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A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

✍ Scribed by Zeynep Tümer; Birgitte Bertelsen; Ole Gredal; Melinda Magyari; Karen Cecilie Nielsen; LuCamp; Karen Grønskov; Karen Brøndum-Nielsen

Book ID
116781737
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
547 KB
Volume
33
Category
Article
ISSN
0197-4580

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Heterozygous R1101K mutation of the DCTN
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD
✍ Christoph Münch; Angela Rosenbohm; Anne-Dorte Sperfeld; Ingo Uttner; Sven Reske; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 561 KB

## Abstract A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co‐occurrence of frontotemporal dementia (FTD). Two members of our kindred were affected with motor neuron disease and two with dementia in an auto