Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)

Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Winblad, Stefan [verfasserIn] Lindberg, Christopher Hansen, Stefan

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2006

Schlagwörter:	Fluid Intelligence Wisconsin Card Sort Test Myotonic Dystrophy Type Normative Collective DMPK Gene

Anmerkung:	© Winblad et al; licensee BioMed Central Ltd. 2006

Übergeordnetes Werk:	Enthalten in: Behavioral and brain functions - London : BioMed Central, 2005, 2(2006), 1 vom: 15. Mai
Übergeordnetes Werk:	volume:2 ; year:2006 ; number:1 ; day:15 ; month:05

Links:	Volltext

DOI / URN:	10.1186/1744-9081-2-16

Katalog-ID:	SPR029338700

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520			\|a Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1.
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allfields	10.1186/1744-9081-2-16 doi (DE-627)SPR029338700 (SPR)1744-9081-2-16-e DE-627 ger DE-627 rakwb eng Winblad, Stefan verfasserin aut Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1) 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Winblad et al; licensee BioMed Central Ltd. 2006 Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. Fluid Intelligence (dpeaa)DE-He213 Wisconsin Card Sort Test (dpeaa)DE-He213 Myotonic Dystrophy Type (dpeaa)DE-He213 Normative Collective (dpeaa)DE-He213 DMPK Gene (dpeaa)DE-He213 Lindberg, Christopher aut Hansen, Stefan aut Enthalten in Behavioral and brain functions London : BioMed Central, 2005 2(2006), 1 vom: 15. Mai (DE-627)484836994 (DE-600)2185773-8 1744-9081 nnns volume:2 year:2006 number:1 day:15 month:05 https://dx.doi.org/10.1186/1744-9081-2-16 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2006 1 15 05
spelling	10.1186/1744-9081-2-16 doi (DE-627)SPR029338700 (SPR)1744-9081-2-16-e DE-627 ger DE-627 rakwb eng Winblad, Stefan verfasserin aut Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1) 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Winblad et al; licensee BioMed Central Ltd. 2006 Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. Fluid Intelligence (dpeaa)DE-He213 Wisconsin Card Sort Test (dpeaa)DE-He213 Myotonic Dystrophy Type (dpeaa)DE-He213 Normative Collective (dpeaa)DE-He213 DMPK Gene (dpeaa)DE-He213 Lindberg, Christopher aut Hansen, Stefan aut Enthalten in Behavioral and brain functions London : BioMed Central, 2005 2(2006), 1 vom: 15. Mai (DE-627)484836994 (DE-600)2185773-8 1744-9081 nnns volume:2 year:2006 number:1 day:15 month:05 https://dx.doi.org/10.1186/1744-9081-2-16 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2006 1 15 05
allfields_unstemmed	10.1186/1744-9081-2-16 doi (DE-627)SPR029338700 (SPR)1744-9081-2-16-e DE-627 ger DE-627 rakwb eng Winblad, Stefan verfasserin aut Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1) 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Winblad et al; licensee BioMed Central Ltd. 2006 Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. Fluid Intelligence (dpeaa)DE-He213 Wisconsin Card Sort Test (dpeaa)DE-He213 Myotonic Dystrophy Type (dpeaa)DE-He213 Normative Collective (dpeaa)DE-He213 DMPK Gene (dpeaa)DE-He213 Lindberg, Christopher aut Hansen, Stefan aut Enthalten in Behavioral and brain functions London : BioMed Central, 2005 2(2006), 1 vom: 15. Mai (DE-627)484836994 (DE-600)2185773-8 1744-9081 nnns volume:2 year:2006 number:1 day:15 month:05 https://dx.doi.org/10.1186/1744-9081-2-16 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2006 1 15 05
allfieldsGer	10.1186/1744-9081-2-16 doi (DE-627)SPR029338700 (SPR)1744-9081-2-16-e DE-627 ger DE-627 rakwb eng Winblad, Stefan verfasserin aut Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1) 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Winblad et al; licensee BioMed Central Ltd. 2006 Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. Fluid Intelligence (dpeaa)DE-He213 Wisconsin Card Sort Test (dpeaa)DE-He213 Myotonic Dystrophy Type (dpeaa)DE-He213 Normative Collective (dpeaa)DE-He213 DMPK Gene (dpeaa)DE-He213 Lindberg, Christopher aut Hansen, Stefan aut Enthalten in Behavioral and brain functions London : BioMed Central, 2005 2(2006), 1 vom: 15. Mai (DE-627)484836994 (DE-600)2185773-8 1744-9081 nnns volume:2 year:2006 number:1 day:15 month:05 https://dx.doi.org/10.1186/1744-9081-2-16 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2006 1 15 05
allfieldsSound	10.1186/1744-9081-2-16 doi (DE-627)SPR029338700 (SPR)1744-9081-2-16-e DE-627 ger DE-627 rakwb eng Winblad, Stefan verfasserin aut Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1) 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Winblad et al; licensee BioMed Central Ltd. 2006 Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. Fluid Intelligence (dpeaa)DE-He213 Wisconsin Card Sort Test (dpeaa)DE-He213 Myotonic Dystrophy Type (dpeaa)DE-He213 Normative Collective (dpeaa)DE-He213 DMPK Gene (dpeaa)DE-He213 Lindberg, Christopher aut Hansen, Stefan aut Enthalten in Behavioral and brain functions London : BioMed Central, 2005 2(2006), 1 vom: 15. Mai (DE-627)484836994 (DE-600)2185773-8 1744-9081 nnns volume:2 year:2006 number:1 day:15 month:05 https://dx.doi.org/10.1186/1744-9081-2-16 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2006 1 15 05
language	English
source	Enthalten in Behavioral and brain functions 2(2006), 1 vom: 15. Mai volume:2 year:2006 number:1 day:15 month:05
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topic_facet	Fluid Intelligence Wisconsin Card Sort Test Myotonic Dystrophy Type Normative Collective DMPK Gene
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container_title	Behavioral and brain functions
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Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. 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author	Winblad, Stefan
spellingShingle	Winblad, Stefan misc Fluid Intelligence misc Wisconsin Card Sort Test misc Myotonic Dystrophy Type misc Normative Collective misc DMPK Gene Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
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topic_title	Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1) Fluid Intelligence (dpeaa)DE-He213 Wisconsin Card Sort Test (dpeaa)DE-He213 Myotonic Dystrophy Type (dpeaa)DE-He213 Normative Collective (dpeaa)DE-He213 DMPK Gene (dpeaa)DE-He213
topic	misc Fluid Intelligence misc Wisconsin Card Sort Test misc Myotonic Dystrophy Type misc Normative Collective misc DMPK Gene
topic_unstemmed	misc Fluid Intelligence misc Wisconsin Card Sort Test misc Myotonic Dystrophy Type misc Normative Collective misc DMPK Gene
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title	Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
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title_full	Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
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title_sort	cognitive deficits and ctg repeat expansion size in classical myotonic dystrophy type 1 (dm1)
title_auth	Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
abstract	Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. © Winblad et al; licensee BioMed Central Ltd. 2006
abstractGer	Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. © Winblad et al; licensee BioMed Central Ltd. 2006
abstract_unstemmed	Background This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size. Methods A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data. Results A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes. Conclusion This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1. © Winblad et al; licensee BioMed Central Ltd. 2006
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title_short	Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
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Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)

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