MovDisordV3, Main, Merge, bibRecord, 001F92

Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia

Identifieur interne : 001F92 ( Main/Merge ); précédent : 001F91; suivant : 001F93

Neuronal 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 Lu

Source :

Movement Disorders [ 0885-3185 ] ; 2010-07-15.

RBID : ISTEX:70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E

Descripteurs français

Wicri :
- geographic : Taïwan.

English descriptors

KwdEn :
- Adolescent, Antiparkinson Agents (adverse effects), Child, Dyskinesia, Drug-Induced (etiology), Dyskinesia, Drug-Induced (pathology), Female, Humans, Intranuclear Inclusion Bodies (metabolism), Intranuclear Inclusion Bodies (pathology), Levodopa (adverse effects), Male, Neurons (metabolism), Neurons (pathology), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (pathology), Peptides (metabolism), 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:

https://api.istex.fr/document/70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E/fulltext/pdf

DOI: 10.1002/mds.22876

Links to Exploration step

ISTEX:70C57C0A925EAD33EB5C89EC65C1B3ED5BE4A46E

Le document en format XML

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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>
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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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<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia.</title>
<author><name sortKey="Lai, Szu Chia" sort="Lai, Szu Chia" uniqKey="Lai S" first="Szu-Chia" last="Lai">Szu-Chia Lai</name>
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<author><name sortKey="Jung, Shih Ming" sort="Jung, Shih Ming" uniqKey="Jung S" first="Shih-Ming" last="Jung">Shih-Ming Jung</name>
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<author><name sortKey="Grattan Smith, Padraic" sort="Grattan Smith, Padraic" uniqKey="Grattan Smith P" first="Padraic" last="Grattan-Smith">Padraic Grattan-Smith</name>
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<author><name sortKey="Lin, Yen Wen" sort="Lin, Yen Wen" uniqKey="Lin Y" first="Yen-Wen" last="Lin">Yen-Wen Lin</name>
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<author><name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
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<author><name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name>
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<author><name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu-Chou">Yah-Huei Wu-Chou</name>
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<author><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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<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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<author><name sortKey="Jung, Shih Ming" sort="Jung, Shih Ming" uniqKey="Jung S" first="Shih-Ming" last="Jung">Shih-Ming Jung</name>
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<author><name sortKey="Grattan Smith, Padraic" sort="Grattan Smith, Padraic" uniqKey="Grattan Smith P" first="Padraic" last="Grattan-Smith">Padraic Grattan-Smith</name>
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<author><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name>
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<author><name sortKey="Lin, Yen Wen" sort="Lin, Yen Wen" uniqKey="Lin Y" first="Yen-Wen" last="Lin">Yen-Wen Lin</name>
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<author><name sortKey="Chen, Rou Shayn" sort="Chen, Rou Shayn" uniqKey="Chen R" first="Rou-Shayn" last="Chen">Rou-Shayn Chen</name>
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<author><name sortKey="Chen, Chiung Chu" sort="Chen, Chiung Chu" uniqKey="Chen C" first="Chiung-Chu" last="Chen">Chiung-Chu Chen</name>
</author>
<author><name sortKey="Wu Chou, Yah Huei" sort="Wu Chou, Yah Huei" uniqKey="Wu Chou Y" first="Yah-Huei" last="Wu-Chou">Yah-Huei Wu-Chou</name>
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<author><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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<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<imprint><date when="2010" type="published">2010</date>
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<term>Dyskinesia, Drug-Induced (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Intranuclear Inclusion Bodies (metabolism)</term>
<term>Intranuclear Inclusion Bodies (pathology)</term>
<term>Levodopa (adverse effects)</term>
<term>Male</term>
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<term>Neurons (pathology)</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (pathology)</term>
<term>Peptides (metabolism)</term>
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<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Intranuclear Inclusion Bodies</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.</div>
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Movement Disorders (revue)

Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia

Neuronal intranuclear inclusion disease: Two cases of dopa‐responsive juvenile parkinsonism with drug‐induced dyskinesia

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