ALS-FTDP
17q21.1
Association of amyotrophic lateral sclerosis and frontotemporal dementia with parkinsonism (ALS-FTDP), amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALD-FTDP)
Defintion: Association of amyotrophic lateral sclerosis and frontotemporal dementia with parkinsonism (ALS-FTDP).
Neuropathology
tau deposits (MAPT)
Etiology
germline mutations in MAPT coding for Tau microtubule-associated protein at 17q21.1
References
Kumar-Singh S, Van Broeckhoven C. Frontotemporal lobar degeneration: current concepts in the light of recent advances. Brain Pathol. 2007 Jan;17(1):104-14. PMID: 17493044
Cairns NJ, Lee VM, Trojanowski JQ. The cytoskeleton in neurodegenerative diseases. J Pathol. 2004 Nov;204(4):438-49. PMID: 15495240