Hyperekplexia

Hyperekplexia (ICD-10: G25.8), Latine "adventus nec opinatus supra modum", est morbus neurologicus cum responso perterrendi post stimulos externos tactiles vel acusticos velut cum incremento tensionis muscularis (hypertonia) et myoclonis. Hyperekplexia classica cum variis defectis geneticis et neurotransmissione aminoacidi glycini iuncta est. Examinatio EEG undas pathologicas non ostendit.

Pathophysiologia recensere

Neurotransmissor glycini recensere

Glycinum

Glycinum est neurotransmissor cum effectibus inhibentibus, imprimis in medulla spinali, trunco encephali, et retina inventus. Glycinum in medulla spinali et trunco encephali receptoria glycini inotropica obsidet, quibus influxum chlori neuron inhibentem (potentialem postsynapticam inhibentem) perficit. Est etiam cofactor glutamatergicorum receptoriorum NMDA.

Genetica recensere

Mutationes geneticae ad neurones prae- et postsynaptica spectant.

Genum GLRA1 (5q32) — receptorium glycini cum subunitate alpha abnormali^[1]
Genum GLRB — receptorium glycini cum subunitate beta abnormali^[2]

Notae recensere

↑ Tijssen M. A., Shiang R., van Deutekom J., Boerman R. H., Wasmuth J. J., Sandkuijl L. A., Frants R. R., Padberg G. W. (Iun 1995). "Molecular genetic reevaluation of the Dutch hyperekplexia Family". Archives of neurology 52 (6): 578-82
↑ Meyer G., Kirsch J., Betz H., Langosch D. (Sep 1995). "Identification of a gephyrin binding motif on the glycine receptor beta subunit". Neuron 15 (3): 563-72

[1] Tijssen M. A., Shiang R., van Deutekom J., Boerman R. H., Wasmuth J. J., Sandkuijl L. A., Frants R. R., Padberg G. W. (Iun 1995). "Molecular genetic reevaluation of the Dutch hyperekplexia Family". Archives of neurology 52 (6): 578-82

[2] Meyer G., Kirsch J., Betz H., Langosch D. (Sep 1995). "Identification of a gephyrin binding motif on the glycine receptor beta subunit". Neuron 15 (3): 563-72

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