RT Journal Article
T1 Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1
A1 Sistiaga, Andone
A1 Urreta, Iratxe
A1 Jodar, Merce
A1 Cobo, Ana María
A1 Emparanza, José
A1 Otaegui, David
A1 Poza, Juan José
A1 Merino Martín, José Joaquín
A1 Imaz, Harkaitz
A1 Martí-Massó, José Felix
A1 López de Munain, Adolfo
AB Background: Although central nervous system (CNS) involvement in adult myotonic dystrophy type 1 (DM1) was described long ago, the large number of variables affecting the cognitive and personality profile have made it difficult to determine the effect of DM1 on the brain. The aim of this study was to define the cognitive and personality patterns in adult DM1 patients, and to analyse the relationship between these clinical patterns and their association with the underlying molecular defect.Method: We examined 121 adult DM1 patients with confirmed molecular CTG repeat expansion and 54 control subjects using comprehensive neuropsychological tests and personality assessments with the Millon Clinical Multiaxial Inventory (MCMI)-II. We used a multiple linear regression model to assess the effect of each variable on cognition and personality adjusted to the remainders.Results: Patients performed significantly worse than controls in tests measuring executive function (principally cognitive inflexibility) and visuoconstructive ability. In the personality profile, some paranoid and aggressive traits were predominant. Furthermore, there was a significant negative correlation between the CTG expansion size and many of the neuropsychological and personality measures. The molecular defect also correlated with patients' daytime somnolence.Conclusions: Besides muscular symptomatology, there is significant CTG-dependent involvement of the CNS in adult DM1 patients. Our data indicate that the cognitive impairment predominantly affects the fronto-parietal lobe.
PB Cambridge University Press
SN 0033-2917
YR 2010
FD 2010
LK https://hdl.handle.net/20.500.14352/116405
UL https://hdl.handle.net/20.500.14352/116405
LA eng
NO Sistiaga A, Urreta I, Jodar M, Cobo AM, Emparanza J, Otaegui D, Poza JJ, Merino JJ, Imaz H, Martí-Massó JF, López de Munain A. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. Psychol Med. 2010 Mar;40(3):487-95. doi: 10.1017/S0033291709990602. Epub 2009 Jul 23. PMID: 19627641.
NO Ministerio de Educación (España)
DS Docta Complutense
RD 8 abr 2025