Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
Identifieur interne : 001E86 ( Istex/Corpus ); précédent : 001E85; suivant : 001E87Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction
Auteurs : Peter C. G. Nijssen ; Esther Brusse ; Antonius C. M. Leyten ; J. J. Martin ; Johannes L. J. M. Teepen ; Raymund A. C. RoosSource :
- Movement Disorders [ 0885-3185 ] ; 2002-05.
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- 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.
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DOI: 10.1002/mds.10104
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<affiliation xml:id="af2" countryCode="NL" type="organization"><unparsedAffiliation>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</unparsedAffiliation>
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<affiliation xml:id="af3" countryCode="BE" type="organization"><unparsedAffiliation>Born‐Bunge Foundation and University of Antwerp, Antwerp, Belgium</unparsedAffiliation>
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<affiliation xml:id="af4" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</unparsedAffiliation>
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<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">neuronal ceroid lipofuscinosis</keyword>
<keyword xml:id="kwd2">parkinsonism</keyword>
<keyword xml:id="kwd3">myoclonus</keyword>
<keyword xml:id="kwd4">autosomal dominant</keyword>
<keyword xml:id="kwd5"><sup>123</sup>
I‐IBZM SPECT</keyword>
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<abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title>
<p>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. <sup>123</sup>
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. © 2002 Movement Disorder Society.</p>
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<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction</title>
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<name type="personal"><namePart type="given">Peter C.G.</namePart>
<namePart type="family">Nijssen</namePart>
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<affiliation>Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation>
<description>Correspondence: St. Elisabeth Hospital, Hilvarenbeekseweg 60, P.O. Box 90151, 5000 LC Tilburg, The Netherlands</description>
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<name type="personal"><namePart type="given">Esther</namePart>
<namePart type="family">Brusse</namePart>
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<name type="personal"><namePart type="given">J.J.</namePart>
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<name type="personal"><namePart type="given">Johannes L.J.M.</namePart>
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<affiliation>Department of Pathology, St. Elisabeth Hospital, Tilburg, The Netherlands</affiliation>
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<name type="personal"><namePart type="given">Raymund A.C.</namePart>
<namePart type="family">Roos</namePart>
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<abstract 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.</abstract>
<subject lang="en"><genre>Keywords</genre>
<topic>neuronal ceroid lipofuscinosis</topic>
<topic>parkinsonism</topic>
<topic>myoclonus</topic>
<topic>autosomal dominant</topic>
<topic>123I‐IBZM SPECT</topic>
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<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
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<topic>Research Article</topic>
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<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2002</date>
<detail type="volume"><caption>vol.</caption>
<number>17</number>
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