Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) is one of several neurodegenerative diseases in which the human gene SQSTM1 is implicated. FTDALS3 exhibits autosomal dominant inheritance. For information on Drosophila models of this and related diseases, see the disease model report 'neurodegenerative disease, SQSTM1-related' (FBhh0001318).
[updated Feb. 2021 by FlyBase; FBrf0222196]
Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996, pubmed:8875253). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. [from MIM:105400, 2015.02.11]
[FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3](https://omim.org/entry/616437)
[SEQUESTOSOME 1; SQSTM1](https://omim.org/entry/601530)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone (MIM:167250). The phenotype is highly variable, even within families (summary by Rea et al., 2014; pubmed:24486447). [from MIM:616437; 2021.02.22]
Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 (FTDALS3) is caused by heterozygous mutation in the SQSTM1 gene. [from MIM:616437; 2021.02.22]
