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FTD with parkinsonism linked to chromosome 17 (FTDP-17)

Fronto-Temporal Degeneration


by André Delacourte

General outline

Fronto-temporal clinical signs associated with Parkinsonism features. The Parkinsonian features are related to movement disorders such as rigidity, reduced speed and uncontrolled movemements, including those of the eye (supranuclear palsy).

Symptoms and course

Clinical presentation is extremely variable, according to the type of mutation on tau gene, and heterogeneous inside a same family. Patients may have slowly progressive behavioural changes, language disturbances, and/or extrapyramidal signs. Some have with rigidity, bradykinesia, supranuclear palsy and saccadic eye movement disorders. Symptoms usually start between 40 and 60 years of age, but may occur earlier or later. Disease duration is usually between five and ten years, but occasionally may be up to 20-30 years. The disease progresses over a few years into a profound dementia with mutism.

Genetics

Familial autosomic dominant, with full penetrance (One child out of two inherits of the mutation of the parent, and this mutation will inevitably provoke the disease).

Frequency

FTDP-17 is extremely rare, but frequent in patients with FTD and a familial history (Rosso et al 2002).

Diagnostic procedures

Clinical (to observe frontotemporal and parkinsoninan signs) and MRI (to observe atrophy of frontotemporal regions and to exclude other pathologies such as vascular pathology) (FTD phenotype). Familial cluster. Genetic test for the tau gene mutations.

Causes and risk factors

FTD is mainly due to abnormalities of tau gene or tau protein.

Care and treatment

As yet there is no cure for fronto-temporal dementia and the progression of the condition cannot be slowed. Drugs that are designed for the treatment of Alzheimer's disease, such as Aricept and Exelon, may make symptoms worse and increase aggression. Symptomatic for disinhibition and behavioural problems. Antidepressants for apathy. Trazodone for agitation. No prevention.

Ongoing research / clinical trials

These mutations have generated the concept of “tauopathies”, since the cause of the disease is tau mutations. Many other neurodegenerative disorders have also tau abnormalities.


Available services

The Association for Frontotemporal Dementias
www.ftd-picks.org


References

  • Ingram, E. M. and M. G. Spillantini (2002). Tau gene mutations: dissecting the pathogenesis of FTDP-17. Trends Mol Med 8(12): 555-62.
  • Lebert F, Stekke W, Hasenbroekx Ch, Pasquier F.Fronto-temporal dementia. A randomized, controlled trial with trazodone. Dem Cogn Disord. (in press)
  • Rosso SM, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC (2002) A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Ann Neurol 51:373-6

 

 
 

Last Updated: Friday 09 October 2009

 

 
  • Acknowledgements

    This information was gathered in the framework of the European Commission financed project "Rare forms of dementia". Neither the European Commission nor any person acting on its behalf is responsible for any use that might be made of the following information.
  • European Union
 
 

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