Amyotrophic lateral sclerosis in a patient with Kartagener syndrome

作者：Yamashita Satoshi^*; Migita Akie; Hayashi Kenyu; Hirahara Tomoo; Kimura En; Maeda Yasushi; Hirano Teruyuki; Uchino Makoto

来源：Amyotrophic Lateral Sclerosis, 2010, 11(4): 402-404.

DOI：10.3109/17482960903377071

• Amyotrophic lateral sclerosis (ALS)
• Kartagener syndrome
• primary ciliary dyskinesia (PCD)
• dynein
• dynactin

We present a case of a patient with clinically definite ALS, who had earlier suffered from Kartagener syndrome, which is characterized by the triad comprising chronic sinusitis, bronchiectasis, and situs inversus. Recent linkage and mutational analyses identified several genes that are responsible for Kartagener syndrome. Most of them encode subunits of axonemal dyneins, highlighting the importance of dynein motors to ciliary motility. Recent data indicate that defects in cytoplasmic dynein-mediated retrograde axonal transport are involved in the etiology of ALS. Genes encoding the dynein heavy chain of cytoplasmic and outer arm axonemal dyneins are reported to have similar sequences in their central and 3'-end regions. Although a causal link between ALS and Kartagener syndrome has not yet been definitely established, the precise relationship between disrupted axonemal dynein function in Kartagener syndrome and motor neuron death should be investigated.

• 出版日期2010-8