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. 2020 Oct 6;2(2):fcaa120. doi: 10.1093/braincomms/fcaa120

Figure 2.

Figure 2

Family 1174. Unaffected individuals are represented by white diamonds. For simplicity and clarity, multiple unaffected individuals within a sibship are represented by a single diamond and spouses are omitted. Individuals affected with ALS for which DNA samples were unavailable are represented by grey diamonds. Individuals affected with ALS for which DNA samples are available are represented by black diamonds. Individual V-1, represented by a yellow diamond, presented with bilateral leg weakness at 45 years of age and has a clinical diagnosis of spastic paraparesis with lower extremity weakness. Their condition has been stable for 30 years. Individual V-6, represented by a green diamond, has a clinical diagnosis of probable Alzheimer Disease. Individual V-13, represented by a red diamond, has a clinical diagnosis of Paget Disease of Bone. SQSTM1 p. P392L-positive individuals are indicated by a ‘+’ sign. SQSTM1 p. P392L-negative individuals are indicated by a ‘−’ sign. Possible obligate carriers are represented by a black circle within a diamond.