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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Figure 2

Western blot analysis of senataxin and ATM proteins. ATM and senataxin were quantified by Western blot in lymphoblastoid cell line lysates. Vinculin protein quantification was analysed as an internal control for the total protein amount used in the electrophoresis. In the left panel, patient P428 showed a reduced amount of ATM protein, diagnostic of ataxia telangiectasia. In the right panel, senataxin levels were measured in lymphoblasts of P657, P1890 and P440. In the first two patients, the protein was undetectable confirming the diagnosis of AOA2. In patient P440, homozygous carrier of the p.K992R SETX variant, we observed low amounts of both the senataxin and the control vinculin protein, compared with the loading control. This finding indicates a relative normal amount of the senataxin protein, and does not support the diagnosis of AOA2 (see Discussion).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172