MovDisordV3, PascalFrancis, Corpus, bibRecord, 000D37

Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond

Identifieur interne : 000D37 ( PascalFrancis/Corpus ); précédent : 000D36; suivant : 000D38

Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond

Auteurs : Christine Klein ; Susanne A. Schneider ; Anthony E. Lang

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0482364

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Maladie de Parkinson, Dystonie, Pathologie du système nerveux, Algorithme, Classification.

English descriptors

KwdEn :
- Algorithm, Classification, Dystonia, Nervous system diseases, Parkinson disease, Parkinsonism.

Abstract

In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTLI, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 KLEIN (Christine)`
A11	`02`	`1`		`@1 SCHNEIDER (Susanne A.)`
A11	`03`	`1`		`@1 LANG (Anthony E.)`
A14	`01`			`@1 Department of Neurology, University of Lübeck @2 Lüheck @3 DEU @Z 1 aut. @Z 2 aut.`
A14	`02`			`@1 Department of Neurology, Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital @2 Toronto @3 CAN @Z 1 aut. @Z 3 aut.`
A14	`03`			`@1 Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square @2 London @3 GBR @Z 2 aut.`
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A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTLI, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions.
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C03	`06`	`X`	`FRE`	`@0 Classification @5 10`
C03	`06`	`X`	`ENG`	`@0 Classification @5 10`
C03	`06`	`X`	`SPA`	`@0 Clasificación @5 10`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 38`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 38`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 38`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 39`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 39`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 39`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 40`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 40`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 40`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 41`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
C07	`05`	`X`	`FRE`	`@0 Mouvement involontaire @5 42`
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C07	`06`	`X`	`ENG`	`@0 Striated muscle disease @5 43`
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C07	`07`	`X`	`FRE`	`@0 Trouble neurologique @5 44`
C07	`07`	`X`	`ENG`	`@0 Neurological disorder @5 44`
C07	`07`	`X`	`SPA`	`@0 Trastorno neurológico @5 44`
N21				`@1 348`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0482364 INIST
ET :	Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond
AU :	KLEIN (Christine); SCHNEIDER (Susanne A.); LANG (Anthony E.)
AF :	Department of Neurology, University of Lübeck/Lüheck/Allemagne (1 aut., 2 aut.); Department of Neurology, Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital/Toronto/Canada (1 aut., 3 aut.); Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square/London/Royaume-Uni (2 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 14; Pp. 2042-2058; Bibl. 186 ref.
LA :	Anglais
EA :	In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTLI, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions.
CC :	002B17; 002B17G
FD :	Parkinsonisme; Maladie de Parkinson; Dystonie; Pathologie du système nerveux; Algorithme; Classification
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique
ED :	Parkinsonism; Parkinson disease; Dystonia; Nervous system diseases; Algorithm; Classification
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Involuntary movement; Striated muscle disease; Neurological disorder
SD :	Parkinson síndrome; Parkinson enfermedad; Distonía; Sistema nervioso patología; Algoritmo; Clasificación
LO :	INIST-20953.354000171427050020
ID :	09-0482364

Links to Exploration step

Pascal:09-0482364

Le document en format XML

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<front><div type="abstract" xml:lang="en">In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTLI, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions.</div>
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<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Clasificación</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>44</s5>
</fC07>
<fN21><s1>348</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 09-0482364 INIST</NO>
<ET>Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond</ET>
<AU>KLEIN (Christine); SCHNEIDER (Susanne A.); LANG (Anthony E.)</AU>
<AF>Department of Neurology, University of Lübeck/Lüheck/Allemagne (1 aut., 2 aut.); Department of Neurology, Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital/Toronto/Canada (1 aut., 3 aut.); Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square/London/Royaume-Uni (2 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 14; Pp. 2042-2058; Bibl. 186 ref.</SO>
<LA>Anglais</LA>
<EA>In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTLI, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions.</EA>
<CC>002B17; 002B17G</CC>
<FD>Parkinsonisme; Maladie de Parkinson; Dystonie; Pathologie du système nerveux; Algorithme; Classification</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique</FG>
<ED>Parkinsonism; Parkinson disease; Dystonia; Nervous system diseases; Algorithm; Classification</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Involuntary movement; Striated muscle disease; Neurological disorder</EG>
<SD>Parkinson síndrome; Parkinson enfermedad; Distonía; Sistema nervioso patología; Algoritmo; Clasificación</SD>
<LO>INIST-20953.354000171427050020</LO>
<ID>09-0482364</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond

Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond

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