Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis

Central nervous system (CNS) involvement in hereditary transthyretin (TTR) amyloidosis has been described in patients whose disease course was modified by liver transplant. However, cognitive dysfunction has yet to be investigated in those patients. Moreover, CNS involvement in untreated patients or...

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Bibliographic Details
Published in:Journal of neurology 2018-02, Vol.265 (2), p.299-307
Main Authors: Martins da Silva, Ana, Cavaco, Sara, Fernandes, Joana, Samões, Raquel, Alves, Cristina, Cardoso, Márcio, Kelly, Jeffery W., Monteiro, Cecília, Coelho, Teresa
Format: Article
Language:English
Subjects:
Age
Amyloidosis
Asymptomatic
Auditory discrimination learning
Blood tests
Central nervous system
Cognition & reasoning
Cognitive ability
Dementia
Dementia disorders
Disease
Education
Hospitals
Liver diseases
Liver transplantation
Liver transplants
Medicine
Medicine & Public Health
Mental depression
Mutation
Nervous system
Neurology
Neuropsychology
Neuroradiology
Neurosciences
Original Communication
Polyneuropathy
Proteins
Semantics
Transthyretin
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Summary:Central nervous system (CNS) involvement in hereditary transthyretin (TTR) amyloidosis has been described in patients whose disease course was modified by liver transplant. However, cognitive dysfunction has yet to be investigated in those patients. Moreover, CNS involvement in untreated patients or asymptomatic mutation carriers remains to be studied. A series of 340 carriers of the TTRVal30Met mutation (180 symptomatic and 160 asymptomatic) underwent a neuropsychological assessment, which included the Dementia Rating Scale-2 (DRS-2), auditory verbal learning test, semantic fluency, phonemic fluency, and trail making test. Cognitive deficits were identified at the individual level, after adjusting the neuropsychological test scores for demographic characteristics (sex, age, and education), based on large national normative data. The presence of cognitive dysfunction was determined by deficit in DRS-2 and/or multiple cognitive domains. Participants were also screened for depression based on a self-report questionnaire. The frequency of cognitive dysfunction was higher ( p  = 0.003) in symptomatic (9%) than in asymptomatic (2%) carriers. Among older carriers (≥ 50 years), the frequency of cognitive dysfunction was higher ( p  
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-017-8668-8