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Frontotemporal Dementia, Pick disease (main mutation R370W)

Neurology 10.022

Frontotemporal Dementia, Pick disease (main mutation R370W)

FTDP

Signs/symptoms: Dementia, early onset, familial, autosomal dominant.
Complications: Microtubule-associated protein tau. Tauopathy.
Early diagnosis/treatment: Yes
Dementia, frontotemporal with or without Parkinsonism, Pick disease. Mutations reduce the ability of tau to bind microtubules and to promote microtubule assembly.

Material required:

Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: No
Chromosomal localization: 17q21.1 OMIM number: 157140

Microtubule-associated protein tau (main mutation R370W)

MAPT

Gene regions tested:

Gene regions:
Amino acid positions: R370W
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:

8820.00 8811.01 8819.01
  TP REVAL: 250 TP Value: 0.9 CHF 225.00
Other europe: EUR 160.00
Other regions: USD call

References:

Froelich S, Basun H, Forsell C, Lilius L, Axelman K, Andreadis A, Lannfelt L. Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am J Med Genet. 1997;74:380-385.
Goedert M, Spillantini MG. A century of Alzheimer's disease. Science. 2006;314:777-781.
Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum. Mutat. 2004;24:277-295.