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. 2016 May 26;2(3):e80. doi: 10.1212/NXG.0000000000000080

Figure 1. Pedigrees of the 8 families carrying TARDBP mutations (A) and pathologic examination of patient M008015-001 (B).

Figure 1

(A) Pedigrees of the 8 families carrying TARDBP mutations. Probands are indicated with an arrow. Individuals are represented by a diamond to preserve confidentiality. All affected members are represented in black. Individuals with an uncertain phenotype are represented in gray. AO = age at onset; AAD = age at death; CA = current age; the phenotypes are indicated for each affected individual. Genotypes are indicated for the individuals for whom DNA was available. Family F242: The obligate transmitter parent (004) died of suicide at age 68. Family 389: The mutation was not detected in 007, indicating that the transmitter was 006 who presented with isolated amyotrophic lateral sclerosis (ALS) at age 73 and died at age 74. One sibling (011) developed bulbar ALS without dementia at age 57. (B) Pathologic examination of patient M008015-001. Immunohistochemistry with TDP-43 and p62 antibodies showed TDP-43-positive neuronal inclusions in the hippocampus (a, b) and putamen (c); cytoplasmic p62-positive neuronal inclusions in the frontal cortex (d), hippocampus (e), medulla (f), and glial inclusions in the cerebellum (g).