Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002736 (
amyotrophic lateral sclerosis
)
19,048
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. 2055 Apr 87
