Teaching Video NeuroImages: Cautious walking gait in siblings with hereditary hyperekplexia

Zhang, Chao; Wang, Shi-Ge; Wang, Yan; Liu, Xiaoli; Cao, Li

doi:10.1212/wnl.0000000000007375

Cited by 5 publications

(1 citation statement)

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“…All cases showed a cautious gait with a wide stride in adult life. Interestingly, all patients dared not to walk on hard ground, but could walk freely without fear on the greensward, or with something relied on, such as wall, wheelchair, umbrella or stick (the video of the cautious gait and the improved therapeutic effects in siblings of the family 1 11 ). The non-specific abnormalities in electroencephalogram (focal spike or slow waves) were found in two patients (family 1).…”

Section: Clinical Findingsmentioning

confidence: 99%

Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia

et al. 2020

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Background and Purpose Hyperekplexia (HPX), a rare neurogenetic disorder, is classically characterized by neonatal hypertonia, exaggerated startle response provoked by the sudden external stimuli and followed by a shortly general stiffness. Glycine receptor alpha 1 (GLRA1) is the major pathogenic gene of the disease. We described the clinical manifestations of genetically confirmed HPX patients and made a literature review of GLRA1-related HPX to improve the early recognition and prompt the management of the disorder.Methods Extensive clinical evaluations were analyzed in 4 Chinese HPX patients from two unrelated families. Next generation sequencing was conducted in the probands. Sanger sequence and segregation analysis were applied to confirm the findings.Results All four patients including 3 males and 1 female presented with excessive startle reflex, a cautious gait and recurrent falls. Moreover, startle episodes were dramatically improved with the treatment of clonazepam in all cases. Exome sequencing revealed 2 homozygous GLRA1 mutations in the patients. The mutation c.1286T>A p.I429N has been previously reported, while c.754delC p.L252* is novel.Conclusions HPX is a treatable disease, and clonazepam is the drug of choice. By studying and reviewing the disorder, we summarized the phenotype, expanded the genotype spectrum, and discussed the possible pathogenic mechanisms to enhance the understanding and recognition of the disease. Early awareness of the disease is crucial to the prompt and proper administration, as well as the genetic counseling.

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Section: Clinical Findingsmentioning

confidence: 99%