Research Topics
Genomes and Genes | Katrina Gwinn-HardySummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)Sarah Furtado
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada
Mov Disord 19:622-9. 2004..This review emphasizes the importance of testing for SCA2 in patients with parkinsonism and a family history of neurodegenerative disorders. Testing for SCA2 is also important in studies of inherited parkinsonism...
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discoveryKatrina Gwinn
National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS ONE 2:e1254. 2007..This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS...- Genetics of parkinsonismKatrina Gwinn-Hardy
Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
Mov Disord 17:645-56. 2002.... - The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseasesDena Hernandez
Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA
Neurosci Lett 389:137-9. 2005..The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease... - Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletionDavid W Miller
Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg 35, Rm 1A 100, 35 Convent Drive, Bethesda, MD 20892, USA
Neurosci Lett 374:189-91. 2005..We find there is not and discuss this result in terms of the putative relationships between alpha-synuclein and parkin... - Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of dataHon Chung Fung
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
Lancet Neurol 5:911-6. 2006.... - Mutation at the SCA17 locus is not a common cause of parkinsonismDena Hernandez
Molecular Genetics Section, National Institute on Aging, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
Parkinsonism Relat Disord 9:317-20. 2003..We did not find any repeat sizes in the pathogenic range. The repeats we observed ranged from 29 to 41 (mean 36.8; median 37). We conclude that SCA-17 repeat expansion mutations are not a common cause of familial parkinsonism... - Exercise-induced dystonia as a preceding symptom of familial Parkinson's diseaseMichiko K Bruno
Parkinson s Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Mov Disord 19:228-30. 2004..Further genotype-phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future... - Genetic testing in Parkinson's diseaseAideen McInerney-Leo
Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20952, USA
Mov Disord 20:1-10. 2005..We explore the utility, appropriateness, and possible implications of genetic testing for diagnostic and presymptomatic purposes... - Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's diseaseJavier Simon-Sanchez
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A100, MSC 3707, 35 Lincoln Drive, Bethesda, MD 20892, USA
Neurosci Lett 382:191-4. 2005..We identified one pathogenic expansion in SCA-2 in a North American family with autosomal dominant parkinsonism... - Genetics of Parkinson's disease and parkinsonismJohn Hardy
Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892, USA
Ann Neurol 60:389-98. 2006.... - Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutationJanel Johnson
Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA
Neurodegener Dis 4:386-91. 2007..Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism... - Preliminary results of an anticircumsporozoite DNA vaccine trial for protection against avian malaria in captive African black-footed penguins (Spheniscus demersus)K Christiana Grim
National Institute for Allergy and Infectious Diseases, The National Institutes of Health, Bethesda, Maryland 20892, USA
J Zoo Wildl Med 35:154-61. 2004..During the year of the vaccine trial, no mortalities due to malaria occurred and no undesirable vaccination side effects occurred. This is the first trial of an antimalarial vaccine in a captive penguin colony... - Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity featuresMelissa Hanson
Laboratory of Neurogenetics, National Institute on Aging National Institutes of Health, Bethesda, MD 20892, USA
J Neurol 251:1398-401. 2004.... - Parkinson's disease and dementia with Lewy bodies: a difference in dose?Andrew Singleton
Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
Lancet 364:1105-7. 2004 - A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementiaRoneil Malkani
Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35, Convent Drive, Bethesda, MD 20892, USA
Neurobiol Dis 22:401-3. 2006..This mutation sheds light on a novel mechanism by which over-expression of 4-repeat tau leads to disease. Based on our current findings, we propose a novel mechanism by which intronic mutations can lead to frontotemporal dementia... - Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplicationAmanda Singleton
Parkinson's Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Brain 127:768-72. 2004..These results indicate that both parkinsonism and cardiac sympathetic denervation can result from an excess of normal synuclein... - Endogenous TGF-beta activation by reactive oxygen species is key to Foxp3 induction in TCR-stimulated and HIV-1-infected human CD4+CD25- T cellsShoba Amarnath
Mucosal Immunology Unit, OIIB, NIDCR, NIH, Bethesda, MD 20895, USA
Retrovirology 4:57. 2007..We also explored the effects of TGF-beta on HIV-1 infection mediated induction of human Tregs since recent evidence has suggested that HIV-1 infection may also impact the generation of Tregs in infected patients... - CD4+CD25+ T regulatory cells and TGF-beta in mucosal immune system: the good and the badWanjun Chen
Mucosal Immunology Unit, Oral Infection and Immunity Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
Curr Med Chem 14:2245-9. 2007..In this article, we attempt to discuss both beneficial and detrimental effects of TGF-beta and Tregs on oral tolerance, mucosal inflammation and autoimmunity, colon cancer and HIV infection in the gut... - Compensatory evolution in the human malaria parasite Plasmodium ovaleThomas F McCutchan
Growth and Development Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 0425, USA
Genetics 166:637-40. 2004..The appearance of compensatory mutations and intermediate states in P. ovale raises interesting questions about population structure that could have considerable impact on the control of the associated disease... - Measuring the effects of an ever-changing environment on malaria controlThomas F McCutchan
Laboratory of Parasitic Diseases, Section of Growth and Development, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 0425, USA
Infect Immun 72:2248-53. 2004..These results indicate that dominant environmental parameters associated with malaria deaths can be addressed before their application to a less malleable human system... - Familial Lewy body diseasesKatrina Gwinn-Hardy
Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
J Geriatr Psychiatry Neurol 15:217-23. 2002.... - Prevalence of Parkinson's disease in populations of African ancestry: a reviewAideen McInerney-Leo
Medical Genetics Branch, National Human Genome Research Institute, Building 10, Room 3C710, 10 Center Drive, MSC 1253, Bethesda, MD 20892 1253, USA
J Natl Med Assoc 96:974-9. 2004.... - Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansJoyce van de Leemput
Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Genet 3:e108. 2007..We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans... - Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutationStephen Hague
Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
Ann Neurol 54:271-4. 2003..This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD... 
A critical function for TGF-beta signaling in the development of natural CD4+CD25+Foxp3+ regulatory T cellsYongzhong Liu
Mucosal Immunology Unit, Oral Infection and Immunity Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Immunol 9:632-40. 2008..Thus, transforming growth factor-beta signaling is critical to the thymic development of natural CD4+CD25+Foxp3+ T(reg) cells...- Parkin mutations and early-onset parkinsonism in a Taiwanese cohortRuey Meei Wu
Department of Neurology, National Taiwan University Hospital, No 7 Chung Shan South Road, Taipei 100, Taiwan
Arch Neurol 62:82-7. 2005..Loss of function of the parkin gene (PRKN) is the predominant genetic cause of juvenile and early-onset parkinsonism in Japan, Europe, and the United States... - Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individualsJavier Simon Sanchez
Molecular Genetics Unit, Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia CSIC, 46010, Valencia, Spain
Hum Mol Genet 16:1-14. 2007..It is likely that this powerful methodology will augment existing techniques in the identification of chromosomal abnormalities... - Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's diseaseMathias Toft
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
Mov Disord 22:389-92. 2007..3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease... - SCA2 may present as levodopa-responsive parkinsonismHaydeh Payami
Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA
Mov Disord 18:425-9. 2003..The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism... - Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and CaucasiansS H Subramony
University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi, USA
Mov Disord 17:1068-71. 2002..We suggest that trans-acting factors are responsible for the variable phenotype and discuss the implications of diseases showing racially different expressivities... - Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutationsRuey-Meei Wu
Department of Neurology, College of Medicine, National Taiwan University, and National Taiwan University Hospital, Taipei, Taiwan, Republic of China
Mov Disord 17:670-5. 2002..Furthermore, mRNA analyses identified aberrantly spliced parkin transcripts, suggesting that unusual parkin protein isoforms may be expressed in the brain and retain some function... - Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplicationsMatt Farrer
Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
Ann Neurol 55:174-9. 2004..The profound implications of alpha-synuclein overexpression for idiopathic synucleinopathies are discussed... - A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletionOkan Dogu
Movement Disorders Unit, Department of Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey
Mov Disord 19:812-6. 2004..To explore the importance of parkin in those of Turkish ancestry, we studied familial cases from that country, and identified a consanguineous family with early-onset Parkinson's disease due to a homozygous mutation in parkin... - Phenomenology of "Lubag" or X-linked dystonia-parkinsonismVirgilio Gerald H Evidente
Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259, USA
Mov Disord 17:1271-7. 2002..Thus, it is imperative to elicit an exhaustive family history in any Filipino male adult who presents with a movement disorder... - X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype?Virgilio Gerald H Evidente
Department of Neurology, Mayo Clinic Scottsdale, Scottsdale, Arizona 85259, USA
Mov Disord 17:200-2. 2002..We report on three cases of Lubag presenting with isolated parkinsonism without dystonia or late-onset dystonia and a slower course... - The tau H1 haplotype is associated with Parkinson's disease in the Norwegian populationMatt Farrer
Laboratory of Familial Movement Disorders, Mayo Clinic, Jacksonville, FL, USA
Neurosci Lett 322:83-6. 2002..52; 95% confidence interval: 2.64-11.10; P=2.17x10(-6)). Findings provide evidence that tau participates in the PD pathogenic process and demonstrate the value of isolated populations in mapping complex traits... - A family with a tau P301L mutation presenting with parkinsonismRuth H Walker
Department of Neurology, Bronx VA Medical Center, NY 10468, USA
Parkinsonism Relat Disord 9:121-3. 2002..The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2... - Limb cooling and focal dystoniaVirgilio Gerald H Evidente
Mov Disord 19:238. 2004 - Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot studyVirgilio Gerald H Evidente
Department of Neurology, Mayo Clinic, 13400 E Shea Boulevard, Scottsdale, AZ 85259, USA
Parkinsonism Relat Disord 10:407-10. 2004..Nine of 20 Lubag patients (45%) had ccUPSIT scores below the mean, with the lowest score being 11. This pilot study suggests that olfactory dysfunction may occur in Lubag patients... - Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeatsJennifer Hussey
Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
Genet Test 6:217-20. 2002..Using cloning and sequencing methods, we have constructed a ladder of ATX2 alleles of known size and sequence composition. This freely available size ladder will facilitate future quantification of expansions of the ATX2 locus... - Ethnic differences and disease phenotypesJohn Hardy
Science 300:739-40. 2003 - Parkinson's genetics: an embarrassment of richesKatrina Gwinn-Hardy
Ann Neurol 51:7-8. 2002 - The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairmentI Sheng Lin
Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, No 7, Chung Shan South Road, Taipei 100, Taiwan
Parkinsonism Relat Disord 13:246-9. 2007..This case expands the current phenotype associated with SCA17. SCA17 should be considered in the differential diagnosis of cases resembling multiple system atrophy, especially those with atypical features... - When is ataxia not ataxia?Katrina Gwinn-Hardy
Arch Neurol 61:25-6. 2004 - Analysis of the PINK1 gene in a large cohort of cases with Parkinson diseaseEkaterina Rogaeva
Centre for Research in Neurodegenerative Diseases and Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Ontario, Canada
Arch Neurol 61:1898-904. 2004..Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease... - Genome-wide analysis of the parkinsonism-dementia complex of GuamHuw R Morris
Department of Molecular Pathogenesis and Sara Koe PSP Research Centre, Queen Square Brain Bank for Neurological Disorders, Insatitute of Neurology, University College London, London, England, UK
Arch Neurol 61:1889-97. 2004..CONCLUSIONS: This study has not identified a single gene locus for PDC, confirming the impression of a geographic disease isolate with a complex genetic, a genetic/environmental etiology, or a purely environmental etiology... - Diagnostic criteria for psychosis in Parkinson's disease: report of an NINDS, NIMH work groupBernard Ravina
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14620, USA
Mov Disord 22:1061-8. 2007..These criteria require validation and may be refined, but form a starting point for studies of the epidemiology and pathophysiology of PDPsy, and are a potential indication for therapy development...
Research Grants
- Pathophysiology of Conduction Block in HNPP.Jun Li; Fiscal Year: 2010..Our study investigates molecular mechanisms responsible for the CB using HNPP and its animal model. ..