Clinical and molecular analysis of chinese patients with thyrotoxic periodic paralysis.
Although sporadic thyrotoxic periodic paralysis (TPP) has a much higher prevalence in Asian than in all the other populations studied so far, it is also increasingly being seen at the emergency departments of the West, hence, it is vital to stress the importance of recognizing it. TPP shares some similarities with hypokalemic periodic paralysis (HOKPP). However, the pathophysiology of TPP and the reasons for this higher incidence are not known. We hypothesized that some mutations in the CACNA1S gene, which has been implicated in familial HOKPP, might play a role in TPP. We present 5 Chinese patients who suffer from TPP and demonstrate typical clinical features. No mutation was found on the whole CACNA1S gene. Therefore other molecular mechanisms will have to be examined in order to explain the different TPP incidences.
Laboratory of Neuromorphology, Department of Neurology, Inselspital, University of Bern, Bern, Switzerland.
L
L
Chen
D
D
Lang
X W
XW
Ran
F
F
Joncourt
S
S
Gallati
J-M
JM
Burgunder
D000328:Adult; D002681:China; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D013971:Thyrotoxicosis / Q000150:complications