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Genomes and Genes | H HouldenSummaryAffiliation: University College London Country: UK Publications
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Publications
Clinical and genetic characterization of families with triple A (Allgrove) syndromeHenry Houlden
Department of Clinical Neurology, Institute of Neurology, London, UK
Brain 125:2681-90. 2002..Identifying further mutations and defining their phenotype along with functional protein analysis will help to characterize this neuroendocrine gene...- Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseasesAnna Sailer
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, London, UK
Neurology 79:127-31. 2012..Here we describe the use of exome sequencing to investigate a large, 5-generational British kindred with an autosomal dominant, progressive cerebellar ataxia in which conventional genetic testing had not revealed a causal etiology... - New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathyHenry Houlden
Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 78:1267-70. 2007..We report some unusual clinical features associated with GAN and Gigaxonin mutations as well as confirm the heterogeneity in GAN and the identification of two families with manifesting carriers... - Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11Henry Houlden
Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Nat Genet 39:1434-6. 2007..Affected brain tissue showed substantial cerebellar degeneration and tau deposition. These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration... - Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathyH Houlden
Department of Molecular Neurosciences, Neuro ophthalmology and MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery and The Institute of Neurology, Queen Square, London, UK
Eye (Lond) 23:966-74. 2009..To investigate and correlate the frequency and types of pupil abnormalities that are associated with hereditary peripheral neuropathy in a large cohort of patients prospectively examined... - Neurology and orthopaedicsHenry Houlden
Centre for Neuromuscular Disease and Department of Molecular Neurosciences, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 78:224-32. 2007..The management of these neurological problems is often coordinated in the neurology clinic, and this group, probably more than any other, requires a multidisciplinary team approach... - Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2H Houlden
Department of Molecular Neurosciences, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Neurology 71:1660-8. 2008.... - A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4HHenry Houlden
Institute of Neurology, Queen Square, London WC1N3BG, UK
Neurology 72:617-20. 2009..The locus responsible for CMT4H was assigned to chromosome 12p11.21-q13.11 by homozygosity mapping and mutations in the Frabin gene (FGD4 Rho GDP/GTP exchange factor) were subsequently identified in six families... - The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathyHenry Houlden
Department of Molecular Neurosciences and The MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery, The Institute of Neurology, Queen Square, London, WC1N 3BG, England, UK
Neuromuscul Disord 19:264-9. 2009.... - THAP1 mutations (DYT6) are an additional cause of early-onset dystoniaH Houlden
University College London Institute of Neurology, Queen Square, London WC1N 3BG, England
Neurology 74:846-50. 2010..The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families... - Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunctionHenry Houlden
Department of Molecular Neurosciences, Institute of Neurology, Queen Square, London, UK
Ann Neurol 56:730-4. 2004..These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction... - Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelinH Houlden
University Department of Clinical Neurology, Royal Free and University College Medical School, London, UK
Brain 124:907-15. 2001..Identifying further mutations and defining their phenotype will help to clarify the genetic classification of this group of disorders... - Early onset familial Alzheimer's disease: Mutation frequency in 31 familiesJ C Janssen
Dementia Research Group, Department of Clinical Neurology, Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK
Neurology 60:235-9. 2003..There may be a further genetic factor involved in the etiology of autosomal dominant early onset AD... - Variable phenotypes are associated with PMP22 missense mutationsM Russo
MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK
Neuromuscul Disord 21:106-14. 2011.... - Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)C Paisan-Ruiz
Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
Eur J Neurol 15:1065-70. 2008..Recently mutations on SPG11 gene (KIAA1840), which is localized to chromosome 15q13-q15, were shown to cause the majority of SPG11 cases... - Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelicH Houlden
Department of Neurology, Royal Free Hospital, London, UK
Neurology 61:1423-6. 2003..The father and two brothers are heterozygous for Met327Thr. One other mutation has been found in this PANK2 region associated with the HARP phenotype, suggesting a local genotype effect... - Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth diseaseM-J Lee
Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 73:304-6. 2002..Affected members in these six families had typical signs of CMT but in some affected members of three families there was additional central nervous system involvement or deafness in the absence of any other explanation other than CMT... - Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotypeH Houlden
Neurogenetics, Clinical Neurology and Dementia Research Group, Institute of Neurology, London
Neurology 56:1702-6. 2001..05 > CI 95% > 1.85]). CONCLUSIONS: The CBD tau association described here suggests that PSP and CBD share a similar cause, although the pathogenic mechanism behind the two diseases leads to a different clinical and pathologic phenotype... - Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)Henry Houlden
Department of Molecular Neurosciences, The National Hospital for Neurology and Neurosurgery and The Institute of Neurology, London, UK
Brain 129:411-25. 2006.... - Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutationsJ M Polke
Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK
Neurology 77:168-73. 2011..We present 3 families with early-onset CMT2 associated with compound heterozygous MFN2 mutations. Transcriptional analysis was performed to investigate the effects of the mutations... - A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type VH Houlden
University Department of Clinical Neurology, Institute of Neurology, London, United Kingdom
Ann Neurol 49:521-5. 2001..Mutations in this gene are known to be responsible for HSAN IV (congenital insensitivity to pain with anhidrosis). The two disorders are therefore likely to be allelic... - Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1Matthew Pitt
Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Trust, London, UK
Brain 126:2682-92. 2003..It is possible that infants that do not have mutations in the IGHMBP2 gene will be found to have mutations in a similar functioning gene... - Review: genetics and neuropathology of primary pure dystoniaR Paudel
Department of Molecular Neuroscience Queen Square Brain Bank and UCL Institute of Neurology, London, UK
Neuropathol Appl Neurobiol 38:520-34. 2012.... - SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegiaC Paisan-Ruiz
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, 35 Lincoln Drive, Building 35, Room 1A1015, Bethesda, MD 20824, USA
Neurology 70:1384-9. 2008..Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases... - Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorderCoro Paisan-Ruiz
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 150:993-7. 2009.... - A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMSBinith Cheeran
Institute of Neurology, Queen Square, London WC1N 3BG, UK
J Physiol 586:5717-25. 2008..Thus the polymorphism may be one factor that influences the natural response of the brain to injury and disease... - Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth diseaseHenry Houlden
Centre for Neuromuscular Disease and Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London, WC1N 3BG, UK
Neuromolecular Med 8:43-62. 2006..This review discusses what is known about these genes and in particular how they cause a peripheral neuropathy, when mutated... - Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansionG Koutsis
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
J Neurol 259:1874-8. 2012..The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients... - Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohortG L Davidson
Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK
J Neurol 259:1673-85. 2012..The p.Cys133Trp mutation in SPTLC1 is the most common cause of HSAN in the UK population and should be screened first in all patients with sporadic or autosomal dominant HSAN... - The neuropathology, pathophysiology and genetics of multiple system atrophyZ Ahmed
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
Neuropathol Appl Neurobiol 38:4-24. 2012..Our current knowledge of the expression and accumulation of α-synuclein, and efforts to model the disease in vitro and in vivo, are emphasized in this paper and have helped formulate a working hypothesis for the pathogenesis of MSA... - Genotypic and phenotypic heterogeneity in familial microcoriaF D Bremner
Department of Neuro ophthalmology Box 142, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Br J Ophthalmol 88:469-73. 2004..To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait... - Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's diseaseJuliane Neumann
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
Brain 132:1783-94. 2009.... - Analysis of tau haplotypes in Pick's diseaseH R Morris
Neurogenetics, Institute of Neurology, Reta Lila Weston Institute of Neurological Research, University College London, UK
Neurology 59:443-5. 2002..There was no difference between the tau H2 haplotype or H2H2 genotype frequency in PiD cases and control subjects. No tau mutations were identified in pathologically typical cases of PiD, with antibody 12-E8-negative Pick bodies... - Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutationsCoro Paisan-Ruiz
Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
Mov Disord 25:1791-800. 2010..These data suggest that these four genes account for many cases of Levodopa responsive parkinsonism with pyramidal signs cases formerly categorized clinically as pallido-pyramidal syndrome... - Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementiaJ L Holton
Department of Neuropathology, Institute of Neurology, University College London, London, United Kingdom
Am J Pathol 158:515-26. 2001..Immunoblotting for tau revealed a triplet electrophoretic migration pattern. Our observations confirm a close link between ABri deposition and neurodegeneration in FBD... - Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein geneM C Chartier-Harlin
Department of Biochemistry, St Mary s Hospital Medical School, Imperial College, London, UK
Nature 353:844-6. 1991..The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations... - Clinical and genetic analysis of spinocerebellar ataxia type 11Janel Johnson
Neurogenetics, Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK
Cerebellum 7:159-64. 2008..3 in a Caucasian family of British ancestry. We also discuss the refining of this region, and methods used to prioritize the screening of the over 130 candidate genes in this genomic region... - Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing Jen Lee
Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
Hum Mol Genet 12:1917-25. 2003..This is the first report of a mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mis-folding proteins may be a cause of this group of neuropathies... - Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)Katherine J Dick
Medical Genetics, Clinical Developmental Sciences, St George s University of London, London, UK
Hum Mutat 31:E1251-60. 2010..c) 2010 Wiley-Liss, Inc... - Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54Peter Green
Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK
Am J Hum Genet 86:485-9. 2010..We identified a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families... - Use of the Barthel Index and the Functional Independence Measure during early inpatient rehabilitation after single incident brain injuryHenry Houlden
Regional Neurological Rehabilitation Unit, Homerton Hospital, London, UK
Clin Rehabil 20:153-9. 2006..These findings suggest that none of the FIM scores have any advantage over the Barthel Index in evaluating change in these circumstances... - Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementiaGregory A Rippon
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Arch Neurol 60:884-8. 2003..The M139V mutation can lead to atypical AD, and genetic background may have a role in determining the phenotype of genetically defined AD... - A novel RAB7 mutation associated with ulcero-mutilating neuropathyHenry Houlden
University Department of Clinical Neurosciences, Royal Free Campus, Royal Free and University College Medical School, University College London, United Kingdom
Ann Neurol 56:586-90. 2004..The mutation is situated adjacent to a previously identified valine to methionine mutation at codon 162, implying a hotspot for mutations in the highly conserved C terminus of RAB7... - Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutationMamede de Carvalho
Neurology 59:1823; author reply 1823. 2002 - POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth diseaseTimothy Harrower
Department of Neurology, Essex Center for Neurological Sciences, Queen s Hospital, Romford, England
Arch Neurol 65:133-6. 2008..Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge... - A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathyAndrew Grover
Laboratory of Neurogenetics, Neuroscience Department, Mayo Clinic, Jacksonville, FL 32224, USA
Exp Neurol 184:131-40. 2003.... - Familial idiopathic brain calcification--a new and familial alpha-synucleinopathy?Samden D Lhatoo
Department of Neurology, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol, UK
Eur Neurol 49:223-6. 2003..This may represent a new and familial alpha-synuclein disorder causing a predominantly extrapyramidal picture similar to multisystem atrophy... - The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN geneMarzieh Salehi
Department of Medicine, Division of Endocrinology and Metabolism, Beth Israel Medical Center, Albert Einstein College of Medicine, New York, NY 10003, USA
Metabolism 54:200-5. 2005.... - Hereditary sensory neuropathiesHenry Houlden
Curr Opin Neurol 17:569-77. 2004....