Aug 12, 1999

Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia

Annals of Neurology
H HouldenM Hutton


Splice-site and missense mutations have been identified in tau associated with frontotemporal dementia with parkinsonism linked to chromosome 17. In this study we assessed the genetic contribution of tau mutations to three patient series with non-Alzheimer's (non-AD) degenerative dementia. The groups included (1) a community-based dementia series from Minnesota, MN; (2) a referral series with clinicopathological tauopathy; and (3) a pathologically confirmed familial frontotemporal dementia series from Manchester, UK. Comparing the three clinical series: in the stringently diagnosed Manchester frontotemporal dementia series, tau mutations were present in 13.6% of cases (three splice-site mutations); in the clinicopathological referral series that used more general inclusion criteria, 3 cases with P301L mutations were observed, which represents a lower mutation frequency of 3.6% (9.4% in familial cases); in contrast, tau mutations were not detected in the Minnesota community-based dementia series, suggesting the occurrence of these mutations in dementia generally is rare (<0.2%). These data identify the prevalence of mutations in three different clinical settings and indicate that this figure is sensitive to the diagnostic criter...Continue Reading

  • References26
  • Citations48

Mentioned in this Paper

Senile Paranoid Dementia
Abnormal Degeneration
Alzheimer's Disease
Parkinsonian Disorders
Tau Proteins
Chromosomes, Human, Pair 17
Frontotemporal Dementia
Pick Disease of the Brain

About this Paper

Related Feeds

Atypical Parkinsonism (MDS)

Atypical Parkinsonism presents with the same signs and symptoms of Parkinson's disease, but do not respond to typical Parkionson's disease treatment with levodopa. Atypical Parkinsonism is thought to be associated with abnormal protein buildup within brain cells. Here is the latest on Atypical Parkinsonism.

Alzheimer's Disease: APOE

Apolipoprotein E (APOE) polymorphic alleles are major genetic risk factors for Alzheimer's Disease. Discover the latest research on APOE and other genetic determinants of Alzheimer's Disease here.

Brain Aging

Here is the latest research on intrinsic and extrinsic factors, as well as pathways and mechanisms that underlie aging in the central nervous system.

Alzheimer's Disease: Tau & TDP-43

Alzheimer's disease is a chronic neurodegenerative disease. This feed focuses on the underlying role of Tau proteins and TAR DNA-binding protein 43, as well as other genetic factors, in Alzheimer's.