Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
Identifieur interne : 006891 ( Main/Merge ); précédent : 006890; suivant : 006892Autosomal 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.
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- Pascal (Inist)
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- topic : Homme.
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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.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title>
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<author><name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name>
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<author><name sortKey="Martin, J J" sort="Martin, J J" uniqKey="Martin J" first="J. J." last="Martin">J. J. Martin</name>
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<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>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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<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>
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<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>
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