Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes

Bálint S de Vries, Laura M M Rustemeijer, Leonhard A Bakker, Carin D Schröder, Jan H Veldink, Leonard H van den Berg, Tanja C W Nijboer, Michael A van Es

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

OBJECTIVES: Cognitive and behavioural changes within the spectrum of frontotemporal dementia (FTD) are observed frequently in patients with amyotrophic lateral sclerosis (ALS). Whether these changes also occur in other forms of motor neuron disease (MND) is not well studied. We therefore systemically screened a large cohort of patients with primary lateral sclerosis (PLS) and progressive muscular atrophy (PMA) for cognitive and behavioural changes, and subsequently compared our findings with a cohort of patients with ALS.

METHODS: Using a set of screening instruments (Edinburgh Cognitive and Behavioural ALS Screen, ALS and Frontotemporal Dementia Questionnaire, Frontal Assessment Battery, and Hospital Anxiety and Depression Scale), the presence of cognitive and behavioural changes as well as anxiety and depression in 277 patients with ALS, 75 patients with PLS and 143 patients with PMA was evaluated retrospectively.

RESULTS: We found a high frequency of cognitive and behavioural abnormalities with similar profiles in all three groups. Subjects with behavioural variant FTD were identified in all groups.

CONCLUSIONS: The percentage of patients with PLS and PMA with cognitive dysfunction was similar to patients with ALS, emphasising the importance for cognitive screening as part of routine clinical care in all three patient groups. With a similar cognitive profile, in line with genetic and clinical overlap between the MNDs, the view of PLS as an MND exclusively affecting upper motor neurons and PMA exclusively affecting lower motor neurons cannot be held. Therefore, our findings are in contrast to the recently revised El Escorial criteria of 2015, where PLS and PMA are described as restricted phenotypes. Our study favours a view of PLS and PMA as multidomain diseases similar to ALS.

Original languageEnglish
Pages (from-to)141-147
Number of pages7
JournalJournal of neurology, neurosurgery, and psychiatry
Volume90
Issue number2
Early online date3 Aug 2018
DOIs
Publication statusPublished - Feb 2019

Keywords

  • Humans
  • Middle Aged
  • Muscular Atrophy, Spinal/psychology
  • Cognitive Dysfunction/diagnosis
  • Male
  • Neuropsychological Tests
  • Phenotype
  • Mental Disorders/epidemiology
  • Motor Neuron Disease/psychology
  • Aged, 80 and over
  • Adult
  • Female
  • Aged
  • Retrospective Studies
  • Amyotrophic Lateral Sclerosis/diagnosis

Fingerprint

Dive into the research topics of 'Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes'. Together they form a unique fingerprint.

Cite this