Details

Autor(en) / Beteiligte

• Giménez, C
• Zafra, F
• López-Corcuera, B
• Aragón, C

Titel

Molecular bases of hereditary hyperekplexia

Ist Teil von

• Revista de neurologiá, 2008-12, Vol.47 (12), p.648-652

Ort / Verlag

Spain

Erscheinungsjahr

2008

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Hereditary hyperekplexia is a rare clinical syndrome typically characterized by sudden and generalized startle in response to trivial but unexpected tactile or acoustic stimulations. Typically it is accompanied by a temporally but complete muscular rigidly, and usually it manifests shortly after birth. Some affected infants die suddenly from lapses in cardiorespiratory function. Mental development usually is normal. To summarize and update the molecular bases underlying the hereditary hyperekplexia syndrome. Approximately 30% of the individuals suffering hereditary hyperekplexia show mutations on a gene located on chromosome 5q32 with a dominant or recessive trait. This gene encodes the alpha subunit of the strychnine-sensitive glycine receptor, which plays a crucial role in inhibitory glycinergic neurotransmission that process sensory and motor information. About 70% of the patients with hyperekplexia do not show genetic defects in the glycine receptor gene; this suggested that additional genes might be affected in this disease. Recent studies have reveals that mutations in the neuronal glycine transporter GLYT2 are a second major cause of hyperekplexia. Hereditary hyperekplexia is a complex genetic disease in which several genes can be implicated, all of them directly or indirectly involved in inhibitory glycinergic neurotransmission. Two major proteins involved in hyperekplexia are the strychnine-sensitive glycine receptor (GlyR) and the neuronal glycine transporter GLYT2. Implication of secondary additional accompanying or interacting proteins in glycinergic terminals are not ruled out.