Recurrent dystonia in homocystinuria : A metabolic pathogenesis
Identifieur interne : 001931 ( PascalFrancis/Corpus ); précédent : 001930; suivant : 001932Recurrent dystonia in homocystinuria : A metabolic pathogenesis
Auteurs : Alex J. Sinclair ; Lucy Barling ; Simon NightingaleSource :
- Movement disorders [ 0885-3185 ] ; 2006.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
pA |
|
---|
Format Inist (serveur)
NO : | PASCAL 06-0538611 INIST |
---|---|
ET : | Recurrent dystonia in homocystinuria : A metabolic pathogenesis |
AU : | SINCLAIR (Alex J.); BARLING (Lucy); NIGHTINGALE (Simon) |
AF : | Department of Neurology, Queen Elizabeth Hospital/Birmingham/Royaume-Uni (1 aut., 3 aut.); Department of Neurology, Royal Shrewsbury Hospital/Shropshire/Royaume-Uni (2 aut., 3 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 10; Pp. 1780-1782; Bibl. 16 ref. |
LA : | Anglais |
EA : | Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria. |
CC : | 002B17; 002B17H; 002B17A01 |
FD : | Système nerveux pathologie; Dystonie; Homocystinurie; Récidivant; Pathogénie |
FG : | Encéphale pathologie; Métabolisme pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Aminoacidopathie; Enzymopathie; Maladie héréditaire; Système nerveux central pathologie |
ED : | Nervous system diseases; Dystonia; Homocystinuria; Recurrent; Pathogenesis |
EG : | Cerebral disorder; Metabolic diseases; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Aminoacid disorder; Enzymopathy; Genetic disease; Central nervous system disease |
SD : | Sistema nervioso patología; Distonía; Homocistinuria; Recidivante; Patogenia |
LO : | INIST-20953.354000158877800410 |
ID : | 06-0538611 |
Links to Exploration step
Pascal:06-0538611Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Recurrent dystonia in homocystinuria : A metabolic pathogenesis</title>
<author><name sortKey="Sinclair, Alex J" sort="Sinclair, Alex J" uniqKey="Sinclair A" first="Alex J." last="Sinclair">Alex J. Sinclair</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Queen Elizabeth Hospital</s1>
<s2>Birmingham</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Barling, Lucy" sort="Barling, Lucy" uniqKey="Barling L" first="Lucy" last="Barling">Lucy Barling</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Royal Shrewsbury Hospital</s1>
<s2>Shropshire</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Nightingale, Simon" sort="Nightingale, Simon" uniqKey="Nightingale S" first="Simon" last="Nightingale">Simon Nightingale</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Queen Elizabeth Hospital</s1>
<s2>Birmingham</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Royal Shrewsbury Hospital</s1>
<s2>Shropshire</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0538611</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 06-0538611 INIST</idno>
<idno type="RBID">Pascal:06-0538611</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001931</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Recurrent dystonia in homocystinuria : A metabolic pathogenesis</title>
<author><name sortKey="Sinclair, Alex J" sort="Sinclair, Alex J" uniqKey="Sinclair A" first="Alex J." last="Sinclair">Alex J. Sinclair</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Queen Elizabeth Hospital</s1>
<s2>Birmingham</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Barling, Lucy" sort="Barling, Lucy" uniqKey="Barling L" first="Lucy" last="Barling">Lucy Barling</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Royal Shrewsbury Hospital</s1>
<s2>Shropshire</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Nightingale, Simon" sort="Nightingale, Simon" uniqKey="Nightingale S" first="Simon" last="Nightingale">Simon Nightingale</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Queen Elizabeth Hospital</s1>
<s2>Birmingham</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Royal Shrewsbury Hospital</s1>
<s2>Shropshire</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Homocystinuria</term>
<term>Nervous system diseases</term>
<term>Pathogenesis</term>
<term>Recurrent</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Dystonie</term>
<term>Homocystinurie</term>
<term>Récidivant</term>
<term>Pathogénie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>21</s2>
</fA05>
<fA06><s2>10</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Recurrent dystonia in homocystinuria : A metabolic pathogenesis</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>SINCLAIR (Alex J.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>BARLING (Lucy)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>NIGHTINGALE (Simon)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Queen Elizabeth Hospital</s1>
<s2>Birmingham</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Neurology, Royal Shrewsbury Hospital</s1>
<s2>Shropshire</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA20><s1>1780-1782</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000158877800410</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>16 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0538611</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A01</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Distonía</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Homocystinurie</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Homocystinuria</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Homocistinuria</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Récidivant</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Recurrent</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Recidivante</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Pathogénie</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Pathogenesis</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Patogenia</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Aminoacidopathie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Aminoacid disorder</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Aminoacido alteración</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>45</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>46</s5>
</fC07>
<fN21><s1>353</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 06-0538611 INIST</NO>
<ET>Recurrent dystonia in homocystinuria : A metabolic pathogenesis</ET>
<AU>SINCLAIR (Alex J.); BARLING (Lucy); NIGHTINGALE (Simon)</AU>
<AF>Department of Neurology, Queen Elizabeth Hospital/Birmingham/Royaume-Uni (1 aut., 3 aut.); Department of Neurology, Royal Shrewsbury Hospital/Shropshire/Royaume-Uni (2 aut., 3 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 10; Pp. 1780-1782; Bibl. 16 ref.</SO>
<LA>Anglais</LA>
<EA>Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.</EA>
<CC>002B17; 002B17H; 002B17A01</CC>
<FD>Système nerveux pathologie; Dystonie; Homocystinurie; Récidivant; Pathogénie</FD>
<FG>Encéphale pathologie; Métabolisme pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Aminoacidopathie; Enzymopathie; Maladie héréditaire; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Dystonia; Homocystinuria; Recurrent; Pathogenesis</ED>
<EG>Cerebral disorder; Metabolic diseases; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Aminoacid disorder; Enzymopathy; Genetic disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Distonía; Homocistinuria; Recidivante; Patogenia</SD>
<LO>INIST-20953.354000158877800410</LO>
<ID>06-0538611</ID>
</server>
</inist>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001931 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 001931 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PascalFrancis |étape= Corpus |type= RBID |clé= Pascal:06-0538611 |texte= Recurrent dystonia in homocystinuria : A metabolic pathogenesis }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |