Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
Identifieur interne : 001682 ( PascalFrancis/Corpus ); précédent : 001681; suivant : 001683Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
Auteurs : David R. Williams ; Alan M. Pittman ; Tamas Revesz ; Andrew J. Lees ; Rohan De SilvaSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
A number of different clinical syndromes have been associated with progressive supranuclear (PSP) tau pathology. Previous reports have suggested that atypical clinical phenotypes of PSP occur in familial disease, and might be associated with mutations of MAPT. We examined the association of PSP-susceptibility tau haplotypes in pathologically diagnosed PSP, separated according to initial clinical features into classic PSP and atypical PSP groups (PSP-Parkinsonism, PSP-P). These patients were screened for mutations in exons 1 and 10 of MAPT. No mutations were found in 75 patients (21 PSP-P), and H1c was associated with both Richardson's syndrome and PSP-P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 07-0263075 INIST |
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ET : | Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy |
AU : | WILLIAMS (David R.); PITTMAN (Alan M.); REVESZ (Tamas); LEES (Andrew J.); DE SILVA (Rohan) |
AF : | The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square/London/Royaume-Uni (1 aut., 3 aut., 4 aut.); Reta Lila Weston Institute of Neurological Studies, University College London/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 5 aut.); Sarah Koe PSP Research Centre/London/Royaume-Uni (1 aut., 5 aut.); Institute of Neurology, University College London/London/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. 2007; Vol. 22; No. 6; Pp. 895-897; Bibl. 13 ref. |
LA : | Anglais |
EA : | A number of different clinical syndromes have been associated with progressive supranuclear (PSP) tau pathology. Previous reports have suggested that atypical clinical phenotypes of PSP occur in familial disease, and might be associated with mutations of MAPT. We examined the association of PSP-susceptibility tau haplotypes in pathologically diagnosed PSP, separated according to initial clinical features into classic PSP and atypical PSP groups (PSP-Parkinsonism, PSP-P). These patients were screened for mutations in exons 1 and 10 of MAPT. No mutations were found in 75 patients (21 PSP-P), and H1c was associated with both Richardson's syndrome and PSP-P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended. |
CC : | 002B17; 002B17G; 002B17D |
FD : | Système nerveux pathologie; Parkinsonisme; Locus |
ED : | Nervous system diseases; Parkinsonism; Locus |
SD : | Sistema nervioso patología; Parkinson síndrome; Locus |
LO : | INIST-20953.354000149445250260 |
ID : | 07-0263075 |
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<AF>The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square/London/Royaume-Uni (1 aut., 3 aut., 4 aut.); Reta Lila Weston Institute of Neurological Studies, University College London/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 5 aut.); Sarah Koe PSP Research Centre/London/Royaume-Uni (1 aut., 5 aut.); Institute of Neurology, University College London/London/Royaume-Uni (2 aut., 3 aut.)</AF>
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