MovDisordV3, Main, Merge, bibRecord, 006891

Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction

Identifieur interne : 006891 ( Main/Merge ); précédent : 006890; suivant : 006892

Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction

Auteurs : Peter C. G. Nijssen [Pays-Bas] ; Esther Brusse [Pays-Bas] ; Antonius C. M. Leyten [Pays-Bas] ; J. J. Martin [Belgique] ; Johannes L. J. M. Teepen [Pays-Bas] ; Raymund A. C. Roos [Pays-Bas]

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0369750

Descripteurs français

Pascal (Inist)
- Céroïde lipofuscinose neuronale, Caractère autosomique, Caractère dominant, Age apparition, Parkinsonisme, Tomoscintigraphie, Photon, Phénotype, Etude familiale, Diagnostic, Anatomopathologie, Homme, Lipide.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Age of onset, Autosomal character, Diagnosis, Dominant character, Emission tomography, Family study, Human, Lipids, Neuronal ceroid lipofuscinosis, Parkinsonism, Pathology, Phenotype, Photon.

Abstract

We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in 6 affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in 2 patients. Diagnosis was confirmed by brain biopsy in 1 patient and full autopsy in 2 patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. ¹²³I-IBZM Single photon emission computed tomography in 2 patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 002737
to stream PascalFrancis, to step Curation: 000584
to stream PascalFrancis, to step Checkpoint: 002852

Links to Exploration step

Pascal:02-0369750

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title>
<author><name sortKey="Nijssen, Peter C G" sort="Nijssen, Peter C G" uniqKey="Nijssen P" first="Peter C. G." last="Nijssen">Peter C. G. Nijssen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leyten, Antonius C M" sort="Leyten, Antonius C M" uniqKey="Leyten A" first="Antonius C. M." last="Leyten">Antonius C. M. Leyten</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martin, J J" sort="Martin, J J" uniqKey="Martin J" first="J. J." last="Martin">J. J. Martin</name>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Born-Bunge Foundation and University of Antwerp</s1>
<s2>Antwerp</s2>
<s3>BEL</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author><name sortKey="Teepen, Johannes L J M" sort="Teepen, Johannes L J M" uniqKey="Teepen J" first="Johannes L. J. M." last="Teepen">Johannes L. J. M. Teepen</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pathology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roos, Raymund A C" sort="Roos, Raymund A C" uniqKey="Roos R" first="Raymund A. C." last="Roos">Raymund A. C. Roos</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Neurology, Leiden University Medical Centre</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">02-0369750</idno>
<date when="2002">2002</date>
<idno type="stanalyst">PASCAL 02-0369750 INIST</idno>
<idno type="RBID">Pascal:02-0369750</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002737</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000584</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002852</idno>
<idno type="wicri:doubleKey">0885-3185:2002:Nijssen P:autosomal:dominant:adult</idno>
<idno type="wicri:Area/Main/Merge">006891</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title>
<author><name sortKey="Nijssen, Peter C G" sort="Nijssen, Peter C G" uniqKey="Nijssen P" first="Peter C. G." last="Nijssen">Peter C. G. Nijssen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leyten, Antonius C M" sort="Leyten, Antonius C M" uniqKey="Leyten A" first="Antonius C. M." last="Leyten">Antonius C. M. Leyten</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martin, J J" sort="Martin, J J" uniqKey="Martin J" first="J. J." last="Martin">J. J. Martin</name>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Born-Bunge Foundation and University of Antwerp</s1>
<s2>Antwerp</s2>
<s3>BEL</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author><name sortKey="Teepen, Johannes L J M" sort="Teepen, Johannes L J M" uniqKey="Teepen J" first="Johannes L. J. M." last="Teepen">Johannes L. J. M. Teepen</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pathology, St. Elisabeth Hospital</s1>
<s2>Tilburg</s2>
<s3>NLD</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Tilburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roos, Raymund A C" sort="Roos, Raymund A C" uniqKey="Roos R" first="Raymund A. C." last="Roos">Raymund A. C. Roos</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Neurology, Leiden University Medical Centre</s1>
<s2>Leiden</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Autosomal character</term>
<term>Diagnosis</term>
<term>Dominant character</term>
<term>Emission tomography</term>
<term>Family study</term>
<term>Human</term>
<term>Lipids</term>
<term>Neuronal ceroid lipofuscinosis</term>
<term>Parkinsonism</term>
<term>Pathology</term>
<term>Phenotype</term>
<term>Photon</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Céroïde lipofuscinose neuronale</term>
<term>Caractère autosomique</term>
<term>Caractère dominant</term>
<term>Age apparition</term>
<term>Parkinsonisme</term>
<term>Tomoscintigraphie</term>
<term>Photon</term>
<term>Phénotype</term>
<term>Etude familiale</term>
<term>Diagnostic</term>
<term>Anatomopathologie</term>
<term>Homme</term>
<term>Lipide</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in 6 affected individuals in three generations. Disease onset was usually in the fifth decade, but was earlier in the youngest generation. Early symptoms consisted of myoclonus in face and arms, epilepsy, auditory symptoms, cognitive decline, or depression. Parkinsonism occurred a few years after disease onset, with stooped posture, shuffling gait, bradykinesia, and mask face. Four subjects deteriorated to a state of severe handicap, with severe dementia, contractures, dysphagia, and dysarthria. Leg weakness evolved to flaccid paraparesis in 2 patients. Diagnosis was confirmed by brain biopsy in 1 patient and full autopsy in 2 patients. Abundant intraneuronal storage of autofluorescent material was found throughout the brain. Electron microscopy showed granular osmiophilic deposits and scarce fingerprint profiles. Striking loss of neurons in the substantia nigra pars compacta and reticulata was found. <sup>123</sup>
I-IBZM Single photon emission computed tomography in 2 patients showed loss of postsynaptic D2 receptor binding in the striatum. We conclude that parkinsonism in ANCL is likely to be caused by both presynaptic nigral cell loss and postsynaptic striatal degeneration.</div>
</front>
</TEI>
<affiliations><list><country><li>Belgique</li>
<li>Pays-Bas</li>
</country>
<region><li>Hollande-Méridionale</li>
<li>Province d'Anvers</li>
</region>
<settlement><li>Anvers</li>
<li>Leyde</li>
</settlement>
<orgName><li>Université d'Anvers</li>
</orgName>
</list>
<tree><country name="Pays-Bas"><noRegion><name sortKey="Nijssen, Peter C G" sort="Nijssen, Peter C G" uniqKey="Nijssen P" first="Peter C. G." last="Nijssen">Peter C. G. Nijssen</name>
</noRegion>
<name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name>
<name sortKey="Leyten, Antonius C M" sort="Leyten, Antonius C M" uniqKey="Leyten A" first="Antonius C. M." last="Leyten">Antonius C. M. Leyten</name>
<name sortKey="Roos, Raymund A C" sort="Roos, Raymund A C" uniqKey="Roos R" first="Raymund A. C." last="Roos">Raymund A. C. Roos</name>
<name sortKey="Teepen, Johannes L J M" sort="Teepen, Johannes L J M" uniqKey="Teepen J" first="Johannes L. J. M." last="Teepen">Johannes L. J. M. Teepen</name>
</country>
<country name="Belgique"><region name="Province d'Anvers"><name sortKey="Martin, J J" sort="Martin, J J" uniqKey="Martin J" first="J. J." last="Martin">J. J. Martin</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006891 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 006891 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:02-0369750
   |texte=   Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction

Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri