKumar Abhinav
Queen Elizabeth Hospital, London, UK
J Neurol Neurosurg Psychiatry 78:450-3. 2007..A non-progressive spinal cord syndrome is associated with more severe electrical injury. Overall, the evidence reviewed does not support a causal relationship between ALS and electric shock... - Trouble on the pitch: are professional football players at increased risk of developing amyotrophic lateral sclerosis?Ammar Al-Chalabi
Department of Clinical Neuroscience, Institute of Psychiatry P041 King s College London SE5 8AF, UK
Brain 128:451-3. 2005 - MaGIC: a program to generate targeted marker sets for genome-wide association studiesClaire L Simpson
Institute of Psychiatry, Kings College London, London, UK
Biotechniques 37:996-9. 2004..The program and source code is freely available at http://cogent.iop.kcl.ac.uk/MaGIC.cogx... - A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+Neeti Hindocha
Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London, United Kingdom
Epilepsia 50:937-42. 2009..The two mutations identified in families with ADFS are in genes implicated in GEFS+, SCN1A, and GABRG2. We conclude that it is inappropriate to separate GEFS+ and ADFS at present given the clinical and genotypic overlap... - Genotyping pooled DNA on microarrays: a systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traitsLee M Butcher
Social, Genetic and Developmental Psychiatry Centre, Box Number P082, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
Behav Genet 34:549-55. 2004..Thus, genotyping pooled DNA on microarrays can provide a systematic and powerful approach for identifying QTL associations for complex traits including behavioral dimensions and disorders... - Association of a Serotonin Receptor 2A Gene Polymorphism with Visual Sustained Attention in Early-Onset Schizophrenia Patients and their Non-Psychotic SiblingsNora S Vyas
Child Psychiatry Branch, National Institutes of Health, National Institute of Mental Health, Bethesda, Maryland, USA MRC Social, Genetic and Developmental Psychiatry Centre, and Department of Psychosis Studies, Institute of Psychiatry, King s College London, UK
Aging Dis 3:291-300. 2012..There was no significant relationship between the polymorphism and clinical parameters, as measured using the PANSS. Our findings suggest that the C allele may be related to sustained attentional impairments in EOS... - Association study on glutathione S-transferase omega 1 and 2 and familial ALSElsmarieke van de Giessen
Department of Neurology, Institute of Psychiatry, King s College London, London, UK
Amyotroph Lateral Scler 9:81-4. 2008..In the Swedish patients, association for age of onset was found with several SNPs (p = 0.003-0.048). These results suggest a possible effect of the GSTO1 and 2 locus on age of onset of FALS... - Susceptibility genes in sporadic ALS: separating the wheat from the chaff by international collaborationChristopher E Shaw
Neurology 67:738-9. 2006 - A common haplotype within the PON1 promoter region is associated with sporadic ALSJohn E Landers
Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA, USA
Amyotroph Lateral Scler 9:306-14. 2008..75E-05). We conclude that a common haplotype within the PON1 promoter region is associated with susceptibility to sporadic ALS... - Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutationNeeti Hindocha
Epilepsia 49:360-5. 2008 - VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic deathDiether Lambrechts
The Center for Transgene Technology and Gene Therapy, Flanders Interuniversity Institute for Biotechnology and Department of Neurology, University Hospital Gasthuisberg, KU Leuven, Leuven, B 3000, Belgium
Nat Genet 34:383-94. 2003..These findings indicate that VEGF is a modifier of motoneuron degeneration in human ALS and unveil a therapeutic potential of Vegfa for stressed motoneurons in mice... - The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failureEttore Beghi
Istituto di Ricerche Farmacologiche Mario Negri, Via La Masa 19, 20156 Milano, Italy
Curr Med Chem 14:3185-200. 2007.... - Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosisAmmar Al-Chalabi
Neurogenetics 4:221-2. 2003 - Early symptom progression rate is related to ALS outcome: a prospective population-based studyMartin Turner
Neurology 59:2012-3; author reply 2013. 2002 - Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familialityIsabella Fogh
Neurogenetics 8:235-6. 2007 - Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city LondonClare A Johnston
J Neurol 253:1642-3. 2006 - A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian populationAgnes L Nishimura
Human Genome Research Center, Biosciences Institute, , , 277, sala 211, , , Brazil, CEP 05508-090
Hum Genet 118:499-500. 2005..Haplotype analysis shows a common founder for all families regardless of ancestry, with a founding event 23 generations ago (95% CI 13-39), consistent with the Portuguese colonization of Brazil...