Amyotrophic lateral sclerosis in a patient with Kartagener syndrome

Abstract

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.

Deep learning modeling of rare noncoding genetic variants in human motor neurons definesCCDC146as a therapeutic target for ALS

“…Dysfunction of MAP is a recognized upstream driver of ALS pathogenesis 65 . Flagella are functionally mirrored by cilia and it is notable that primary cilia dyskinesia has been associated with ALS 66,67 . We note that frank primary ciliary dyskinesia has not been observed in CCDC146 knockout mice 17 , but we speculate a more subtle phenotype may be present and should be the subject of further research.…”

Auditory processing disorders associated with a case of Kartagner's syndrome

“…Kartagner's syndrome is a rare genetic disorder due to deficits in ciliary motion (15). Immotile ciliary action in Kartagner's syndrome is mainly manifested in the respiratory tract and the fallopian tube (22).…”

Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

“…The most common complications include congenital heart disease, hydrocephalus, cleft palate, bilateral cervical ribs, anal atresia, urethral crack and duplex kidney. In addition, PCD/KS may be complicated by pulmonary heart disease,10 acute mesangial proliferative glomerulonephritis,11 renal cell adenocarcinoma,12 central giant cell granuloma,13 mediastinal tumor,14 amyotrophic lateral sclerosis,15 pulmonary hypertension/pulmonary capillary hemangioma,16 diffuse bronchiolitis,17 rheumatoid arthritis,18 congenital glaucoma/cataracts, nearsightedness, membranous pupil, olfactory defects, serous mucinous otitis,19 hearing loss, conductive deafness, nephrogenic bone defects,20 pulmonary infundibular stenosis, chronic kidney failure,21 reproductive tract abnormalities, testicular seminoma,22 mental retardation, schizophrenia,2324 neonatal respiratory distress252627 and so on. Ciliary dysfunction in the oviduct or endometrium may lead to an increasing risk of ectopic pregnancy or infertility in women 32829.…”