Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond
Identifieur interne : 000D37 ( PascalFrancis/Corpus ); précédent : 000D36; suivant : 000D38Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond
Auteurs : Christine Klein ; Susanne A. Schneider ; Anthony E. LangSource :
- Movement disorders [ 0885-3185 ] ; 2009.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
pA |
|
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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 |
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Pascal:09-0482364Le document en format XML
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<ET>Hereditary Parkinsonism: Parkinson Disease Look-Alikes: An Algorithm for Clinicians to "PARK" Genes and Beyond</ET>
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<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>
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