ParkinsonFranceV1, Ncbi, Curation, bibRecord, 000476

Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease

Identifieur interne : 000476 ( Ncbi/Curation ); précédent : 000475; suivant : 000477

Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease

Auteurs : N. J. Cairns ; M. Grossman ; S. E. Arnold ; D. J. Burn ; E. Jaros ; R. H. Perry ; C. Duyckaerts ; B. Stankoff ; B. Pillon ; K. Skullerud ; F. F. Cruz-Sanchez ; E. H. Bigio ; I. R. A. Mackenzie ; M. Gearing ; J. L. Juncos ; J. D. Glass ; H. Yokoo ; Y. Nakazato ; S. Mosaheb ; J. R. Thorpe ; K. Uryu ; V. M.-Y. Lee ; J. Q. Trojanowski

Source :

Neurology [ 0028-3878 ] ; 2004.

RBID : PMC:3516854

Abstract

Background

Recently described neuronal intermediate filament inclusion disease (NIFID) shows considerable clinical heterogeneity.

Objective

To assess the spectrum of the clinical and neuropathological features in 10 NIFID cases.

Methods

Retrospective chart and comprehensive neuropathological review of these NIFID cases was conducted.

Results

The mean age at onset was 40.8 (range 23 to 56) years, mean disease duration was 4.5 (range 2.7 to 13) years, and mean age at death was 45.3 (range 28 to 61) years. The most common presenting symptoms were behavioral and personality changes in 7 of 10 cases and, less often, memory loss, cognitive impairment, language deficits, and motor weakness. Extrapyramidal features were present in 8 of 10 patients. Language impairment, perseveration, executive dysfunction, hyperreflexia, and primitive reflexes were frequent signs, whereas a minority had buccofacial apraxia, supranuclear ophthalmoplegia, upper motor neuron disease (MND), and limb dystonia. Frontotemporal and caudate atrophy were common. Histologic changes were extensive in many cortical areas, deep gray matter, cerebellum, and spinal cord. The hallmark lesions of NIFID were unique neuronal IF inclusions detected most robustly by antibodies to neurofilament triplet proteins and α-internexin.

Conclusion

NIFID is a neuropathologically distinct, clinically heterogeneous variant of frontotemporal dementia (FTD) that may include parkinsonism or MND. Neuronal IF inclusions are the neuropathological signatures of NIFID that distinguish it from all other FTD variants including FTD with MND and FTD tauopathies.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516854

PubMed: 15505152
PubMed Central: 3516854

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PMC:3516854

Le document en format XML

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<author><name sortKey="Cairns, N J" sort="Cairns, N J" uniqKey="Cairns N" first="N. J." last="Cairns">N. J. Cairns</name>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">Recently described neuronal intermediate filament inclusion disease (NIFID) shows considerable clinical heterogeneity.</p>
</sec>
<sec id="S2"><title>Objective</title>
<p id="P2">To assess the spectrum of the clinical and neuropathological features in 10 NIFID cases.</p>
</sec>
<sec id="S3"><title>Methods</title>
<p id="P3">Retrospective chart and comprehensive neuropathological review of these NIFID cases was conducted.</p>
</sec>
<sec id="S4"><title>Results</title>
<p id="P4">The mean age at onset was 40.8 (range 23 to 56) years, mean disease duration was 4.5 (range 2.7 to 13) years, and mean age at death was 45.3 (range 28 to 61) years. The most common presenting symptoms were behavioral and personality changes in 7 of 10 cases and, less often, memory loss, cognitive impairment, language deficits, and motor weakness. Extrapyramidal features were present in 8 of 10 patients. Language impairment, perseveration, executive dysfunction, hyperreflexia, and primitive reflexes were frequent signs, whereas a minority had buccofacial apraxia, supranuclear ophthalmoplegia, upper motor neuron disease (MND), and limb dystonia. Frontotemporal and caudate atrophy were common. Histologic changes were extensive in many cortical areas, deep gray matter, cerebellum, and spinal cord. The hallmark lesions of NIFID were unique neuronal IF inclusions detected most robustly by antibodies to neurofilament triplet proteins and α-internexin.</p>
</sec>
<sec id="S5"><title>Conclusion</title>
<p id="P5">NIFID is a neuropathologically distinct, clinically heterogeneous variant of frontotemporal dementia (FTD) that may include parkinsonism or MND. Neuronal IF inclusions are the neuropathological signatures of NIFID that distinguish it from all other FTD variants including FTD with MND and FTD tauopathies.</p>
</sec>
</div>
</front>
</TEI>
</record>

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Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease

Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease

Source :

Abstract

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Le document en format XML

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