Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
Identifieur interne : 002E56 ( Istex/Checkpoint ); précédent : 002E55; suivant : 002E57Autosomal 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 ] ; 2002-05.
English descriptors
- KwdEn :
Abstract
We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six 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 two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two 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 two 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. © 2002 Movement Disorder Society.
Url:
DOI: 10.1002/mds.10104
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
ISTEX:211D1509CA5B62371B1C991B180C5D74C9552BEALe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">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>
</author>
<author><name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name>
</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>
</author>
<author><name sortKey="Martin, J J" sort="Martin, J J" uniqKey="Martin J" first="J. J." last="Martin">J. J. Martin</name>
</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>
</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>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:211D1509CA5B62371B1C991B180C5D74C9552BEA</idno>
<date when="2002" year="2002">2002</date>
<idno type="doi">10.1002/mds.10104</idno>
<idno type="url">https://api.istex.fr/document/211D1509CA5B62371B1C991B180C5D74C9552BEA/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001E86</idno>
<idno type="wicri:Area/Istex/Curation">001E86</idno>
<idno type="wicri:Area/Istex/Checkpoint">002E56</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">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"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, St. Elisabeth Hospital, Tilburg</wicri:regionArea>
<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"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, St. Elisabeth Hospital, Tilburg</wicri:regionArea>
<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"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, St. Elisabeth Hospital, Tilburg</wicri:regionArea>
<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"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>Born‐Bunge Foundation and University of Antwerp, Antwerp</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pathology, St. Elisabeth Hospital, Tilburg</wicri:regionArea>
<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"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2002-05">2002-05</date>
<biblScope unit="vol">17</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="482">482</biblScope>
<biblScope unit="page" to="487">487</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">211D1509CA5B62371B1C991B180C5D74C9552BEA</idno>
<idno type="DOI">10.1002/mds.10104</idno>
<idno type="ArticleID">MDS10104</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>123I‐IBZM SPECT</term>
<term>autosomal dominant</term>
<term>myoclonus</term>
<term>neuronal ceroid lipofuscinosis</term>
<term>parkinsonism</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</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 six 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 two patients. Diagnosis was confirmed by brain biopsy in one patient and full autopsy in two 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 two 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. © 2002 Movement Disorder Society.</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/Istex/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002E56 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Checkpoint/biblio.hfd -nk 002E56 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Istex |étape= Checkpoint |type= RBID |clé= ISTEX:211D1509CA5B62371B1C991B180C5D74C9552BEA |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. |