Frontotemporal lobar degeneration and ubiquitin immunohistochemistry

Josephs, Keith A.; Holton, Janice L.; Rossor, Martin N.; Godbolt, Alison K.; Ozawa, Tetsutaro; Strand, Kate; Khan, Naheed L.; Al‐Sarraj, Safa; Révész, Tamás

doi:10.1111/j.1365-2990.2003.00545.x

Cited by 150 publications

(90 citation statements)

References 15 publications

(21 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Two of the 17 subjects had died, one with stereotypies and one without. Both had a pathologic confirmed diagnosis of FTLD with ubiquitin-only immunoreactive changes [8].…”

Section: Resultsmentioning

confidence: 99%

Anatomic correlates of stereotypies in frontotemporal lobar degeneration

Josephs

Whitwell

Jack

2008

Neurobiology of Aging

View full text Add to dashboard Cite

Stereotypies are common in frontotemporal lobar degeneration (FTLD) however the anatomical correlates of stereotypies are unknown. We therefore set out to compare patterns of grey matter volume loss in FTLD subjects with and without stereotypies. Subjects with a diagnosis of FTLD that met international consensus criteria were prospectively recruited and separated into those with and without stereotypies. MRI and cognitive measures were obtained and voxel-based morphometry was used to assess the patterns of grey matter volume loss in those with and without stereotypies, compared to a group of age-and gender-matched controls. Demographic and clinical features were similar between subjects with and without stereotypies. FTLD subjects with stereotypies had greater volume loss in the striatum compared to those without stereotypies. Those without stereotypies showed a more widespread and typical pattern of cortical frontotemporal loss. Stereotypies in FTLD are therefore associated with a greater proportion of striatal to cortical volume loss than those without stereotypies.

show abstract

“…Two of the 17 subjects had died, one with stereotypies and one without. Both had a pathologic confirmed diagnosis of FTLD with ubiquitin-only immunoreactive changes [8].…”

Section: Resultsmentioning

confidence: 99%

Anatomic correlates of stereotypies in frontotemporal lobar degeneration

Josephs

Whitwell

Jack

2008

Neurobiology of Aging

View full text Add to dashboard Cite

show abstract

“…Many cases of "dementia lacking distinctive histology" (Knopman et al 1990) have subsequently been shown to exhibit positive immunostaining for ubiquitin (Josephs et al 2004;Lipton et al 2004;Mackenzie et al 2006c). In our series, brain tissue was available in 13 cases.…”

Section: Neuropathologic Considerationsmentioning

confidence: 99%

Prominent phenotypic variability associated with mutations in Progranulin

Kelley

Haidar

Boeve

et al. 2009

Neurobiology of Aging

160

141

View full text Add to dashboard Cite

Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or without parkinsonism. We describe the prominent phenotypic variability within and among eight kindreds evaluated at Mayo Clinic Rochester and/or Mayo Clinic Jacksonville in whom mutations in PGRN were found. All available clinical, genetic, neuroimaging and neuropathologic data was reviewed. Age of onset ranged from 49 to 88 years and disease duration ranged from 1 to 14 years. Clinical diagnoses included frontotemporal dementia (FTD), primary progressive aphasia, FTD with parkinsonism, parkinsonism, corticobasal syndrome, Alzheimer's disease, amnestic mild cognitive impairment, and others. One kindred exhibited maximal right cerebral hemispheric atrophy in all four affected individuals, while another had maximal left hemisphere involvement in all three of the affected. Neuropathologic examination of 13 subjects revealed frontotemporal lobar degeneration with ubiquitin-positive inclusions plus neuronal intranuclear inclusions in all cases. Age of onset, clinical phenotypes and MRI findings associated with most PGRN mutations varied

show abstract

“…The pathological diagnosis of AD is made according to the presence of amyloid plaques and neurofibrillary tangles (Braak and Braak, 1996). The pathological diagnoses underlying FTLD are heterogeneous, although the most common pathological subtype is frontotemporal lobar degeneration with ubiquitin-immunoreactive changes (FTLD-U) (Josephs, et al, 2004). Understanding the natural progression of these diseases will be important for the assessment of future disease modifying treatments.…”

Section: Introductionmentioning

confidence: 99%

Rates of brain atrophy over time in autopsy-proven frontotemporal dementia and Alzheimer disease

et al. 2008

View full text Add to dashboard Cite

Rates of brain loss have been shown to accelerate over time in early Alzheimer's disease (AD); however the trajectory of change in frontotemporal lobar degeneration with ubiquitin immunoreactive-changes (FTLD-U) is unknown. This study compared the progression of atrophy over multiple MRI in subjects with autopsy confirmed AD and FTLD-U. Nine subjects with autopsy confirmed FTLD-U, and nine with autopsy confirmed AD, were identified that had three or more serial MRI. The boundary-shift integral was used to calculate change over time in whole brain and ventricular volume. A hierarchical regression model was used to estimate the slope of volume change in AD and FTLD-U over time and to estimate differences in the slopes across the subject groups. Whole brain volume loss did not deviate from a linear rate over time in both AD and FTLD-U subjects, although this may be due to limited sample size. The FTLD-U subjects had a faster rate (23ml/yr) than the AD subjects (10ml/yr). The rate of ventricular expansion accelerated over time. At the point when each subject had a Clinical Dementia Rating Sum-of-Boxes score of 6 the annual rate was 7ml/yr in FTLD-U and 5ml/yr in AD. These rates of change increased by an estimated 1.66ml/yr in FTLD-U, and 0.44ml/yr in AD, although these estimates were not significantly different between the two groups. The trajectory 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.

show abstract

Frontotemporal lobar degeneration and ubiquitin immunohistochemistry

Cited by 150 publications

References 15 publications

Anatomic correlates of stereotypies in frontotemporal lobar degeneration

Anatomic correlates of stereotypies in frontotemporal lobar degeneration

Prominent phenotypic variability associated with mutations in Progranulin

Rates of brain atrophy over time in autopsy-proven frontotemporal dementia and Alzheimer disease

Contact Info

Product

Resources

About