Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 16240349.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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 autosomal dominant pattern of inheritance. We excluded the involvement of the ALS and FTD-linked genes for copper/zinc superoxide dismutase (SOD1) and tau. The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.
Medical subject headings
- Amyotrophic Lateral Sclerosis
- Arginine
- Dementia
- Lysine
- Microtubule-Associated Proteins
- Mutation