MovDisordV3, PascalFrancis, Corpus, bibRecord, 002727

Possible sporadic rapid-onset dystonia-parkinsonism

Identifieur interne : 002727 ( PascalFrancis/Corpus ); précédent : 002726; suivant : 002728

Possible sporadic rapid-onset dystonia-parkinsonism

Auteurs : Gurutz Linazasoro ; Begona Indakoetxea ; Javier Ruiz ; Nadege Van Blercom ; Asier Lasa

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0369777

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Dystonie, Antécédent, Temps établissement, Sporadique, Etude cas, Diagnostic, Adulte, Femelle.

English descriptors

KwdEn :
- Adult, Antecedent, Case study, Diagnosis, Dystonia, Female, Onset time, Parkinsonism, Sporadic.

Abstract

Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 LINAZASORO (Gurutz)`
A11	`02`	`1`		`@1 INDAKOETXEA (Begona)`
A11	`03`	`1`		`@1 RUIZ (Javier)`
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A11	`05`	`1`		`@1 LASA (Asier)`
A14	`01`			`@1 Centro de Neurologia y Neurocirugia, Clinica Quirön @2 San Sebastián @3 ESP @Z 1 aut. @Z 4 aut. @Z 5 aut.`
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C01	`01`		`ENG`	@0 Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.
C02	`01`	`X`		`@0 002B17A01`
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C03	`03`	`X`	`SPA`	`@0 Antecedente @5 07`
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C07	`02`	`X`	`FRE`	`@0 Maladie héréditaire @5 37`
C07	`02`	`X`	`ENG`	`@0 Genetic disease @5 37`
C07	`02`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 37`
C07	`03`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 38`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
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C07	`08`	`X`	`FRE`	`@0 Mouvement involontaire @5 48`
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C07	`09`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 49`
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C07	`09`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 49`
N21				`@1 203`
N82				`@1 PSI`

Format Inist (serveur)

NO :	PASCAL 02-0369777 INIST
ET :	Possible sporadic rapid-onset dystonia-parkinsonism
AU :	LINAZASORO (Gurutz); INDAKOETXEA (Begona); RUIZ (Javier); VAN BLERCOM (Nadege); LASA (Asier)
AF :	Centro de Neurologia y Neurocirugia, Clinica Quirön/San Sebastián/Espagne (1 aut., 4 aut., 5 aut.); Servicio de Neurologia, Hospital Aranzaxzu/San Sebastián/Espagne (2 aut.); Servicio de Neurologia, Hospital de Mendaro/San Sebastián/Espagne (3 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 3; Pp. 608-609; Bibl. 12 ref.
LA :	Anglais
EA :	Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.
CC :	002B17A01
FD :	Parkinsonisme; Dystonie; Antécédent; Temps établissement; Sporadique; Etude cas; Diagnostic; Adulte; Femelle
FG :	Homme; Maladie héréditaire; Système nerveux central pathologie; Encéphale pathologie; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome
ED :	Parkinsonism; Dystonia; Antecedent; Onset time; Sporadic; Case study; Diagnosis; Adult; Female
EG :	Human; Genetic disease; Central nervous system disease; Cerebral disorder; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome
SD :	Parkinson síndrome; Distonía; Antecedente; Tiempo establecimiento; Esporádico; Estudio caso; Diagnóstico; Adulto; Hembra
LO :	INIST-20953.354000108224770310
ID :	02-0369777

Links to Exploration step

Pascal:02-0369777

Le document en format XML

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<front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.</div>
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<fC03 i1="07" i2="X" l="FRE"><s0>Diagnostic</s0>
<s5>18</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Diagnosis</s0>
<s5>18</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Diagnóstico</s0>
<s5>18</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Adulte</s0>
<s5>20</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Adult</s0>
<s5>20</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Adulto</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Femelle</s0>
<s5>21</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Female</s0>
<s5>21</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Hembra</s0>
<s5>21</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>45</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>45</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>45</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>46</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>46</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>46</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>47</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>47</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>47</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>48</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>48</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>48</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>49</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>49</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>49</s5>
</fC07>
<fN21><s1>203</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0369777 INIST</NO>
<ET>Possible sporadic rapid-onset dystonia-parkinsonism</ET>
<AU>LINAZASORO (Gurutz); INDAKOETXEA (Begona); RUIZ (Javier); VAN BLERCOM (Nadege); LASA (Asier)</AU>
<AF>Centro de Neurologia y Neurocirugia, Clinica Quirön/San Sebastián/Espagne (1 aut., 4 aut., 5 aut.); Servicio de Neurologia, Hospital Aranzaxzu/San Sebastián/Espagne (2 aut.); Servicio de Neurologia, Hospital de Mendaro/San Sebastián/Espagne (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 3; Pp. 608-609; Bibl. 12 ref.</SO>
<LA>Anglais</LA>
<EA>Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.</EA>
<CC>002B17A01</CC>
<FD>Parkinsonisme; Dystonie; Antécédent; Temps établissement; Sporadique; Etude cas; Diagnostic; Adulte; Femelle</FD>
<FG>Homme; Maladie héréditaire; Système nerveux central pathologie; Encéphale pathologie; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome</FG>
<ED>Parkinsonism; Dystonia; Antecedent; Onset time; Sporadic; Case study; Diagnosis; Adult; Female</ED>
<EG>Human; Genetic disease; Central nervous system disease; Cerebral disorder; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome</EG>
<SD>Parkinson síndrome; Distonía; Antecedente; Tiempo establecimiento; Esporádico; Estudio caso; Diagnóstico; Adulto; Hembra</SD>
<LO>INIST-20953.354000108224770310</LO>
<ID>02-0369777</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Possible sporadic rapid-onset dystonia-parkinsonism

Possible sporadic rapid-onset dystonia-parkinsonism

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