Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.
Identifieur interne : 000787 ( Ncbi/Curation ); précédent : 000786; suivant : 000788Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.
Auteurs : Peter C G. Nijssen [Pays-Bas] ; Esther Brusse ; Antonius C M. Leyten ; J J Martin ; Johannes L J M. Teepen ; Raymund A C. RoosSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Adult, Corpus Striatum (pathology), Corpus Striatum (ultrastructure), Female, Genes, Dominant, Humans, Male, Middle Aged, Nerve Degeneration, Neuronal Ceroid-Lipofuscinoses (complications), Neuronal Ceroid-Lipofuscinoses (genetics), Neuronal Ceroid-Lipofuscinoses (pathology), Neuronal Ceroid-Lipofuscinoses (radionuclide imaging), Parkinsonian Disorders (etiology), Parkinsonian Disorders (physiopathology), Parkinsonian Disorders (radionuclide imaging), Pedigree, Substantia Nigra (pathology), Substantia Nigra (ultrastructure), Tomography, Emission-Computed, Single-Photon.
- MESH :
- complications : Neuronal Ceroid-Lipofuscinoses.
- etiology : Parkinsonian Disorders.
- genetics : Neuronal Ceroid-Lipofuscinoses.
- pathology : Corpus Striatum, Neuronal Ceroid-Lipofuscinoses, Substantia Nigra.
- physiopathology : Parkinsonian Disorders.
- radionuclide imaging : Neuronal Ceroid-Lipofuscinoses, Parkinsonian Disorders.
- ultrastructure : Corpus Striatum, Substantia Nigra.
- Adult, Female, Genes, Dominant, Humans, Male, Middle Aged, Nerve Degeneration, Pedigree, Tomography, Emission-Computed, Single-Photon.
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. (123)I-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.
DOI: 10.1002/mds.10104
PubMed: 12112194
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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">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12112194</idno><idno type="pmid">12112194</idno><idno type="doi">10.1002/mds.10104</idno><idno type="wicri:Area/PubMed/Corpus">003A64</idno><idno type="wicri:Area/PubMed/Curation">003A64</idno><idno type="wicri:Area/PubMed/Checkpoint">003B86</idno><idno type="wicri:Area/Ncbi/Merge">000787</idno><idno type="wicri:Area/Ncbi/Curation">000787</idno></publicationStmt><sourceDesc><biblStruct><analytic><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><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands. p.nijssen@elisabeth.nl</nlm:affiliation><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></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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Corpus Striatum (pathology)</term><term>Corpus Striatum (ultrastructure)</term><term>Female</term><term>Genes, Dominant</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nerve Degeneration</term><term>Neuronal Ceroid-Lipofuscinoses (complications)</term><term>Neuronal Ceroid-Lipofuscinoses (genetics)</term><term>Neuronal Ceroid-Lipofuscinoses (pathology)</term><term>Neuronal Ceroid-Lipofuscinoses (radionuclide imaging)</term><term>Parkinsonian Disorders (etiology)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Parkinsonian Disorders (radionuclide imaging)</term><term>Pedigree</term><term>Substantia Nigra (pathology)</term><term>Substantia Nigra (ultrastructure)</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Neuronal Ceroid-Lipofuscinoses</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Neuronal Ceroid-Lipofuscinoses</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Corpus Striatum</term><term>Neuronal Ceroid-Lipofuscinoses</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Neuronal Ceroid-Lipofuscinoses</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Corpus Striatum</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Genes, Dominant</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nerve Degeneration</term><term>Pedigree</term><term>Tomography, Emission-Computed, Single-Photon</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 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. (123)I-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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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