Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia
Identifieur interne : 001B56 ( Main/Exploration ); précédent : 001B55; suivant : 001B57Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia
Auteurs : Szu-Chia Lai ; Shih-Ming Jung [Taïwan] ; Padraic Grattan-Smith [Australie] ; Ella Sugo [Australie] ; Yen-Wen Lin [Taïwan] ; Rou-Shayn Chen ; Chiung-Chu Chen ; Yah-Huei Wu-Chou [Taïwan] ; Anthony E. Lang [Canada] ; Chin-Song LuSource :
- Movement Disorders [ 0885-3185 ] ; 2010-07-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Taïwan.
English descriptors
- KwdEn :
- Adolescent, Antiparkinson Agents (adverse effects), Biopsy, Child, Deep brain stimulation, Dopa, Dyskinesia, Dyskinesia, Drug-Induced (etiology), Dyskinesia, Drug-Induced (pathology), Female, Humans, Inclusion, Intranuclear Inclusion Bodies (metabolism), Intranuclear Inclusion Bodies (pathology), Levodopa (adverse effects), Male, Nervous system diseases, Neurons (metabolism), Neurons (pathology), Oculogyric crisis, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (pathology), Parkinsonism, Peptides (metabolism), Rectum, Taiwan, Ubiquitin (metabolism), deep brain stimulation, dopa‐induced dyskinesia, juvenile parkinsonism, neuronal intranuclear inclusion disease, oculogyric crisis, rectal biopsy.
- MESH :
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- chemical , metabolism : Ubiquitin.
- geographic : Taiwan.
- drug therapy : Parkinsonian Disorders.
- etiology : Dyskinesia, Drug-Induced.
- metabolism : Intranuclear Inclusion Bodies, Neurons, Peptides.
- pathology : Dyskinesia, Drug-Induced, Intranuclear Inclusion Bodies, Neurons, Parkinsonian Disorders.
- Adolescent, Child, Female, Humans, Male.
Abstract
There are very few conditions that present with dopa‐responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa‐induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze‐evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.22876
Affiliations:
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Le document en format XML
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<term>Deep brain stimulation</term>
<term>Dopa</term>
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<term>Dyskinesia, Drug-Induced (etiology)</term>
<term>Dyskinesia, Drug-Induced (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Inclusion</term>
<term>Intranuclear Inclusion Bodies (metabolism)</term>
<term>Intranuclear Inclusion Bodies (pathology)</term>
<term>Levodopa (adverse effects)</term>
<term>Male</term>
<term>Nervous system diseases</term>
<term>Neurons (metabolism)</term>
<term>Neurons (pathology)</term>
<term>Oculogyric crisis</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (pathology)</term>
<term>Parkinsonism</term>
<term>Peptides (metabolism)</term>
<term>Rectum</term>
<term>Taiwan</term>
<term>Ubiquitin (metabolism)</term>
<term>deep brain stimulation</term>
<term>dopa‐induced dyskinesia</term>
<term>juvenile parkinsonism</term>
<term>neuronal intranuclear inclusion disease</term>
<term>oculogyric crisis</term>
<term>rectal biopsy</term>
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<term>Peptides</term>
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<front><div type="abstract" xml:lang="en">There are very few conditions that present with dopa‐responsive juvenile parkinsonism. We present two such children with neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response that was soon complicated by disabling dopa‐induced dyskinesia. One child was diagnosed by rectal biopsy in life, and the other diagnosis was confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of the radiotracer in the striatum on both sides. Bilateral subthalamic deep brain stimulation in this patient produced initial improvement, but this was not sustained. Both patients died within 10 years of symptom onset. As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze‐evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises. Differential diagnosis of clinical symptoms and neuropathological findings are discussed including the approach to rectal biopsy for early diagnosis. © 2010 Movement Disorder Society</div>
</front>
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<name sortKey="Lai, Szu Hia" sort="Lai, Szu Hia" uniqKey="Lai S" first="Szu-Chia" last="Lai">Szu-Chia Lai</name>
<name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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<country name="Taïwan"><noRegion><name sortKey="Jung, Shih Ing" sort="Jung, Shih Ing" uniqKey="Jung S" first="Shih-Ming" last="Jung">Shih-Ming Jung</name>
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<name sortKey="Wu Hou, Yah Uei" sort="Wu Hou, Yah Uei" uniqKey="Wu Hou Y" first="Yah-Huei" last="Wu-Chou">Yah-Huei Wu-Chou</name>
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<country name="Australie"><noRegion><name sortKey="Grattan Mith, Padraic" sort="Grattan Mith, Padraic" uniqKey="Grattan Mith P" first="Padraic" last="Grattan-Smith">Padraic Grattan-Smith</name>
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<country name="Canada"><region name="Ontario"><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
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