Familial frontotemporal dementia with a novel tau exon-10 splice site mutation: Nature confirms a theoretic construct

Dickson, Dennis W.; Le, Tien V.; Lin, Wen‐Lang; Nacharaju, Parimala; Yen, Shu‐Hui; Baker, Matthew; Hutton, Michael; Relkin, Norman

doi:10.1016/s0197-4580(00)82513-0

Cited by 1 publication

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Presenting features of the affected members in that family included behavioural changes but without parkinsonian features. The pathology in this family corresponds to that described in FTDP‐17 and was similar to our case [7,8]. Variability in clinical presentation and pathology has previously been described for patients with tau mutations.…”

Section: Discussionsupporting

confidence: 88%

“…The S305S mutation located in the last codon of tau exon 10 has been described in an Australian family with a clinical phenotype of PSP or frontotemporal dementia (FTD) with PSP‐like parkinsonism [5,6]. Another family with behavioural changes but without parkinsonian features due to the tau S305S mutation has also been reported [7,8]. Here we describe a tau S305S family where mutation carriers have frontotemporal dementia and parkinsonism, i.e.…”

Section: Introductionmentioning

confidence: 94%

See 1 more Smart Citation

The tau S305S mutation causes frontotemporal dementia with parkinsonism

Skoglund

Viitanen

Kalimo

et al. 2008

Euro J of Neurology

View full text Add to dashboard Cite

Members of families with mutations in the tau gene are known to be heterogeneous in their clinical presentation, ranging from frontotemporal dementia to a clinical picture more resembling corticobasal degeneration or progressive supranuclear palsy. In this report, we describe a new phenotype for the tau S305S mutation, previously described as progressive supranuclear palsy. Clinically, the three affected family members showed alterations in personality and behaviour as well as cognitive decline and late levodopa-resistant parkinsonian symptoms, consistent with the diagnosis of frontotemporal dementia with parkinsonism linked to chromosome 17. One autopsied case displayed degeneration of the frontal and temporal lobes together with extensive tau pathology in both neurones and glial cells. Sarkosyl-soluble and -insoluble tau extracted from frontal cortex revealed a ratio shift with decreased levels of tau with three microtubule-binding repeats and increased levels of tau with four microtubule-binding repeats (4R tau). These findings provide further evidence for the clinical and pathological variation both within and between families with mutations in the tau gene. In addition, they support previous studies which demonstrate that the S305S mutation influences the splicing of tau exon 10 and results in an overproduction of 4R tau.

show abstract

Section: Discussionsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 94%