PMC2639567_01
Video-radiological barium examination with intra- and- postdeglutive aspiration. From left to right: Oral phase of the swallowing procedure (left picture), laryngeal phase of the swallowing procedure (middle picture) and prolonged laryngeal/pharyngeal phase (right picture) with aspiration into the larynx and trachea.
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F1
Video-radiological barium examination revealed intra- and- postdeglutive aspiration (Figure 1).
Pedigree of the patient (marked by arrow) indicating autosomal-dominant transmission of OPMD. One 69 year old brother (marked by a question mark) of the index patient was reported to have only mild dysphagia without eyelid ptosis which may reflect mild expression of the disease or even chance association. The affection status of the paternal grandmother (marked by a question mark) is unclear because she died already at the age of 36 years.
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F2
Analysis of GCG-repeat size in exon 1 of the PABPN1 gene by PCR and denaturing PAA gel electrophoresis as described previously showing heterozygosity for a (GCG)10 expansion in the index patient (lane 5, arrow). Lanes 1, 3, 6, and 9 represent normal homozygous controls for the (GCG)6 allele. Lanes 2, 4, 7 and 8 show heterozygote and non related carriers of (GCG)8, (GCG)9, (GCG)11, and (GCG)12 expansions, respectively.
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F3
DNA testing revealed a heterozygous (GCG)10 expansion of the (GCG)-mini-repeat, located in exon 1 of the poly(A) binding protein, nuclear 1gene (PABPN1), thus verifying oculopharyngeal muscular dystrophy (Figure 3).