期刊
JOURNAL OF CHILD NEUROLOGY
卷 23, 期 12, 页码 1433-1438出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073808320754
关键词
gene mutation; GLRA1; hyperekplexia; startle; neurodevelopment; stiff-boy
Hyperekplexia (MIM #149400) is a rare neurological disorder, p characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus. Familial hyperekplexia is usually autosomal dominant resulting from mutations in the inhibitory glycine receptor subunit alpha 1(GLRA1) gene on chromosome 5q. We identified a 3-generation family with progressively severe phenotypes of hyperekplexia. All affected family members were found to be heterozygous for a novel arginine271 proline mutation in GLRA1. Long-term follow-up of the affected members of the third generation, now aged 6 and 7 years, reveals enhanced startle responses and persistent hypertonia of the extremities without clonus or a catch, tight heel cords and abnormal toe-walking gait, and plantar flexor reflexes. The 7-year-old child recently reponded well to a benzodiazepine. Future studies are warranted to examine whether this new missense mutation is solely responsible for this atypical phenotype.
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