A study of the XXXX associated with transthyretin amyloidosis ( @entity20117 ) in the UK.

@entity1 @entity712 @entity527 @entity72158 @entity21559 @entity16 @entity5536 @entity1897 @entity51 @entity10795 @entity74 @entity923 @entity20117 @entity4149 @entity14756
BACKGROUND: @entity14756 ( @entity20117 ) is usually characterised by a progressive @entity1897 often with associated @entity712 and is due to dominantly inherited transthyretin mutations causing accelerated @entity527 . The UK population is unique in that the majority of @entity1 have the @entity72158 missense mutation in @entity20117 where @entity4149 is replaced by @entity5536 at position 60. This has been traced to a single founder mutation from north-west Ireland. The @entity16 phenotype is less well described than the cardiac manifestations in this group. METHODS: We present the findings from an observational cohort study of @entity1 with @entity20117 attending the National @entity74 Clinic between 2009 and 2013. Detailed clinical neurological and electrophysiological data were collected on all @entity1 alongside correlating autonomic and cardiac assessments. Follow-up data were available on a subset. RESULTS: Forty-four @entity1 with genetically confirmed @entity20117 were assessed; 37 were symptomatic; mean age at onset=62 years, range=38-75 years; 75.7% male. @entity72158 was the most common mutation (17/37), followed by @entity21559 (5/37). A severe, rapidly progressive, predominantly length dependent @entity16 was the predominant phenotype. @entity72158 @entity1 were distinguished by earlier and more frequent association with @entity923 ; a predominance of negative sensory symptoms at onset; significant @entity10795 ; and a non-length dependent progression of @entity51 . @entity16 was observed over a relatively short follow-up period (2 years) in 20 @entity1 with evidence of clinically measurable annual change in Medical Research Council (MRC) sum score (-1.5 points per year) and Charcot Marie Tooth @entity16 Score (CMTNS:2.7 points per year), and a congruent trend in the electrophysiological measures used. CONCLUSION: The description of the @entity20117 @entity16 phenotype, especially in the @entity72158 @entity1 , should aid early diagnosis as well as contribute to the understanding of its natural history.
