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- W2017478147 abstract "Objective: To describe the variable presentation of TTR Thr 60 Ala Transthyretin Familial Amyloidotic Polyneuropathy (FAP) within a family and determine if the mutation is de novo or related to the previously described Donegal kindred. Background Transthyretin FAP is an autosomal dominant disorder characterized by sensory and autonomic polyneuropathy and variable cardiac, renal, liver, and other organ system involvement. Over 100 known mutations exist. The Thr 60 Ala mutation has been reported by several groups and felt to be the result of a founder mutation from Donegal, Ireland. Design/Methods: We describe the clinical and available electrodiagnostic presentations of six mutation positive individuals in a family with Thr 60 Ala Transthyretin FAP. Haplotype analysis on two affected family members was performed using PCR and compared to the previously described haplotype of the Donegal kindred. Results: The proband developed a painful sensory polyneuropathy at age 48. Muscle weakness rapidly followed. Autonomic symptoms of erectile dysfunction, orthostasis, and postprandial nausea and vomiting were prominent and early features. Cardiomyopathy was also identified. Electrodiagnostic evaluation showed severe sensorimotor axonal polyneuropathy. Death occurred within 7 years of diagnosis. The other five family members with the mutation were less severely affected, ranging from asymptomatic to mild polyneuropathy and cardiac involvement. Haplotype analysis strongly suggested that this family is related to the previously described Donegal kindred. Conclusions: The Thr 60 Ala Transthyretin FAP phenotype is characterized by variable penetrance with sensory > motor polyneuropathy and cardiac involvement. Haplotype analysis suggests this mutation arose primarily from a single founder and is not a common spontaneous mutation. Supported by: In part by the Transthyretin Amyloidosis Outcomes Survey, FoldRx, and Pfizer. Disclosure: Dr. Graham has nothing to disclose. Dr. Slavov has nothing to disclose. Dr. Taylor has received personal compensation for activities with Guidepoint Global as a consultant. Dr. Quan has nothing to disclose." @default.
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- W2017478147 date "2012-04-22" @default.
- W2017478147 modified "2023-09-28" @default.
- W2017478147 title "Clinical and Genetic Characterization of a Kindred with Thr60Ala Transthyretin Familial Amyloid Polyneuropathy (P03.188)" @default.
- W2017478147 doi "https://doi.org/10.1212/wnl.78.1_meetingabstracts.p03.188" @default.
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