PMC5089975_01
Epidermal nerve fibre density from first trigeminal branch in a normal subject (A) (normal value: 23.0 +- 6.7) and in AC (B) (1.6/mm). Arrows indicates nerve fibers.
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F1
Skin biopsy, performed in the territory of distribution of first trigeminal branch, D5 dermatome and thigh, showed a wide reduction in intraepidermal innervations (Figure 1), 1.6, 0, and 4.3/mm, respectively, thus explaining the pseudosyringomyelic pattern found.
PMC5089975_02
(A) Pedigree of TD family. Squares indicate male family members and circles female family members. Slashes indicate deceased people and arrows indicate proband. Roman numerals to the left of the pedigree indicate the generation; numerals to the upper left of each symbol indicate the individual family member. Filled symbols indicate homozygotes and half-filled symbols heterozygotes for the Y1698X mutation in the ABCA1 gene. The columns under each symbol indicate, from top to bottom, the total cholesterol, triglycerides, LDL, and HDL-C concentration (mg/dl). (B) Electropherograms reporting nucleotide change in carriers of Y1698X mutation in the ABCA1 gene. Horizontal gray marks under electropherograms indicate the reading frame of codon interested by the mutation. (C) Wild type and prediction of Y1698X mutation on the structure of ABCA1 protein. nd, not detectable.
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F2
AC family tree is shown in Figure 2A. The resequencing of ABCA1 in the proband evidenced the mutation c.5094C > A p.Tyr1698* (legacy name Y1698X) (Figure 2B). It was expected to generate a truncated protein, missing the last four intramembrane repeats (Figure 2C). This mutation was found in homozygosity in DC e RC and in heterozygosity in CC (Figure 2A).