TY - JOUR
T1 - Familial paroxysmal nonkinesigenic dyskinesia
T2 - Clinical and genetic analysis of a Taiwanese family
AU - Yeh, Tu Hsueh
AU - Lin, Juei Jueng
AU - Lai, Szu Chia
AU - Wu-Chou, Yah Huei
AU - Chen, An Chih
AU - Yueh, Kuo Chu
AU - Chen, Rou Shayn
AU - Lu, Chin Song
PY - 2012/12/15
Y1 - 2012/12/15
N2 - Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families. The present study characterized the clinical and genetic findings of a Taiwanese PNKD family. The clinical features of our five patients in successive three generations included onset age less than 10 years, attack duration between 3 min and 4 h, and a variety of aura symptoms. The attacks were provoked not by sudden action but by emotional stress, caffeine, fatigue, heavy exercise and sleep deprivation. Sleep could abolish or diminish the attack and the attacks responded well to clonazepam. Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. Comparing our patients with previously reported 18 families with PNKD/MR-1 mutations, the majority of the patients exhibited quite similar manifestations in attack patterns and precipitating factors. The recurrent conservative mutations in different ethnicities indicate importance in the pathogenesis of PNKD.
AB - Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families. The present study characterized the clinical and genetic findings of a Taiwanese PNKD family. The clinical features of our five patients in successive three generations included onset age less than 10 years, attack duration between 3 min and 4 h, and a variety of aura symptoms. The attacks were provoked not by sudden action but by emotional stress, caffeine, fatigue, heavy exercise and sleep deprivation. Sleep could abolish or diminish the attack and the attacks responded well to clonazepam. Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. Comparing our patients with previously reported 18 families with PNKD/MR-1 mutations, the majority of the patients exhibited quite similar manifestations in attack patterns and precipitating factors. The recurrent conservative mutations in different ethnicities indicate importance in the pathogenesis of PNKD.
KW - Autosomal dominant
KW - Benzodiazepines
KW - Genotype-phenotype correlation
KW - Myofibrillogenesis regulator 1 (MR-1) gene
KW - Paroxysmal dyskinesia
KW - Paroxysmal nonkinesigenic dyskinesia (PNKD)
UR - http://www.scopus.com/inward/record.url?scp=84867885878&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84867885878&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2012.08.015
DO - 10.1016/j.jns.2012.08.015
M3 - Article
C2 - 22967746
AN - SCOPUS:84867885878
VL - 323
SP - 80
EP - 84
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -