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Molecular insights into the disease mechanisms of startle disease

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Molecular insights into pathogenic mechanisms in startle disease

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Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

Biological Chemistry, 2012
Abstract Startle disease affects newborn children and involves an exaggerated startle response and muscle hypertonia in response to acoustic or tactile stimuli. The primary cause of startle disease is defective inhibitory glycinergic transmission due to mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene (GLRA1).
Victoria M James, Maya Topf, Robert J Harvey   +2 more
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Essential Startle Disease May Not be a Uniform Entity

Clinical EEG (electroencephalography), 2001
A 25-year-old man with essential startle disease has been reported. He had a history of sudden jerks and falls in response to unexpected stimuli. Abnormal falling developed when he learned to walk. No similar cases are known in his family. Physical examination revealed hyperreflexia.
Zeki Odabasi, Erdal Eroglu, Zeki Gökçil   +2 more
exaly   +4 more sources

[Electrophysiological studies of a case of startle disease].

Rinsho shinkeigaku = Clinical neurology, 1991
A 53-year-old female with startle disease (major form) was reported. An abnormal startle response was the most prominent clinical feature. Physical examination revealed left lateral gaze palsy and left extensor plantar response. The caloric test evoked no responses bilaterally.
A, Chiba, S, Kojima, Y, Kuroiwa, R, Shiozawa, M, Shibayama, H, Kanemura   +5 more
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The effect of levetiracetam in startle disease

Journal of Neurology, 2007
Wolfgang N Löscher, Löscher Wolfgang N
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STARTLE DISEASE: AN AVOIDABLE CAUSE OF SUDDEN INFANT DEATH

Lancet, The, 1989
Federico Vigevano, Matteo Di Capua
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Familial Startle Disease (Hyperexplexia)

Archives of Neurology, 1984
Six affected members from a family of 15 patients with familial startle disease (hyperexplexia) underwent extensive electrophysiologic evaluation. The most marked abnormality consisted of prominent C response 60 to 75 ms after median and peroneal nerve stimulation. The somatosensory evoked responses were also relatively high in amplitude.
O N, Markand, B P, Garg, D D, Weaver
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STARTLE DISEASE OR HYPEREKPLEXIA FURTHER DELINEATION OF THE SYNDROME

Brain, 1980
Startle disease is an autosomal dominant disorder with two phenotypic expressions. In the major form, there is hypertonia in infancy, and later an insecure gait. The patients have falling attacks without unconsciousness and in these, they are often injured or suffer concussions.
F, Andermann, D L, Keene, E, Andermann, L F, Quesney   +3 more
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