Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred
Identifieur interne : 001611 ( PascalFrancis/Corpus ); précédent : 001610; suivant : 001612Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred
Auteurs : Andrew Mckeon ; Laurie J. Ozelius ; Oria Hardiman ; Matthew J. Greenway ; Sean J. PittockSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na+/K+ -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na+/K+ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
pA |
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Format Inist (serveur)
NO : | PASCAL 07-0391085 INIST |
---|---|
ET : | Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred |
AU : | MCKEON (Andrew); OZELIUS (Laurie J.); HARDIMAN (Oria); GREENWAY (Matthew J.); PITTOCK (Sean J.) |
AF : | Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland/Dublin/Irlande (1 aut., 3 aut., 4 aut., 5 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (2 aut.); Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine/Rochester, Minnesota/Etats-Unis (5 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1325-1327; Bibl. 12 ref. |
LA : | Anglais |
EA : | The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na+/K+ -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na+/K+ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia. |
CC : | 002B17; 002B17H; 002B17G |
FD : | Système nerveux pathologie; Dystonie; Parkinsonisme; Hétérogénéité; Pronostic; Mutation |
FG : | Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie |
ED : | Nervous system diseases; Dystonia; Parkinsonism; Heterogeneity; Prognosis; Mutation |
EG : | Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease |
SD : | Sistema nervioso patología; Distonía; Parkinson síndrome; Heterogeneidad; Pronóstico; Mutación |
LO : | INIST-20953.354000146732490180 |
ID : | 07-0391085 |
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Pascal:07-0391085Le document en format XML
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<front><div type="abstract" xml:lang="en">The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na<sup>+</sup>
/K<sup>+</sup>
-ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na<sup>+</sup>
/K<sup>+</sup>
ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.</div>
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-ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na<sup>+</sup>
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<server><NO>PASCAL 07-0391085 INIST</NO>
<ET>Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred</ET>
<AU>MCKEON (Andrew); OZELIUS (Laurie J.); HARDIMAN (Oria); GREENWAY (Matthew J.); PITTOCK (Sean J.)</AU>
<AF>Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland/Dublin/Irlande (1 aut., 3 aut., 4 aut., 5 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (2 aut.); Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine/Rochester, Minnesota/Etats-Unis (5 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1325-1327; Bibl. 12 ref.</SO>
<LA>Anglais</LA>
<EA>The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na<sup>+</sup>
/K<sup>+</sup>
-ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na<sup>+</sup>
/K<sup>+</sup>
ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.</EA>
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<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Distonía; Parkinson síndrome; Heterogeneidad; Pronóstico; Mutación</SD>
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