Research Topics
Genomes and GenesSpecies | Irene LitvanSummaryAffiliation: University of Louisville Country: USA Publications
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Publications
Update of atypical Parkinsonian disordersIrene Litvan
Department of Neurology, University of Louisville, Louisville, Kentucky 40202, USA
Curr Opin Neurol 20:434-7. 2007..This timely update discusses novel diagnostic approaches, recently identified genes, and innovative experimental symptomatic treatments for these devastating disorders...- The etiopathogenesis of Parkinson disease and suggestions for future research. Part IIIrene Litvan
University of Louisville School of Medicine, Louisville, Kentucky 40202, USA
J Neuropathol Exp Neurol 66:329-36. 2007..Topics reviewed in Part II are genetics, animal models, and oxidative stress... 
H1/H1 genotype influences symptom severity in corticobasal syndromeIrene Litvan
Division of Movement Disorders, Department of Neurology, University of Louisville, Louisville, Kentucky 40202, USA
Mov Disord 25:760-3. 2010..ApoE inheritance did not influence cognition...
MDS Task Force on mild cognitive impairment in Parkinson's disease: critical review of PD-MCIIrene Litvan
Division of Movement Disorders, Department of Neurology, University of Louisville, Louisville, Kentucky, USA
Mov Disord 26:1814-24. 2011....- Update on progressive supranuclear palsyIrene Litvan
Movement Disorder Program, Department of Neurology, University of Louisville School of Medicine, A Building, Room 113, 500 South Preston Street, Louisville, KY 40202, USA
Curr Neurol Neurosci Rep 4:296-302. 2004..These advances are explained in detail in this review... - Update on epidemiological aspects of progressive supranuclear palsyIrene Litvan
Movement Disorder Program, University of Louisville School of Medicine, Louisville, Kentucky, USA
Mov Disord 18:S43-50. 2003..The possible role of chemicals in the diet or occupation, hypertension, traumatic brain injury, coffee, and inflammation or oxidative injury are reviewed... - Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disordersIrene Litvan
Movement Disorder Program, University of Louisville, KY 40205, USA
Mov Disord 18:467-86. 2003..In each of these areas, diagnosis continues to rest on clinical findings and the judicious use of ancillary studies... - The etiopathogenesis of Parkinson disease and suggestions for future research. Part IIrene Litvan
University of Louisville School of Medicine, Louisville, Kentucky 40202, USA
J Neuropathol Exp Neurol 66:251-7. 2007 - The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD studyJeanne C Latourelle
Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA
BMC Med 6:32. 2008..Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD... - Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelinesIrene Litvan
Division of Movement Disorders, Department of Neurology, University of Louisville, Louisville, Kentucky, USA
Mov Disord 27:349-56. 2012.... - Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutationJoseph M Ferrara
Division of Movement Disorders, Department of Neurology, University of Louisville, Louisville, Kentucky, USA
J Child Neurol 27:68-73. 2012..The unusual therapeutic response seen in our patients and others may help elucidate how disease-related migratory deficits affect neural pathways associated with motor control... - Parkinsonism and frontotemporal dementia: the clinical overlapAlberto J Espay
Department of Neurology, Movement Disorders Center, UC Neuroscience Institute, University of Cincinnati, Cincinnati, OH, USA
J Mol Neurosci 45:343-9. 2011..This gap is critical to bridge in order to allow testing of novel biological therapies that may slow the progression of these proteinopathies... - Cognitive and neuropsychiatric effects of subthalamotomy for Parkinson's diseaseScott Bickel
Division of Movement Disorders, Department of Neurology, University of Louisville School of Medicine, Frazier Rehab Neuroscience Institute, 220 Abraham Flexner Way, Ste 1503, Louisville, KY 40202, USA
Parkinsonism Relat Disord 16:535-9. 2010..The results of this proof-of-concept pilot study suggest the need for larger, long-term, randomized controlled studies to assess motor, neuropsychiatric, behavioral and radiologic correlations after subthalamotomies... - Functional impairment in progressive supranuclear palsyKevin Duff
From the Department of Neurology K D, University of Utah, Salt Lake City Department of Psychological and Brain Sciences A G, University of Louisville, Louisville, KY and Department of Neurosciences I L, University of California San Diego, La Jolla
Neurology 80:380-4. 2013..The current study sought to describe the functional profiles of patients with early-stage progressive supranuclear palsy (PSP) in a large prospective, multisite study... - Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control studyLisa F Potts
Department of Anatomical Sciences and Neurobiology, University of Louisville, KY, USA
BMC Med Genet 13:16. 2012.... - Alzheimer's disease presenting as corticobasal syndromePratap Chand
Department of Neurology, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA
Mov Disord 21:2018-22. 2006..The videotaped clinical features, neuropsychological aspects, and neuropathological correlates are presented and discussed... - Executive dysfunction is the primary cognitive impairment in progressive supranuclear palsyAdam Gerstenecker
Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY 40292 USA
Arch Clin Neuropsychol 28:104-13. 2013..These results have important clinical implications for providers following patients with PSP... - Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron diseaseAlberto J Espay
Department of Neurology, Movement Disorders Center, The Neuroscience Institute, University of Cincinnati, Cincinnati, Ohio, USA
J Neurol Neurosurg Psychiatry 82:751-3. 2011..To report the rare but distinct clinical and neuropathological phenotype of non-familial, rapidly progressive parkinsonism and dementia associated with frontotemporal lobar degeneration with motor neuron disease (FTLD-MND)... - Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD studyChristopher F McNicoll
Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA
Mov Disord 23:1596-601. 2008..No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD... - Unraveling progressive supranuclear palsy: from the bedside back to the benchDavid J Houghton
Division of Movement Disorders, Department of Neurology, University of Louisville, Louisville, KY, USA
Parkinsonism Relat Disord 13:S341-6. 2007..31 to be associated with PSP, while the H2 haplotype seems protective. With greater knowledge of the molecular and genetic aspects of PSP, we can expect future diagnostic and therapeutic challenges to be more effectively met... - Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementiaBradley F Boeve
Division of Behavioral Neurology, Department of Neurology, and Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN 55905, USA
Ann Neurol 54:S15-9. 2003 - Cytokine expression and microglial activation in progressive supranuclear palsyRafael Fernandez-Botran
Department of Pathology and Laboratory Medicine, School of Medicine, University of Louisville, Louisville, KY 40292, USA
Parkinsonism Relat Disord 17:683-8. 2011..If so, the use of cytokine-inhibitors and/or other anti-inflammatory agents may be able to slow disease progression in PSP... - A recommended scale for cognitive screening in clinical trials of Parkinson's diseaseKelvin L Chou
Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109 5316, USA
Mov Disord 25:2501-7. 2010..Widespread adoption of a single instrument such as the MoCA in clinical trials can improve comparability between research studies on PD... - Magnetic resonance imaging-based volumetry differentiates progressive supranuclear palsy from corticobasal degenerationKlaus Gröschel
Department of General Neurology, and Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany
Neuroimage 21:714-24. 2004..3D-MR imaging-based volumetry may help to differentiate PSP from CBD ante mortem... - Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndromeYoshio Tsuboi
Department of Neurology, Fukoka University, Fukoka, Japan
Mov Disord 20:982-8. 2005.... - High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsyRosa Rademakers
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium
Hum Mol Genet 14:3281-92. 2005..Thus, risk variants on different H1 htSNP haplotypes and protective variants on H2 contribute to population risk for PSP... - Freezing of gait in postmortem-confirmed atypical parkinsonismJörg Müller
Department of Neurology, University Hospital Innsbruck, Austria
Mov Disord 17:1041-5. 2002..Whether FoG and urinary incontinence share similar neuropathological substrates remains to be determined by future studies... - Lrrk2 and Lewy body diseaseOwen A Ross
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Ann Neurol 59:388-93. 2006..The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease... - Penguins and hummingbirds: midbrain atrophy in progressive supranuclear palsyKlaus Gröschel
Department of Neurology, University of Jena, Gottingen, Germany
Neurology 66:949-50. 2006 - Replication of association between ELAVL4 and Parkinson disease: the GenePD studyAnita L Destefano
Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Crosstown Center, 3rd Floor, Boston, MA 02118, USA
Hum Genet 124:95-9. 2008..This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene... - Diagnostic procedures for Parkinson's disease dementia: recommendations from the movement disorder society task forceBruno Dubois
INSERM UPMC UMRS 610, Federation of Neurology, AP HP, Salpêtrière Hospital Université Paris6, Paris, France
Mov Disord 22:2314-24. 2007..We accept, however, that further validation of certain tests and modifications in the recommended cut off values will be required through future studies... - Progression of gait, speech and swallowing deficits in progressive supranuclear palsyChristopher G Goetz
Department of Neurological Sciences, Rush University Rush Presbyterian St Luke s Medical Center, Chicago, IL, USA
Neurology 60:917-22. 2003..To identify outcome measures for clinical trials in progressive supranuclear palsy (PSP), the authors determined the time to key motor impairments in a well-defined patient cohort... - Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD studyMei Sun
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA
Arch Neurol 63:826-32. 2006..The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD)... - Clinical diagnostic criteria for dementia associated with Parkinson's diseaseMurat Emre
Department of Neurology, Behavioral Neurology and Movement Disorders Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Mov Disord 22:1689-707; quiz 1837. 2007..Based on the characteristic features associated with this condition, clinical diagnostic criteria for probable and possible PD-D are proposed... - Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphismsStacey 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...
Research Grants
- Genetic and Environmental Risk Factors for PSPIrene Litvan; Fiscal Year: 2007..The use of the NINDS cell repository for genetic banking will also allow DNA sample sharing with other investigators. ..
- Genetic and Environmental Risk Factors for PSPIrene Litvan; Fiscal Year: 2009..The use of the NINDS cell repository for genetic banking will also allow DNA sample sharing with other investigators. ..
- Genetic and Environmental Risk Factors for PSPIrene Litvan; Fiscal Year: 2010..The use of the NINDS cell repository for genetic banking will also allow DNA sample sharing with other investigators. ..