Z K Wszolek

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi request reprint Autosomal dominant dystonia-plus with cerebral calcifications
    Z K Wszolek
    Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 67:620-5. 2006
  2. pmc TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    Sruti Rayaprolu
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Mol Neurodegener 8:19. 2013
  3. pmc Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study
    Minerva M Carrasquillo
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Mol Neurodegener 6:54. 2011
  4. pmc Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
    Shinsuke Fujioka
    Department of Neurology at Mayo Clinic, 4500 San Pablo Road Cannaday Bldg 2 E, Jacksonville, FL 32224, USA
    Orphanet J Rare Dis 8:14. 2013
  5. pmc MRI characteristics and scoring in HDLS due to CSF1R gene mutations
    Christina Sundal
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Neurology 79:566-74. 2012
  6. pmc Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications
    Mariet Allen
    Mayo Clinic Florida, Department of Neuroscience, Jacksonville, FL, USA
    Mol Neurodegener 7:13. 2012
  7. pmc Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study
    Lisa F Potts
    Department of Anatomical Sciences and Neurobiology, University of Louisville, KY, USA
    BMC Med Genet 13:16. 2012
  8. pmc Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics
    Nathaniel Robb Whaley
    Tri State Mountain Neurology, 105 Woodlawn Dr, Johnson City, TN 27604, USA
    Orphanet J Rare Dis 6:33. 2011
  9. pmc High-throughput mutational analysis of TOR1A in primary dystonia
    Jianfeng Xiao
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA
    BMC Med Genet 10:24. 2009
  10. pmc A family with Parkinsonism, essential tremor, restless legs syndrome, and depression
    A Puschmann
    Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 76:1623-30. 2011

Detail Information

Publications134 found, 100 shown here

  1. ncbi request reprint Autosomal dominant dystonia-plus with cerebral calcifications
    Z K Wszolek
    Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 67:620-5. 2006
    ..To report genealogic, clinical, imaging, neuropathologic, and genetic data from a Canadian kindred with dystonia and brain calcinosis originally described in 1985...
  2. pmc TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    Sruti Rayaprolu
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Mol Neurodegener 8:19. 2013
    ..With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders...
  3. pmc Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study
    Minerva M Carrasquillo
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Mol Neurodegener 6:54. 2011
    ..abstract:..
  4. pmc Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
    Shinsuke Fujioka
    Department of Neurology at Mayo Clinic, 4500 San Pablo Road Cannaday Bldg 2 E, Jacksonville, FL 32224, USA
    Orphanet J Rare Dis 8:14. 2013
    ..There is no cure for ADCA Type III, but a number of recent studies have highlighted novel therapies, which bring hope for future curative treatments...
  5. pmc MRI characteristics and scoring in HDLS due to CSF1R gene mutations
    Christina Sundal
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Neurology 79:566-74. 2012
    ..To describe the brain MRI characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS) with known mutations in the colony-stimulating factor 1 receptor gene (CSF1R) on chromosome 5...
  6. pmc Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications
    Mariet Allen
    Mayo Clinic Florida, Department of Neuroscience, Jacksonville, FL, USA
    Mol Neurodegener 7:13. 2012
    ..4,617 controls) and PD (678 PDs vs. 712 controls) for association with disease risk (case-controls), age-at-diagnosis (cases) and brain gene expression levels (autopsied subjects)...
  7. pmc Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study
    Lisa F Potts
    Department of Anatomical Sciences and Neurobiology, University of Louisville, KY, USA
    BMC Med Genet 13:16. 2012
    ....
  8. pmc Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics
    Nathaniel Robb Whaley
    Tri State Mountain Neurology, 105 Woodlawn Dr, Johnson City, TN 27604, USA
    Orphanet J Rare Dis 6:33. 2011
    ..Care is therefore supportive. Occupational and physical therapy for gait dysfunction and speech therapy for dysarthria is essential. Prognosis is variable depending on the type of ADCA and even among kindreds...
  9. pmc High-throughput mutational analysis of TOR1A in primary dystonia
    Jianfeng Xiao
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA
    BMC Med Genet 10:24. 2009
    ..The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia...
  10. pmc A family with Parkinsonism, essential tremor, restless legs syndrome, and depression
    A Puschmann
    Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 76:1623-30. 2011
    ..Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS)...
  11. ncbi request reprint Frontotemporal dementia and parkinsonism linked to chromosome 17
    Zbigniew K Wszołek
    Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonsville, FL 32224, USA
    Folia Neuropathol 43:258-70. 2005
    ..The definitive diagnosis of FTDP-17 requires a set of clinical and pathological features combined with a molecular genetic analysis. Currently, there is no known effective treatment for FTDP-17...
  12. pmc Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
    Zbigniew K Wszolek
    Department of Neurology, Mayo Clinic, FL, USA
    Orphanet J Rare Dis 1:30. 2006
    ..The prognosis and rate of the disease's progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades...
  13. pmc Association of the MAPT locus with Parkinson's disease
    C Wider
    Department of Neuroscience, Mayo Clinic, Molecular Genetics Laboratory and Core, Morris K Udall Parkinsons Disease Research Center of Excellence, Jacksonville, FL 32224, USA
    Eur J Neurol 17:483-6. 2010
    ..Whilst an association between the tau gene (MAPT)-containing H1 haplotype and supranuclear gaze palsy (PSP) has long been recognized, the effect of H1 on risk for Parkinson's disease (PD) has remained more contentious...
  14. pmc Characterization of DCTN1 genetic variability in neurodegeneration
    C Vilariño-Güell
    Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 72:2024-8. 2009
    ....
  15. pmc Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations
    J L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 73:1058-65. 2009
    ..To use a case-control study to assess and compare patterns of gray matter loss across groups of subjects with different mutations in the microtubule-associated protein tau (MAPT) gene...
  16. pmc Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN
    J L Whitwell
    Department of Radiology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Neurology 77:393-8. 2011
    ..To use multiple serial MRI to assess rates and trajectories of brain and hippocampal atrophy in subjects with frontotemporal dementia (FTD) with progranulin (GRN) or microtubule-associated protein tau (MAPT) gene mutations...
  17. pmc MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology
    K Kantarci
    Departmentsof Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 75:771-8. 2010
    ..To determine the proton magnetic resonance spectroscopy ((1)H MRS) changes in carriers of microtubule-associated protein (MAPT) mutations in a case-control study...
  18. ncbi request reprint Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
    Z K Wszolek
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 62:1619-22. 2004
    ..Genetic studies suggested linkage to the PARK8 locus on chromosome 12...
  19. doi request reprint Calbindin-1 association and Parkinson's disease
    A I Soto-Ortolaza
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Eur J Neurol 17:208-11. 2010
    ..Recently, an association was reported between the calcium buffer, calbindin (rs1805874) and risk of PD in a Japanese patient-control series...
  20. doi request reprint Death-associated protein kinase 1 variation and Parkinson's disease
    J C Dachsel
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Eur J Neurol 18:1090-3. 2011
    ..The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer's disease...
  21. doi request reprint SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study
    C Wider
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Eur J Neurol 18:876-81. 2011
    ..In the current study, we attempt to validate previously published findings, evaluating gene-gene interactions between SNCA, MAPT, and GSK3B in association with PD...
  22. ncbi request reprint Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
    A B West
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, FL 32224, USA
    Eur J Hum Genet 9:659-66. 2001
    ..5 Mb. Analysis of 14 genes within the region did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely candidates for PARK3...
  23. pmc Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN
    J L Whitwell
    Department of Radiology Research, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 72:813-20. 2009
    ..To compare patterns of gray matter loss in subjects with mutations in the progranulin (PGRN) gene to subjects with mutations in the microtubule-associated protein tau (MAPT) gene...
  24. pmc Pallidonigral TDP-43 pathology in Perry syndrome
    Christian Wider
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Parkinsonism Relat Disord 15:281-6. 2009
    ..This study reports clinical, genetic and neuropathologic investigations of Perry syndrome...
  25. ncbi request reprint GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease
    B Jasinska-Myga
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Eur J Neurol 16:909-11. 2009
    ..rs5848 is located within a micro-RNA binding site and affects the expression of GRN...
  26. pmc TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
    N Finch
    Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 76:467-74. 2011
    ....
  27. doi request reprint GCH1 in early-onset Parkinson's disease
    Stephanie A Cobb
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Mov Disord 24:2070-5. 2009
    ..This study does not support a significant role for genetic variation at the GCH1 locus in EOPD. However, our results further highlight the relevance of PRKN screening in familial EOPD...
  28. ncbi request reprint Gender and the Parkinson's disease phenotype
    Yasuhiko Baba
    Dept of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    J Neurol 252:1201-5. 2005
    ..To determine whether there are gender differences in the Parkinson's disease (PD) phenotype using a large clinic-based cohort...
  29. ncbi request reprint Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation
    Y Baba
    Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA
    J Neural Transm 114:947-50. 2007
    ..Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course...
  30. pmc Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke
    M G Heckman
    Biostatistics Unit, Mayo Clinic, Jacksonville, FL 32224, USA
    Eur J Neurol 20:300-8. 2013
    ..This study evaluated whether genetic risk factors for CAD and MI also affect susceptibility to ischaemic stroke in Caucasians and African Americans...
  31. doi request reprint Susceptibility genes for restless legs syndrome are not associated with Parkinson disease
    C Vilariño-Güell
    Department of Neuroscience, Division of Neurogenetics, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 71:222-3. 2008
  32. pmc Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
    K Haugarvoll
    Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurology 70:1456-60. 2008
    ..Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C...
  33. ncbi request reprint Recent advances in the understanding of tau protein and movement disorders
    Z Arvanitakis
    Mayo Clinic, Jacksonville, Florida 32224, USA
    Curr Opin Neurol 14:491-7. 2001
    ..Despite recent advances in the understanding of the tauopathies, there are still no curative therapies available. It is hoped that studies in transgenic tau animal models will lead to the development of successful treatments...
  34. pmc Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD
    J L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 77:866-74. 2011
    ....
  35. ncbi request reprint Thalamic deep brain stimulation for essential tremor: recommendations for long-term outcome analysis
    J D Putzke
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Can J Neurol Sci 31:333-42. 2004
    ..Determine the efficacy of thalamic deep brain stimulation (DBS) for tremor control among individuals with essential tremor (ET)...
  36. ncbi request reprint The effect of tau genotype on clinical features in FTDP-17
    Yasuhiko Baba
    Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 11:205-8. 2005
    ..7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17...
  37. ncbi request reprint Phenotypic commonalities in familial and sporadic Parkinson disease
    Yasuhiko Baba
    Department of Neurology and Section of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Arch Neurol 63:579-83. 2006
    ..Parkinson disease (PD) is a clinically well-documented neurodegenerative disorder. However, the mechanism or mechanisms of its phenotypic expressions are still unknown...
  38. pmc Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations
    Jennifer Kachergus
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Am J Hum Genet 76:672-80. 2005
    ..Our work highlights the fact that a proportion of clinically typical, late-onset PD cases have a genetic basis...
  39. pmc Phactr2 and Parkinson's disease
    Christian Wider
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Neurosci Lett 453:9-11. 2009
    ..15, P=0.27). When combining all four series the observed trend was statistically significant (OR: 1.30, P<0.001). This study shows that reappraisal of publicly available results of GWAS may help nominate new risk factors for PD...
  40. pmc Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder
    B F Boeve
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Sleep Med 14:754-62. 2013
    ..To determine the pathologic substrates in patients with rapid eye movement (REM) sleep behavior disorder (RBD) with or without a coexisting neurologic disorder...
  41. pmc Essential tremor: predictors of disease progression in a clinical cohort
    J D Putzke
    Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    J Neurol Neurosurg Psychiatry 77:1235-7. 2006
    ..To examine the utility of baseline factors to predict disease progression among a clinical cohort of patients diagnosed with essential tremor...
  42. ncbi request reprint Tau pathology in the olfactory bulb correlates with Braak stage, Lewy body pathology and apolipoprotein epsilon4
    Y Tsuboi
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neuropathol Appl Neurobiol 29:503-10. 2003
    ....
  43. pmc Bilateral thalamic deep brain stimulation: midline tremor control
    J D Putzke
    Department of Neurology, Mayo Clinic Jacksonville, FL 32224, USA
    J Neurol Neurosurg Psychiatry 76:684-90. 2005
    ..To determine the efficacy of bilateral deep brain stimulation (DBS) for management of midline tremor (head, voice, tongue, trunk) in patients with essential tremor...
  44. pmc Novel THAP1 sequence variants in primary dystonia
    J Xiao
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Neurology 74:229-38. 2010
    ..Subsequent screening efforts in familial, mainly early-onset, primary dystonia identified additional THAP1 sequence variants in non-Amish subjects...
  45. pmc Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?
    C Wider
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 72:1953-9. 2009
    ..This supports HDLS and POLD being referred collectively as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)...
  46. doi request reprint Progranulin gene mutation with an unusual clinical and neuropathologic presentation
    Christian Wider
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    Mov Disord 23:1168-73. 2008
    ..This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations...
  47. ncbi request reprint Clinical genetics of Parkinson's disease and related disorders
    Christian Wider
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 13:S229-32. 2007
    ..PRKN, PINK1 and DJ1 mutations cause early-onset recessively inherited PD. Autosomal dominant dementia and parkinsonism is caused by mutations in the MAPT gene, and in the most recently discovered PGRN gene...
  48. pmc Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation
    Christian Wider
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Neurodegener Dis 7:175-9. 2010
    ..Patients carrying an LRRK2 mutation display significant variability of clinical and pathologic phenotypes across and within affected families...
  49. pmc Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids
    J A Van Gerpen
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 71:925-9. 2008
    ..To report a new American family with hereditary diffuse leukoencephalopathy with spheroids (HDLS), including serial, presymptomatic and symptomatic, cranial MRIs from the proband...
  50. ncbi request reprint Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)
    Y Tsuboi
    Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 59:1791-3. 2002
    ..A founder effect indicated by a shared disease haplotype was seen only in two Japanese families. The N279K mutation can develop independently in different parts of the world...
  51. ncbi request reprint Early and pre-symptomatic neuropsychological dysfunction in the PPND family with the N279K tau mutation
    T J Ferman
    Department of Psychiatry and Psychology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 9:265-70. 2003
    ..In addition, results suggest that letter fluency may be a sensitive predictor of incipient PPND...
  52. ncbi request reprint Parkinson disease: handedness predicts asymmetry
    R J Uitti
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 64:1925-30. 2005
    ..To determine the proportion of individuals in a clinic-based setting that present with asymmetric Parkinson disease (PD) and identify predictive factors associated with asymmetric symptoms...
  53. ncbi request reprint Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonism
    Z K Wszolek
    Mayo Clinic Jacksonville, Department of Neurology, Jacksonville, Florida 32224, USA
    Acta Neuropathol 103:344-50. 2002
    ..Thus, the clinical and pathological findings in this family with autosomal dominant parkinsonism are similar to those of sporadic Parkinson's disease...
  54. ncbi request reprint Distinctive MRI findings in pallidopontonigral degeneration (PPND)
    Andrew R Frank
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Neurology 68:620-1. 2007
  55. pmc Elucidating the genetics and pathology of Perry syndrome
    Christian Wider
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    J Neurol Sci 289:149-54. 2010
    ..Further studies will examine reasons for the vulnerability of selected neuronal populations in Perry syndrome, and the link between the genetic defect and TDP-43 pathology...
  56. ncbi request reprint [Japanese contribution to the understanding of frontotemporal dementia and parkinsonism linked to chromosome 17(FTDP-17)]
    Yoshio Tsuboi
    Mayo Clinic Jacksonville, Department of Neurology, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
    No To Shinkei 55:107-19. 2003
    ..It is hoped that future studies of these families will also lead to finding the curative treatments for the tauopathies...
  57. pmc Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
    Nicola J Rutherford
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America
    PLoS Genet 4:e1000193. 2008
    ....
  58. pmc Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor
    Brett H Keeling
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 16:112-4. 2010
    ....
  59. ncbi request reprint Hereditary tauopathies and parkinsonism
    Zbigniew K Wszolek
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    Adv Neurol 91:153-63. 2003
  60. ncbi request reprint Progressive supranuclear palsy: phenotypic sex differences in a clinical cohort
    Yasuhiko Baba
    Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA
    Mov Disord 21:689-92. 2006
    ..In general, the disease phenotype was similar between men and women, suggesting that sex may have little or no influence on the development, expression, or progression of the PSP phenotype...
  61. ncbi request reprint Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis
    A J Whittle
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA
    J Neural Transm 114:327-9. 2007
    ..However we can not rule out other genetic variation at the LRRK2 locus may play a role in parkinsonian disorders with amyotrophic lateral sclerosis and may be considered candidates for genetic screening...
  62. ncbi request reprint Thalamic deep brain stimulation for tremor-predominant Parkinson's disease
    J D Putzke
    Department of Neurology, Davis Bldg E 8, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 10:81-8. 2003
    ..Design. Longitudinal, unblinded assessment of tremor and activities of daily living (ADL) at baseline (pre-surgical), and post-operative intervals of 1, 3, and 12 months, and annually thereafter up to 3 years...
  63. ncbi request reprint Japanese family with parkinsonism, depression, weight loss, and central hypoventilation
    Y Tsuboi
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 58:1025-30. 2002
    ..The authors describe the clinical and pathologic characteristics of the Fukuoka 1 family, the first Japanese family recognized to have hereditary parkinsonism associated with depression, weight loss, and central alveolar hypoventilation...
  64. ncbi request reprint Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration
    Z K Wszolek
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    Mov Disord 16:756-60. 2001
    ....
  65. ncbi request reprint Effect of MAPT and APOE on prognosis of progressive supranuclear palsy
    Yasuhiko Baba
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 405:116-9. 2006
    ..These results support the assertion that the H1/H1 genotype may contribute to the earlier occurrence of clinical symptoms...
  66. ncbi request reprint Body mass index is reduced early in Parkinson's disease
    William P Cheshire
    Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 11:35-8. 2005
    ..These results suggest that alterations in nutrient intake or metabolism could reflect early changes in the central autonomic network preceding the emergence of classical extrapyramidal manifestations of PD...
  67. ncbi request reprint Defining the Parkinson's disease phenotype: initial symptoms and baseline characteristics in a clinical cohort
    Ryan J Uitti
    Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Cannaday Bldg E 2, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 11:139-45. 2005
    ....
  68. pmc GCH1 expression in human cerebellum from healthy individuals is not gender dependent
    Christian Wider
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 462:73-5. 2009
    ....
  69. pmc DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease
    Brett H Keeling
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 461:74-5. 2009
    ..Statistical analysis failed to identify significant differences in the frequency of these variants between the case and control groups; therefore our results do not support a role for these DRD3 and HS1BP3 variants in PD...
  70. pmc DCTN1 mutations in Perry syndrome
    Matthew J Farrer
    Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA
    Nat Genet 41:163-5. 2009
    ..Our findings show that DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders...
  71. pmc FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression
    Christian Wider
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Mov Disord 24:455-9. 2009
    ..We found no evidence of association between FGF20 variability and PD risk, and no relationship between the rs12720208 genotype, FGF20 and alpha-synuclein protein levels...
  72. pmc Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 14:544-7. 2008
    ..We observed a modest association between DBH -1021C>T and AAO in the combined series (p=0.01). Taken together, these findings indicate that DBH -1021C>T does not play a major role in the pathogenesis of Parkinson's disease...
  73. pmc Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
    Rosa Rademakers
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL FL 32224, USA
    Hum Mol Genet 17:3631-42. 2008
    ..Translational regulation by miRNAs may represent a common mechanism underlying complex neurodegenerative disorders...
  74. pmc Genetic variation of Omi/HtrA2 and Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, United States
    Parkinsonism Relat Disord 14:539-43. 2008
    ..Taken together our results do not support a role for Omi/HtrA2 variants in the pathogenesis of Parkinson's disease...
  75. ncbi request reprint Absence of rapid eye movement sleep behavior disorder in 11 members of the pallidopontonigral degeneration kindred
    Bradley F Boeve
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Arch Neurol 63:268-72. 2006
    ..There are no reports on the possible association of rapid eye movement sleep without atonia and RBD with any familial tauopathy...
  76. ncbi request reprint Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review
    Christian Wider
    Department of Neurology, Mayo Clinic College of Medicine, Cannaday Building 2E, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 14:1-7. 2008
    ..Neuropathology shows severe neuronal loss in the substantia nigra, less prominent neuronal loss in the locus coeruleus, and no or few Lewy bodies. In this review, we also propose diagnostic criteria for this condition...
  77. pmc Fine-mapping and candidate gene investigation within the PARK10 locus
    Kristoffer Haugarvoll
    Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Eur J Hum Genet 17:336-43. 2009
    ..Our data indicate that genetic variability in USP24 is associated with PD. Although our work extends and confirms a previous report, the observed effect size does not explain the PARK10 linkage peak...
  78. ncbi request reprint Pharmacologic management of seizures in organ transplant
    David R Chabolla
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 67:S34-8. 2006
    ..Other, newer agents are not subject to this interaction, and further studies are needed to define their role in the management of seizures in transplant patients...
  79. ncbi request reprint Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease
    Julie P Taylor
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurogenetics 8:95-102. 2007
    ..Comparison of evolutionary interspecies sequences of LRRK1 and LRRK2 suggests they diverged from a common founder gene...
  80. ncbi request reprint ELAVL4, PARK10, and the Celts
    Kristoffer Haugarvoll
    Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA
    Mov Disord 22:585-7. 2007
    ..Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect...
  81. ncbi request reprint Essential tremor: phenotypic expression in a clinical cohort
    N R Whaley
    Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32225, USA
    Parkinsonism Relat Disord 13:333-9. 2007
    ..Examine the characteristics of an essential tremor (ET) clinical cohort including base-rate variability of several commonly accepted diagnostic criteria...
  82. ncbi request reprint Myoclonus in pallido-ponto-nigral degeneration
    John N Caviness
    Department of Neurology, Mayo Clinic Scottsdale, Scottsdale, Arizona, USA
    Adv Neurol 89:35-9. 2002
  83. pmc LINGO1 rs9652490 is associated with essential tremor and Parkinson disease
    Carles Vilariño-Güell
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 16:109-11. 2010
    ..Our study demonstrates a significant association between LINGO1 rs9652490 and essential tremor (P = 0.014) and Parkinson disease (P = 0.0003), thus providing the first evidence of a genetic link between both diseases...
  84. ncbi request reprint Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17
    William P Cheshire
    Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224, USA
    Auton Neurosci 102:71-7. 2002
    ..The degree of autonomic dysfunction correlated significantly with disease duration and with indices of disease severity. In conclusion, there is evidence in PPND of a disturbance in the central autonomic network...
  85. ncbi request reprint Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation
    John N Caviness
    Department of Neurology, Parkinson s Disease and Movement Disorders Center, Mayo Clinic Scottsdale, 13400 East Shea Boulevard, Scottsdale, AZ 85259, USA
    Parkinsonism Relat Disord 9:151-7. 2003
    ..Electrophysiology yielded remarkable findings in those asymptomatic at-risk individuals that carried the N279K tau mutation...
  86. ncbi request reprint Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 13:386-8. 2007
    ..These data do not support a role for this common variant in PD etiology...
  87. ncbi request reprint [Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): clinical criteria]
    Zbigniew K Wszolek
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    Neurol Neurochir Pol 37:173-84. 2003
    ..Undoubtedly further research into the FTDP-17 will contribute to the development of a successful treatment for these devastating degenerative diseases of the c.n.s...
  88. pmc LRRK2 variation and Parkinson's disease in African Americans
    Owen A Ross
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
    Mov Disord 25:1973-6. 2010
    ..Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted...
  89. doi request reprint Clinical implications of gene discovery in Parkinson's disease and parkinsonism
    Christian Wider
    Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA
    Mov Disord 25:S15-20. 2010
    ..In addition, clinical treatment of PD remains largely unaltered by the results of genetic testing...
  90. ncbi request reprint Is the neuropathological 'gold standard' diagnosis dead? Implications of clinicopathological findings in an autosomal dominant neurodegenerative disorder
    Ryan J Uitti
    Department of Neurology and the Section of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 10:461-3. 2004
    ..We conclude that in certain circumstances genetic studies may provide definitive arbitration of validity of clinical and pathological diagnostic criteria...
  91. ncbi request reprint Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)
    J R M Oliveira
    Neurogenetics Program, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 1769, USA
    Neurology 63:2165-7. 2004
    ..The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC...
  92. pmc Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5
    C Wider
    Department of Neurology, Cannaday Building 2E, Mayo Clinic, San Pablo Road 4500, Jacksonville, FL 32246, USA
    Neurology 70:1377-83. 2008
    ..To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD)...
  93. doi request reprint Medications used to treat Parkinson's disease and the risk of gambling
    A Imamura
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Eur J Neurol 15:350-4. 2008
    ..9). Patients with PD who newly developed gambling behavior were more likely to have been taking Pramipexole than other anti-PD medication. However, the association between Pramipexole and gambling behavior is not necessarily etiologic...
  94. ncbi request reprint A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease
    H L Melrose
    Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neuroscience 147:1047-58. 2007
    ..A role for Lrrk2 in neurogenesis might provide further insight into the aberrant role of mutant protein in age-associated neurodegeneration with pleomorphic pathology...
  95. ncbi request reprint MR imaging of brainstem atrophy in progressive supranuclear palsy
    Jerzy Slowinski
    Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, United States
    J Neurol 255:37-44. 2008
    ..To enhance the sensitivity and specificity of the clinical diagnosis of progressive supranuclear palsy (PSP), neuroradiological parameters established in pathologically proven cases are needed...
  96. ncbi request reprint Parkinsonism, FXTAS, and FMR1 premutations
    Mathias Toft
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
    Mov Disord 20:230-3. 2005
    ..Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study...
  97. pmc Depression in Parkinson's disease
    Barbara Jasinska-Myga
    Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA
    Can J Neurol Sci 37:61-6. 2010
    ..To examine predictive factors associated with onset of depression among individuals diagnosed with Parkinson's disease (PD)...
  98. ncbi request reprint Lrrk2 pathogenic substitutions in Parkinson's disease
    Ignacio F Mata
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurogenetics 6:171-7. 2005
    ..Seven of these coding changes seem to be pathogenic, as they segregate with disease and were not identified within controls. No multiplications or deletions were identified...
  99. ncbi request reprint The genetics of frontotemporal dementia
    Kristoffer Haugarvoll
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurol Clin 25:697-715, vi. 2007
    ..The clinical and neuropathologic features of frontotemporal dementia with parkinsonism linked to chromosome 17 and the nature of the mutations in the progranulin and microtubule-associated protein tau genes are emphasized...
  100. pmc De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis
    Mariely DeJesus-Hernandez
    Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Hum Mutat 31:E1377-89. 2010
    ..S402_P411delinsGGGG) which is predicted to expand a conserved poly-glycine motif. Our findings extend the mutation spectrum in FUS leading to ALS and describe the first de novo mutation in FUS...
  101. pmc Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms
    Stacey Melquist
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Am J Hum Genet 80:769-78. 2007
    ..Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, both genes are viable candidates for conferring risk of disease...