Keith A Josephs

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. pmc Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech
    Keith A Josephs
    Department of Neurology, Division of Movement Disorders and Behavioral Neurology, Mayo Clinic, Rochester, MN 55905
    Brain 129:1385-98. 2006
  2. pmc Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Brain 135:794-806. 2012
  3. 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
  4. pmc Beta-amyloid burden is not associated with rates of brain atrophy
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 63:204-12. 2008
  5. pmc Predicting functional decline in behavioural variant frontotemporal dementia
    Keith A Josephs
    Department of Neurology Behavioural Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Brain 134:432-48. 2011
  6. pmc Rates of cerebral atrophy differ in different degenerative pathologies
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic Rochester, Rochester, MN 55905, USA
    Brain 130:1148-58. 2007
  7. pmc Rates of brain atrophy over time in autopsy-proven frontotemporal dementia and Alzheimer disease
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neuroimage 39:1034-40. 2008
  8. pmc Distinct regional anatomic and functional correlates of neurodegenerative apraxia of speech and aphasia: an MRI and FDG-PET study
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Brain Lang 125:245-52. 2013
  9. pmc Temporoparietal atrophy: a marker of AD pathology independent of clinical diagnosis
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN, United States
    Neurobiol Aging 32:1531-41. 2011
  10. ncbi request reprint Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron disease
    Keith A Josephs
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Arch Neurol 63:506-12. 2006

Detail Information

Publications118 found, 100 shown here

  1. pmc Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech
    Keith A Josephs
    Department of Neurology, Division of Movement Disorders and Behavioral Neurology, Mayo Clinic, Rochester, MN 55905
    Brain 129:1385-98. 2006
    ..Refining the classification of the degenerative aphasias and AOS may be necessary to improve our understanding of the relationships among behavioural, pathological and imaging correlations...
  2. pmc Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Brain 135:794-806. 2012
    ..Our analysis suggested that imaging has the potential to be useful to help differentiate C9ORF72 from these other groups at the single-subject level...
  3. 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...
  4. pmc Beta-amyloid burden is not associated with rates of brain atrophy
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 63:204-12. 2008
    ..To test the hypothesis that beta-amyloid (Abeta) burden is associated with rates of brain atrophy...
  5. pmc Predicting functional decline in behavioural variant frontotemporal dementia
    Keith A Josephs
    Department of Neurology Behavioural Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Brain 134:432-48. 2011
    ....
  6. pmc Rates of cerebral atrophy differ in different degenerative pathologies
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic Rochester, Rochester, MN 55905, USA
    Brain 130:1148-58. 2007
    ....
  7. pmc Rates of brain atrophy over time in autopsy-proven frontotemporal dementia and Alzheimer disease
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neuroimage 39:1034-40. 2008
    ..The trajectories of brain and ventricular changes were similar in AD and FTLD-U suggesting that it is independent of pathology, although subjects with FTLD-U show a more rapidly progressive decline...
  8. pmc Distinct regional anatomic and functional correlates of neurodegenerative apraxia of speech and aphasia: an MRI and FDG-PET study
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Brain Lang 125:245-52. 2013
    ..Progressive agrammatic aphasia and AOS have non-overlapping regional correlations, suggesting that these are dissociable clinical features that have different neuroanatomical underpinnings...
  9. pmc Temporoparietal atrophy: a marker of AD pathology independent of clinical diagnosis
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN, United States
    Neurobiol Aging 32:1531-41. 2011
    ..Temporoparietal atrophy may therefore provide a useful marker of the presence of AD pathology even in subjects with atypical clinical presentations, especially in the context of relative sparing of the hippocampus...
  10. ncbi request reprint Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron disease
    Keith A Josephs
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Arch Neurol 63:506-12. 2006
    ..The ability to detect the clinical signs of dementia and motor neuron disease in pathologically confirmed FTLD-MND has not been assessed...
  11. pmc Rapidly progressive neurodegenerative dementias
    Keith A Josephs
    Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Arch Neurol 66:201-7. 2009
    ..Neurodegenerative dementias are typically characterized by an insidious onset and a relatively slowly progressive course. Less common are patients with a rapidly progressive course to death...
  12. pmc Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Mov Disord 25:1246-52. 2010
    ..In subjects presenting with CBS, prominent temporoparietal, especially posterior temporal and inferior parietal, atrophy may be a clue to the presence of underlying AD pathology...
  13. pmc Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations
    Jennifer L Whitwell
    Division of Behavioral Neurology, Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Arch Neurol 64:371-6. 2007
    ..Mutations in the progranulin gene (PGRN) have recently been identified as a cause of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) in some families...
  14. pmc Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia: a cluster analysis study
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Brain 132:2932-46. 2009
    ..Our findings suggest behavioural variant of frontotemporal dementia can therefore be subdivided into four different anatomical subtypes...
  15. pmc Elevated occipital β-amyloid deposition is associated with widespread cognitive impairment in logopenic progressive aphasia
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA
    J Neurol Neurosurg Psychiatry 84:1357-64. 2013
    ....
  16. pmc Syndromes dominated by apraxia of speech show distinct characteristics from agrammatic PPA
    Keith A Josephs
    Department of Neurology Behavioral Neurology, Mayo Clinic, Rochester, MN, USA
    Neurology 81:337-45. 2013
    ..We assessed whether clinical and imaging features of subjects with apraxia of speech (AOS) more severe than aphasia (dominant AOS) are more similar to agrammatic primary progressive aphasia (agPPA) or to primary progressive AOS (PPAOS)...
  17. pmc Characterizing a neurodegenerative syndrome: primary progressive apraxia of speech
    Keith A Josephs
    Behavioural Neurology and Movement Disorders, Mayo Clinic, 200 1st Street S W, Rochester, MN 55905, USA
    Brain 135:1522-36. 2012
    ..A syndrome characterized by progressive pure apraxia of speech clearly exists, with a neuroanatomic correlate of superior lateral premotor and supplementary motor atrophy, making this syndrome distinct from primary progressive aphasia...
  18. pmc Focal atrophy in dementia with Lewy bodies on MRI: a distinct pattern from Alzheimer's disease
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Brain 130:708-19. 2007
    ..Damage to this network of structures in DLB may affect a number of different neurotransmitter systems which in turn may contribute to a number of the core clinical features of DLB...
  19. pmc Prominent phenotypic variability associated with mutations in Progranulin
    Brendan J Kelley
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurobiol Aging 30:739-51. 2009
    ..Some kindreds with PGRN mutations exhibited lateralized topography of degeneration across all affected individuals...
  20. pmc Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations
    Christina Sundal
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 19:869-77. 2013
    ..Out of 50 patients, 37 had gait impairments, 8 rigidity, 7 bradykinesia, and 5 resting tremor. Our report emphasizes the presence of atypical Parkinsonism in HDLS due to CSF1R mutations. ..
  21. pmc Limb immobilization and corticobasal syndrome
    Jonathan Graff-Radford
    Department of Neurology, Behavioral Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Parkinsonism Relat Disord 18:1097-9. 2012
    ..Recently, we evaluated two patients with corticobasal syndrome (CBS) who reported symptom onset after limb immobilization. Our objective was to investigate the association between trauma, immobilization and CBS...
  22. pmc Voxel-based morphometry in autopsy proven PSP and CBD
    Keith A Josephs
    Department of Neurology Movement Disorders, Mayo Clinic, Rochester, MN 55905, USA
    Neurobiol Aging 29:280-9. 2008
    ..These results show regional differences between PSP and CBD that are useful in predicting the underlying pathology, and help to shed light on the in vivo distribution of regional atrophy in PSP and CBD...
  23. pmc Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia
    Keith A Josephs
    Behavioural Neurology, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Brain 136:455-70. 2013
    ....
  24. pmc Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
    Bradley F Boeve
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Brain 135:765-83. 2012
    ..While variability exists, most cases with this mutation have a characteristic spectrum of demographic, clinical, neuropsychological, neuroimaging and especially neuropathological findings...
  25. doi request reprint Psychogenic tremor: long-term prognosis in patients with electrophysiologically confirmed disease
    Andrew McKeon
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Mov Disord 24:72-6. 2009
    ..037). Physiologically-confirmed psychogenic tremor carries a poor prognosis, with unremitting or worse tremor persisting 3-years after diagnosis in most...
  26. pmc Alzheimer disease: postmortem neuropathologic correlates of antemortem 1H MR spectroscopy metabolite measurements
    Kejal Kantarci
    Departments of Radiology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Radiology 248:210-20. 2008
    ..To determine the neuropathologic correlates of antemortem hydrogen 1 ((1)H) magnetic resonance (MR) spectroscopy metabolite measurements in subjects with Alzheimer disease (AD)-type pathology...
  27. pmc Antemortem MRI based STructural Abnormality iNDex (STAND)-scores correlate with postmortem Braak neurofibrillary tangle stage
    Prashanthi Vemuri
    Department of Radiology, Mayo Clinic Rochester, Rochester, MN 55905, USA
    Neuroimage 42:559-67. 2008
    ....
  28. pmc Antemortem differential diagnosis of dementia pathology using structural MRI: Differential-STAND
    Prashanthi Vemuri
    Department of Radiology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Neuroimage 55:522-31. 2011
    ..8%). The proposed approach establishes a direct a priori relationship between specific topographic patterns on MRI and "gold standard" of pathology which can then be used to predict underlying dementia pathology in new incoming patients...
  29. ncbi request reprint Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    J Neuropathol Exp Neurol 66:142-51. 2007
    ..On the other hand, there is no histopathologic feature or combination of features that is pathognomonic. Neuronal intranuclear inclusions are virtually always present, but they can be detected in PGRN(-) cases...
  30. pmc Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neurobiol Aging 34:636-9. 2013
    ..These findings therefore suggest that neuroanatomical patterns of frontal lobe atrophy in bvFTD are influenced by specific gene mutations...
  31. doi request reprint Fluorodeoxyglucose F18 positron emission tomography in progressive apraxia of speech and primary progressive aphasia variants
    Keith A Josephs
    Department of Neurology, Division of Behavioral Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Arch Neurol 67:596-605. 2010
    ....
  32. ncbi request reprint Alzheimer's disease and corticobasal degeneration presenting as corticobasal syndrome
    William T Hu
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Mov Disord 24:1375-9. 2009
    ..AD patients with clinical CBS have similar characteristics to CBD patients. Functional brain imaging may have greater utility than the clinical and neuropsychological features in differentiating AD presenting as CBS from CBD...
  33. pmc Temporal lobar predominance of TDP-43 neuronal cytoplasmic inclusions in Alzheimer disease
    William T Hu
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Acta Neuropathol 116:215-20. 2008
    ..The distribution of the lesions in this cross-sectional analysis may suggest a progression of TDP-43 pathology in AD, with limbic structures in the medial temporal lobe affected first, followed by higher order association cortices...
  34. 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...
  35. ncbi request reprint Clinical features and survival of 3R and 4R tauopathies presenting as behavioral variant frontotemporal dementia
    William T Hu
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Alzheimer Dis Assoc Disord 21:S39-43. 2007
    ..In summary, survival in 4R tauopathies seemed independent of the presenting clinical phenotype, and there may be subtle clinical differences between bv-FTD patients with 3R and 4R tauopathies...
  36. pmc Incidental Lewy body disease: do some cases represent a preclinical stage of dementia with Lewy bodies?
    Roberta Frigerio
    Department of Neurology, Mayo Clinic, Rochester, MN, United States
    Neurobiol Aging 32:857-63. 2011
    ....
  37. pmc Argyrophilic grains: a distinct disease or an additive pathology?
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurobiol Aging 29:566-73. 2008
    ..Argyrophilic grains (AG) are silver-positive spindle-shaped lesions found at postmortem. Their significance is controversial...
  38. pmc Visual hallucinations in posterior cortical atrophy
    Keith A Josephs
    Divisions of Movement Disorders and Behavioral Neurology, Department of Neurology, Mayo Clinic, Rochester, Minn, USA
    Arch Neurol 63:1427-32. 2006
    ..It is not known, however, whether patients who meet the criteria for PCA and have hallucinations are different from those who meet the criteria and do not have hallucinations...
  39. ncbi request reprint Apolipoprotein E epsilon 4 is a determinant for Alzheimer-type pathologic features in tauopathies, synucleinopathies, and frontotemporal degeneration
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Arch Neurol 61:1579-84. 2004
    ....
  40. pmc FDG PET and MRI in logopenic primary progressive aphasia versus dementia of the Alzheimer's type
    Ajay Madhavan
    Department of Radiology, Mayo Clinic, Rochester, Minnesota, United States of America
    PLoS ONE 8:e62471. 2013
    ....
  41. doi request reprint Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion
    Elizabeth A Coon
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Amyotroph Lateral Scler Frontotemporal Degener 14:132-7. 2013
    ..In conclusion, this kindred demonstrates that the presentation of ALS within c9FTD/ALS families may vary considerably and electrophysiologic findings reflect this heterogeneity...
  42. pmc Neuroimaging correlates of pathologically defined subtypes of Alzheimer's disease: a case-control study
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Lancet Neurol 11:868-77. 2012
    ..We aimed to determine whether MRI patterns of atrophy differ between these subtypes and whether structural neuroimaging could be a useful predictor of pathological subtype at autopsy...
  43. pmc Symmetric corticobasal degeneration (S-CBD)
    Anhar Hassan
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Parkinsonism Relat Disord 16:208-14. 2010
    ..Asymmetry is also emphasized on neuroimaging...
  44. doi request reprint Frontotemporal dementia mimicking dementia with Lewy bodies
    Daniel O Claassen
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Cogn Behav Neurol 21:157-63. 2008
    ..Clinicopathologic studies are helpful in understanding the underlying neurodegenerative process in such cases...
  45. pmc Imaging correlates of posterior cortical atrophy
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neurobiol Aging 28:1051-61. 2007
    ..1)H MRS suggested loss of neuronal integrity and glial activation in subjects with PCA and typical AD. The differing patterns of atrophy on MRI suggest that PCA should be considered a distinct entity from typical AD...
  46. ncbi request reprint Rates of cerebral atrophy in autopsy-confirmed progressive supranuclear palsy
    Keith A Josephs
    Department of Neurology, Mayo Clinic, 200 First Street NW, Rochester, MN 55905, USA
    Ann Neurol 59:200-3. 2006
    ..To determine the rates of cerebral atrophy and ventricular expansion in six patients with autopsy confirmed progressive supranuclear palsy (PSP) and multiple antemortem volumetric head MRI scans...
  47. pmc Occupational differences between Alzheimer's and aphasic dementias: implication for teachers
    Keith A Josephs
    Department of Neurology Behavioral Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Am J Alzheimers Dis Other Demen 28:612-6. 2013
    ..We identified an association between progressive SLDs and the occupation of teaching. Since teaching is a communication demanding occupation, teachers may be more sensitive to the development of speech and language impairments. ..
  48. pmc Microbleeds in the logopenic variant of primary progressive aphasia
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN, USA Electronic address
    Alzheimers Dement 10:62-6. 2014
    ..We aimed to assess the presence and clinical correlates of microbleeds in lvPPA...
  49. doi request reprint Imaging measures predict progression in progressive supranuclear palsy
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Mov Disord 27:1801-4. 2012
    ..The aim of this work was to determine whether the progressive supranuclear palsy rating scale, a measure of disease severity, is associated with neuroanatomical changes in progressive supranuclear palsy...
  50. doi request reprint Parkinsonism and dropped head: dystonia, myopathy or both?
    Rodolfo Savica
    Department of Neurology, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Parkinsonism Relat Disord 18:30-4. 2012
    ..The substrate for DHS is controversial, with some concluding that the cause is myopathic and others, exclusively dystonic. We report our clinical series of DHS arising in the setting of parkinsonism...
  51. doi request reprint Young-onset dementia: demographic and etiologic characteristics of 235 patients
    Brendan J Kelley
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Arch Neurol 65:1502-8. 2008
    ..Few data exist regarding the demographics characterizing this population or the etiologic diagnoses among those affected...
  52. doi request reprint Frontotemporal dementia and related disorders: deciphering the enigma
    Keith A Josephs
    Department of Neurology, Behavioral Neurology and Movement Disorders, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 64:4-14. 2008
    ..These associations could ultimately allow the identification of appropriate patient phenotypes for future targeted treatments...
  53. ncbi request reprint Frontotemporal lobar degeneration without lobar atrophy
    Keith A Josephs
    Department of Neurology, Division of Behavioral Neurology and Movement Disorders, Mayo Clinic, Rochester, MN 55905, USA
    Arch Neurol 63:1632-8. 2006
    ..Neuronal loss and gliosis in cornu ammonis 1 and the subiculum of the hippocampus are features of hippocampal sclerosis (HpScl), which occurs in many cases of FTLD-U...
  54. pmc Very early semantic dementia with progressive temporal lobe atrophy: an 8-year longitudinal study
    Kathrin Czarnecki
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Arch Neurol 65:1659-63. 2008
    ..Semantic dementia is a syndrome within the spectrum of frontotemporal lobar degenerations characterized by fluent progressive aphasia (particularly anomia) and loss of word meaning...
  55. pmc Comparison of risk factor profiles in incidental Lewy body disease and Parkinson disease
    Roberta Frigerio
    Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55902, USA
    Arch Neurol 66:1114-9. 2009
    ..To explore whether associations of potential risk factors for incidental Lewy body disease (iLBD) are similar to those for Parkinson disease (PD)...
  56. pmc Patterns of atrophy in pathologically confirmed FTLD with and without motor neuron degeneration
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 66:102-4. 2006
    ..Patterns of atrophy were distinct and different from each other. A localized pattern of frontal lobe atrophy was found in FTLD-MND with a more widespread pattern of atrophy affecting the frontal and temporal lobes in FTLD-U...
  57. ncbi request reprint Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study
    Bradley F Boeve
    Department of Neurology, Mayo Clinic Rochester, MN 55905, USA
    Brain 129:3103-14. 2006
    ..These findings suggest that the insR352 PSEN1 is not pathogenic, and the IVS1+1G-->A mutation in PGRN causes FTDP associated with FTLD-U pathology and represents a new class of neurodegenerative disease--the 'hypoprogranulinopathies'...
  58. ncbi request reprint Neurofilament inclusion body disease: a new proteinopathy?
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Brain 126:2291-303. 2003
    ..We propose the term neurofilament inclusion body disease for this entity...
  59. doi request reprint Modeling trajectories of regional volume loss in progressive supranuclear palsy
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Mov Disord 28:1117-24. 2013
    ..Decline is mainly linear but can be nonlinear for some regions. The frontal lobe and midbrain seem to be playing the most significant roles in the progressive worsening of clinical signs in progressive supranuclear palsy...
  60. pmc Focal brain atrophy in gastric bypass patients with cognitive complaints
    Jonathan Graff-Radford
    Department of Neurology Behavioral Neurology, Mayo Clinic, 200 1st Street SW, Rochester, MN 55905, USA
    J Clin Neurosci 18:1671-6. 2011
    ..Patients with cognitive complaints after gastric bypass surgery may have focal thalamic brain atrophy that could result in cognitive impairment...
  61. pmc Disrupted thalamocortical connectivity in PSP: a resting-state fMRI, DTI, and VBM study
    Jennifer L Whitwell
    Department of Radiology, Mayo Clinic, 200 1st Street SW, Rochester, MN 55905, USA
    Parkinsonism Relat Disord 17:599-605. 2011
    ..PSP is therefore associated with disrupted thalamocortical connectivity that is associated with degeneration of the dentatorubrothalamic tract and the presence of cortical atrophy...
  62. pmc Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Acta Neuropathol 118:349-58. 2009
    ..These findings extend previously described clinicopathological associations of FTLD-TDP subtypes and support the notion that FTLD-TDP subtypes may be distinct clinicopathologic disorders...
  63. doi request reprint Apraxia of speech and nonfluent aphasia: a new clinical marker for corticobasal degeneration and progressive supranuclear palsy
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Curr Opin Neurol 21:688-92. 2008
    ..To highlight the fact that patients with corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) can sometimes present with a progressive apraxia of speech, nonfluent aphasia, or a combination of the two disorders...
  64. pmc Dopamine agonists and Othello's syndrome
    Jonathan Graff-Radford
    Department of Neurology, Mayo Clinic, 200 1st Street SW Rochester, MN 55905, USA
    Parkinsonism Relat Disord 16:680-2. 2010
    ..Othello's syndrome (OS) is a delusion of infidelity. We describe seven cases of OS in Parkinson's disease (iPD) patients using dopamine agonists...
  65. ncbi request reprint Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration
    Keith A Josephs
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Arch Neurol 61:1881-4. 2004
    ..Various pathologic findings, including corticobasal degeneration (CBD), progressive supranuclear palsy, and frontotemporal degenerations, underlie CBS...
  66. pmc Autoimmune dementia: clinical course and predictors of immunotherapy response
    Eoin P Flanagan
    Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Mayo Clin Proc 85:881-97. 2010
    ..To define the diagnostic characteristics and predictors of treatment response in patients with suspected autoimmune dementia...
  67. ncbi request reprint Deep brain stimulation in benign tremulous parkinsonism
    Rodolfo Savica
    Department of Neurology, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Arch Neurol 68:1033-6. 2011
    ..This disorder has an uncertain pathophysiologic relationship to idiopathic Parkinson disease. Deep brain stimulation (DBS) should be efficacious for this condition, but there is no previously published experience...
  68. ncbi request reprint APOE E4 is a determinant for Alzheimer type pathology in progressive supranuclear palsy
    Yoshio Tsuboi
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Neurology 60:240-5. 2003
    ..To assess demographic and genetic determinants of Alzheimer type pathology in progressive supranuclear palsy (PSP)...
  69. pmc The alien limb phenomenon
    Jonathan Graff-Radford
    Department of Neurology, Mayo Clinic, 200 1st Street SW, Rochester, MN 55905, USA
    J Neurol 260:1880-8. 2013
    ..004). These findings support the notion that the alien limb phenomenon is partially related to damage underlying the parietal cortex, especially right parietal, disconnecting it from other cortical areas...
  70. pmc Rapidly progressive young-onset dementia
    Brendan J Kelley
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Cogn Behav Neurol 22:22-7. 2009
    ..To characterize a cohort of individuals who have experienced rapidly progressive dementia with onset before age 45...
  71. ncbi request reprint Atypical progressive supranuclear palsy with corticospinal tract degeneration
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    J Neuropathol Exp Neurol 65:396-405. 2006
    ..The clinicopathologic features of these 12 cases expand the spectrum of 4R tauopathies...
  72. pmc Cognitive and noncognitive neurological features of young-onset dementia
    Brendan J Kelley
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Dement Geriatr Cogn Disord 27:564-71. 2009
    ..Limited data exist regarding clinical features associated with dementia prior to the age of 45...
  73. doi request reprint Gray matter correlates of behavioral severity in progressive supranuclear palsy
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Mov Disord 26:493-8. 2011
    ..Behavioral changes occur in progressive supranuclear palsy. This study aimed to identify the anatomic correlate of behavioral severity in progressive supranuclear palsy...
  74. doi request reprint Frontotemporal lobar degeneration with ubiquitin-positive, but TDP-43-negative inclusions
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Acta Neuropathol 116:159-67. 2008
    ..The findings raise the possibly of an as yet identified protein that may play a pathogenic role in tau-negative FTLD...
  75. ncbi request reprint Pathological hypersexuality predominantly linked to adjuvant dopamine agonist therapy in Parkinson's disease and multiple system atrophy
    Kevin J Klos
    Department of Neurology, Division of Movement Disorders, Mayo Clinic, Rochester, MN 55905, USA
    Parkinsonism Relat Disord 11:381-6. 2005
    ..A systematic literature review of pathological hypersexuality in PD revealed similar medication histories; combining these cases with our series, 26 of 29 patients (90%) were on adjuvant dopamine agonists...
  76. pmc Right temporal variant frontotemporal dementia with motor neuron disease
    Elizabeth A Coon
    Department of Neurology, Behavioral Neurology, Mayo Clinic, Rochester, MN 55905, USA
    J Clin Neurosci 19:85-91. 2012
    ..There appears to be an association between FTD-MND and severe right temporal lobe atrophy. Until further characterization of such cases are determined, they may be best classified as right temporal variant FTD-MND...
  77. pmc High school football and risk of neurodegeneration: a community-based study
    Rodolfo Savica
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Mayo Clin Proc 87:335-40. 2012
    ..To assess whether high school football played between 1946 and 1956, when headgear was less protective than today, was associated with development of neurodegenerative diseases later in life...
  78. ncbi request reprint Whole-body tremulousness: isolated generalized polymyoclonus
    Andrew McKeon
    Department of Neurology, Gonda 8 South, Mayo Clinic, 200 First St SW, Rochester, MN 55902, USA
    Arch Neurol 64:1318-22. 2007
    ..Acquired generalized repetitive myoclonus may be mistaken for tremor. Distinguishing myoclonus has etiologic and therapeutic implications...
  79. ncbi request reprint Alpha-synuclein immunohistochemistry in two cases of co-occurring idiopathic Parkinson's disease and motor neuron disease
    Kevin J Klos
    Department of Neurology, Movement Disorder Division, Mayo Clinic, Rochester, Minnesota, USA
    Mov Disord 20:1515-20. 2005
    ..We compared our two cases to all previously published pathological cases of combined LBD and motor neuron degeneration...
  80. pmc Survival profiles of patients with frontotemporal dementia and motor neuron disease
    William T Hu
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Arch Neurol 66:1359-64. 2009
    ..Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases associated with TAR DNA-binding protein 43- and ubiquitin-immunoreactive pathologic lesions...
  81. ncbi request reprint Antemortem diagnosis of frontotemporal lobar degeneration
    David S Knopman
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Ann Neurol 57:480-8. 2005
    ..The antemortem consensus diagnosis of FTLD was moderately sensitive and very specific. With experienced clinicians and awareness of the unique manifestations of FTLD, accurate antemortem diagnosis was feasible...
  82. ncbi request reprint MRI correlates of alien leg-like phenomenon in corticobasal degeneration
    William T Hu
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Mov Disord 20:870-3. 2005
    ..The MRI brain scan in both had unique focal abnormalities in the corresponding leg area of the homunculus that may be the substrate for the alien limb features...
  83. ncbi request reprint Hippocampal sclerosis in tau-negative frontotemporal lobar degeneration
    Keith A Josephs
    Department of Neurology, Behavioral Neurology and Movement Disorders, Mayo Clinic, Rochester, MN 5590, United States
    Neurobiol Aging 28:1718-22. 2007
    ..02). The difference in frequency of HpScl in FTLD-U compared to FTLD-MND is further evidence that they are separate clinicopathologic entities...
  84. ncbi request reprint Extending the clinicopathological spectrum of neurofilament inclusion disease
    Keith A Josephs
    Department of Neurology, Mayo Clinic Rochester, Rochester, Minnesota, USA
    Acta Neuropathol 109:427-32. 2005
    ..This case extends the clinical and pathological spectrum of NFID to include cases with predominant parkinsonian and pyramidal features...
  85. ncbi request reprint Frontotemporal lobar degeneration with upper motor neuron disease/ primary lateral sclerosis
    Keith A Josephs
    Divisions of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 69:1800-1. 2007
  86. ncbi request reprint Pathological gambling caused by drugs used to treat Parkinson disease
    M Leann Dodd
    Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN 55905, USA
    Arch Neurol 62:1377-81. 2005
    ..Pathological gambling is a rare potential complication related to treatment of Parkinson disease (PD). However, the etiology of this behavior is poorly understood...
  87. doi request reprint Neuropathology of variants of progressive supranuclear palsy
    Dennis W Dickson
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Curr Opin Neurol 23:394-400. 2010
    ..This review highlights the range of clinical and pathologic presentations of PSP and its variants...
  88. doi request reprint Neuropathology of non-motor features of Parkinson disease
    Dennis W Dickson
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 15:S1-5. 2009
    ....
  89. ncbi request reprint Hippocampal sclerosis and ubiquitin-positive inclusions in dementia lacking distinctive histopathology
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, Minn, USA
    Dement Geriatr Cogn Disord 17:342-5. 2004
    ..The high prevalence of HpScl may be the cause of some of the clinical features observed in patients with frontotemporal lobar degeneration...
  90. ncbi request reprint Heterozygous Niemann-Pick disease type C presenting with tremor
    Keith A Josephs
    Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
    Neurology 63:2189-90. 2004
  91. ncbi request reprint Neurophysiologic studies in Morvan syndrome
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    J Clin Neurophysiol 21:440-5. 2004
    ..The absence of abnormalities on imaging studies suggests that central nervous system symptoms are related to functional rather than structural disruption of neural networks...
  92. ncbi request reprint Benign tremulous parkinsonism
    Keith A Josephs
    Division of Movement Disorders, Department of Neurology, Mayo Clinic, Rochester, Minn, USA
    Arch Neurol 63:354-7. 2006
    ..Benign tremulous parkinsonism has never been precisely defined nor has the long-term course been studied...
  93. ncbi request reprint Alpha-synuclein studies are negative in postencephalic parkinsonism of von Economo
    Keith A Josephs
    Department of Neurology, Division of Movement Disorders, Mayo Clinic, Rochester, MN, USA
    Neurology 59:645-6. 2002
  94. ncbi request reprint Unusual compulsive behaviors primarily related to dopamine agonist therapy in Parkinson's disease and multiple system atrophy
    Andrew McKeon
    Department of Neurology, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA
    Parkinsonism Relat Disord 13:516-9. 2007
    ....
  95. pmc Anatomic correlates of stereotypies in frontotemporal lobar degeneration
    Keith A Josephs
    Department of Neurology, Behavioral Neurology and Movement Disorders, Mayo Clinic, Rochester, MN 55905, United States
    Neurobiol Aging 29:1859-63. 2008
    ..Stereotypies in FTLD are therefore associated with a greater proportion of striatal to cortical volume loss than those without stereotypies...
  96. ncbi request reprint Capgras syndrome and its relationship to neurodegenerative disease
    Keith A Josephs
    Divisions of Behavioral Neurology and Movement Disorders, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Arch Neurol 64:1762-6. 2007
    ..Capgras syndrome is characterized by a delusional belief that a person has been replaced by an imposter. It has been described in psychiatric and neurological (neurodegenerative and nonneurodegenerative) diseases...
  97. pmc Frontotemporal lobar degeneration
    Keith A Josephs
    Department of Neurology, Division of Behavioral Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
    Neurol Clin 25:683-96, vi. 2007
    ..Imaging modalities are clinically useful in FTLD, although pathology remains the gold standard for definitive diagnosis. To date, four different genes have been identified that account for FTLD...
  98. ncbi request reprint The clinical spectrum of stereotypies in frontotemporal lobar degeneration
    Farrah J Mateen
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Mov Disord 24:1237-40. 2009
    ..15%, P = 0.02). Of the 19 patients with stereotypies, three had vocal stereotypies, and three had both vocal and motor stereotypies. Of the 16 subjects with motor stereotypies, 9(56%) were appendicular and 7 (44%) were craniocervical...
  99. doi request reprint Evidence that incidental Lewy body disease is pre-symptomatic Parkinson's disease
    Dennis W Dickson
    Neuropathology Laboratory, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Acta Neuropathol 115:437-44. 2008
    ..The findings suggest that iLBD is preclinical PD and that the lack of symptoms is due to subthreshold pathology...
  100. 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...
  101. doi request reprint Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia
    Victoria Passov
    Department of Psychiatry, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA
    Arch Neurol 68:376-80. 2011
    ..To examine the relationship between progranulin gene mutation and apraxic agraphia...