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Thorax 1998;53:894-897 ( October )

Review series

Genetics and pulmonary medicine bullet  6

Immotile cilia syndrome: past, present, and prospects for the future

B A Afzelius

Department of Ultrastructure Research, The Wenner-Gren Institute, Stockholm University, S-106 91 Stockholm, Sweden

Correspondence to: Dr B Afzelius.

The first 150 words of the full text of this article appear below.

    Past

The existence of a genetic disease caused by immotile cilia was reported in a short paper published in 1976.1 The prevalence was estimated to be one person in about 30 000. The following facts made it possible to draw these conclusions.

Cilia from the lung, nose, or elsewhere have a structure that is highly conservative and, moreover, resembles that of the sperm flagellum. The central part of the sperm tail, its axoneme, thus has the same well known 9 + 2 pattern as has a cilium, although it is about 50 µm long whereas the human cilium is only about 6 µm in length (fig 1).

Figure Removed (Available Only in the Full Text)

The ultrastructure of the sperm tail from three infertile men with immotile but otherwise normal spermatozoa had been described in two papers in 19752 3; they were found to lack the so-called dynein arms, the structures responsible for generating the movements of cilia or sperm tails.4 The absence of . . . [Full text of this article]




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