title: A 5-year follow-up study of an atypical case of myotonic dystrophy.
abstract: This study presents 5-year follow-up data on NG, a woman with adult onset myotonic dystrophy and progressive cognitive decline who was first described by Wilson et al. The extent of the cognitive impairment is atypical of symptom-onset in adulthood and of paternal inheritance, both of which apply to this case. Together, the present and earlier studies report the results of regular neuropsychological assessments over a 16-year period. Severe impairment in executive functioning, episodic and semantic memory were apparent early in the history, while visuospatial skills and working memory were only mildly impaired after 16 years of follow-up. There was also a progressive dyslexia, initially characterized by the regularization errors typical of surface dyslexia, but subsequently dominated by visual/phonological reading errors. This pattern of impairment is not typical of myotonic dystrophy but resembles semantic dementia. Whilst the deficits may be attributable wholly to myotonic dystrophy pathology, the co-existence of a form of semantic dementia is also possible. It is noted that the aggregation of tau protein is a neuropathological feature common to both diseases.
authors.affiliation: Medical School, c/o Psychopharmacology, University Hospital, Queen's Medical Centre, Nottingham, UK. jamie.macniven@nottingham.ac.uk
authors.forename: J A B
authors.initials: JA
authors.lastname: Macniven
authors.forename: N L
authors.initials: NL
authors.lastname: Graham
authors.forename: R R
authors.initials: RR
authors.lastname: Davies
authors.forename: B A
authors.initials: BA
authors.lastname: Wilson
mesh_terms: D000328:Adult; D003072:Cognition Disorders / Q000523:psychology*; D003704:Dementia / Q000523:psychology*; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D009223:Myotonic Dystrophy / Q000523:psychology*; D009483:Neuropsychological Tests