Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease
Identifieur interne : 000476 ( Ncbi/Curation ); précédent : 000475; suivant : 000477Clinical 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. TrojanowskiSource :
- Neurology [ 0028-3878 ] ; 2004.
Abstract
Recently described neuronal intermediate filament inclusion disease (NIFID) shows considerable clinical heterogeneity.
To assess the spectrum of the clinical and neuropathological features in 10 NIFID cases.
Retrospective chart and comprehensive neuropathological review of these NIFID cases was conducted.
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.
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:
PubMed: 15505152
PubMed Central: 3516854
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000582
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :000579
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000925
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000476
Links to Exploration step
PMC:3516854Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease</title>
<author><name sortKey="Cairns, N J" sort="Cairns, N J" uniqKey="Cairns N" first="N. J." last="Cairns">N. J. Cairns</name>
</author>
<author><name sortKey="Grossman, M" sort="Grossman, M" uniqKey="Grossman M" first="M." last="Grossman">M. Grossman</name>
</author>
<author><name sortKey="Arnold, S E" sort="Arnold, S E" uniqKey="Arnold S" first="S. E." last="Arnold">S. E. Arnold</name>
</author>
<author><name sortKey="Burn, D J" sort="Burn, D J" uniqKey="Burn D" first="D. J." last="Burn">D. J. Burn</name>
</author>
<author><name sortKey="Jaros, E" sort="Jaros, E" uniqKey="Jaros E" first="E." last="Jaros">E. Jaros</name>
</author>
<author><name sortKey="Perry, R H" sort="Perry, R H" uniqKey="Perry R" first="R. H." last="Perry">R. H. Perry</name>
</author>
<author><name sortKey="Duyckaerts, C" sort="Duyckaerts, C" uniqKey="Duyckaerts C" first="C." last="Duyckaerts">C. Duyckaerts</name>
</author>
<author><name sortKey="Stankoff, B" sort="Stankoff, B" uniqKey="Stankoff B" first="B." last="Stankoff">B. Stankoff</name>
</author>
<author><name sortKey="Pillon, B" sort="Pillon, B" uniqKey="Pillon B" first="B." last="Pillon">B. Pillon</name>
</author>
<author><name sortKey="Skullerud, K" sort="Skullerud, K" uniqKey="Skullerud K" first="K." last="Skullerud">K. Skullerud</name>
</author>
<author><name sortKey="Cruz Sanchez, F F" sort="Cruz Sanchez, F F" uniqKey="Cruz Sanchez F" first="F. F." last="Cruz-Sanchez">F. F. Cruz-Sanchez</name>
</author>
<author><name sortKey="Bigio, E H" sort="Bigio, E H" uniqKey="Bigio E" first="E. H." last="Bigio">E. H. Bigio</name>
</author>
<author><name sortKey="Mackenzie, I R A" sort="Mackenzie, I R A" uniqKey="Mackenzie I" first="I. R. A." last="Mackenzie">I. R. A. Mackenzie</name>
</author>
<author><name sortKey="Gearing, M" sort="Gearing, M" uniqKey="Gearing M" first="M." last="Gearing">M. Gearing</name>
</author>
<author><name sortKey="Juncos, J L" sort="Juncos, J L" uniqKey="Juncos J" first="J. L." last="Juncos">J. L. Juncos</name>
</author>
<author><name sortKey="Glass, J D" sort="Glass, J D" uniqKey="Glass J" first="J. D." last="Glass">J. D. Glass</name>
</author>
<author><name sortKey="Yokoo, H" sort="Yokoo, H" uniqKey="Yokoo H" first="H." last="Yokoo">H. Yokoo</name>
</author>
<author><name sortKey="Nakazato, Y" sort="Nakazato, Y" uniqKey="Nakazato Y" first="Y." last="Nakazato">Y. Nakazato</name>
</author>
<author><name sortKey="Mosaheb, S" sort="Mosaheb, S" uniqKey="Mosaheb S" first="S." last="Mosaheb">S. Mosaheb</name>
</author>
<author><name sortKey="Thorpe, J R" sort="Thorpe, J R" uniqKey="Thorpe J" first="J. R." last="Thorpe">J. R. Thorpe</name>
</author>
<author><name sortKey="Uryu, K" sort="Uryu, K" uniqKey="Uryu K" first="K." last="Uryu">K. Uryu</name>
</author>
<author><name sortKey="Lee, V M Y" sort="Lee, V M Y" uniqKey="Lee V" first="V. M.-Y." last="Lee">V. M.-Y. Lee</name>
</author>
<author><name sortKey="Trojanowski, J Q" sort="Trojanowski, J Q" uniqKey="Trojanowski J" first="J. Q." last="Trojanowski">J. Q. Trojanowski</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">15505152</idno>
<idno type="pmc">3516854</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516854</idno>
<idno type="RBID">PMC:3516854</idno>
<date when="2004">2004</date>
<idno type="wicri:Area/Pmc/Corpus">000582</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000582</idno>
<idno type="wicri:Area/Pmc/Curation">000579</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000579</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000925</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000925</idno>
<idno type="wicri:Area/Ncbi/Merge">000476</idno>
<idno type="wicri:Area/Ncbi/Curation">000476</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease</title>
<author><name sortKey="Cairns, N J" sort="Cairns, N J" uniqKey="Cairns N" first="N. J." last="Cairns">N. J. Cairns</name>
</author>
<author><name sortKey="Grossman, M" sort="Grossman, M" uniqKey="Grossman M" first="M." last="Grossman">M. Grossman</name>
</author>
<author><name sortKey="Arnold, S E" sort="Arnold, S E" uniqKey="Arnold S" first="S. E." last="Arnold">S. E. Arnold</name>
</author>
<author><name sortKey="Burn, D J" sort="Burn, D J" uniqKey="Burn D" first="D. J." last="Burn">D. J. Burn</name>
</author>
<author><name sortKey="Jaros, E" sort="Jaros, E" uniqKey="Jaros E" first="E." last="Jaros">E. Jaros</name>
</author>
<author><name sortKey="Perry, R H" sort="Perry, R H" uniqKey="Perry R" first="R. H." last="Perry">R. H. Perry</name>
</author>
<author><name sortKey="Duyckaerts, C" sort="Duyckaerts, C" uniqKey="Duyckaerts C" first="C." last="Duyckaerts">C. Duyckaerts</name>
</author>
<author><name sortKey="Stankoff, B" sort="Stankoff, B" uniqKey="Stankoff B" first="B." last="Stankoff">B. Stankoff</name>
</author>
<author><name sortKey="Pillon, B" sort="Pillon, B" uniqKey="Pillon B" first="B." last="Pillon">B. Pillon</name>
</author>
<author><name sortKey="Skullerud, K" sort="Skullerud, K" uniqKey="Skullerud K" first="K." last="Skullerud">K. Skullerud</name>
</author>
<author><name sortKey="Cruz Sanchez, F F" sort="Cruz Sanchez, F F" uniqKey="Cruz Sanchez F" first="F. F." last="Cruz-Sanchez">F. F. Cruz-Sanchez</name>
</author>
<author><name sortKey="Bigio, E H" sort="Bigio, E H" uniqKey="Bigio E" first="E. H." last="Bigio">E. H. Bigio</name>
</author>
<author><name sortKey="Mackenzie, I R A" sort="Mackenzie, I R A" uniqKey="Mackenzie I" first="I. R. A." last="Mackenzie">I. R. A. Mackenzie</name>
</author>
<author><name sortKey="Gearing, M" sort="Gearing, M" uniqKey="Gearing M" first="M." last="Gearing">M. Gearing</name>
</author>
<author><name sortKey="Juncos, J L" sort="Juncos, J L" uniqKey="Juncos J" first="J. L." last="Juncos">J. L. Juncos</name>
</author>
<author><name sortKey="Glass, J D" sort="Glass, J D" uniqKey="Glass J" first="J. D." last="Glass">J. D. Glass</name>
</author>
<author><name sortKey="Yokoo, H" sort="Yokoo, H" uniqKey="Yokoo H" first="H." last="Yokoo">H. Yokoo</name>
</author>
<author><name sortKey="Nakazato, Y" sort="Nakazato, Y" uniqKey="Nakazato Y" first="Y." last="Nakazato">Y. Nakazato</name>
</author>
<author><name sortKey="Mosaheb, S" sort="Mosaheb, S" uniqKey="Mosaheb S" first="S." last="Mosaheb">S. Mosaheb</name>
</author>
<author><name sortKey="Thorpe, J R" sort="Thorpe, J R" uniqKey="Thorpe J" first="J. R." last="Thorpe">J. R. Thorpe</name>
</author>
<author><name sortKey="Uryu, K" sort="Uryu, K" uniqKey="Uryu K" first="K." last="Uryu">K. Uryu</name>
</author>
<author><name sortKey="Lee, V M Y" sort="Lee, V M Y" uniqKey="Lee V" first="V. M.-Y." last="Lee">V. M.-Y. Lee</name>
</author>
<author><name sortKey="Trojanowski, J Q" sort="Trojanowski, J Q" uniqKey="Trojanowski J" first="J. Q." last="Trojanowski">J. Q. Trojanowski</name>
</author>
</analytic>
<series><title level="j">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<idno type="eISSN">1526-632X</idno>
<imprint><date when="2004">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<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>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000476 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 000476 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonFranceV1 |flux= Ncbi |étape= Curation |type= RBID |clé= PMC:3516854 |texte= Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:15505152" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a ParkinsonFranceV1
![]() | This area was generated with Dilib version V0.6.29. | ![]() |