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Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges

✍ Scribed by Smith, Andrea L.; Teener, James W.; Callaghan, Brian C.; Harrington, Jack; Uhlmann, Wendy R.

Book ID
125363529
Publisher
Springer
Year
2014
Tongue
English
Weight
295 KB
Volume
23
Category
Article
ISSN
1059-7700

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## Abstract We report a patient with autosomal‐dominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the __SOD1__ promoter region, located in the conserved TATA box motif (TATAAAβ†’TGTAAA). Functional promoter studies of this variant in an in vitro system showed moderate reduction