Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of periodic leg movements (PLM) observed in an 86-year-old man during either midthoracic epidural anesthesia or spinal anesthesia. The PLM observed were stereotyped (extension of the big toe in combination with partial flexion of the ankle, knee, and hip lasting 3-5 s) and repetitive (interevent intervals between jerks were 20-40 s) for about 120 and 30 min respectively. The patient was awake but unaware of the PLM unless reminded. The present case was quite similar to sleep-related (noctural) myoclonus (SRM) in every respect except for its occurrence during wakefulness. SRM is more prevalent in the elderly population but its mechanism remains to be elucidated. Previously, we had reported a case of PLM observed in an elderly man with SRM. In our two cases, PLM were seen only while the local anesthetic was acting on the spinal cord; therefore, these anesthesia-related PLM (ARPLM) may suggest that the spinal cord is involved. In particular, we consider that physiological changes seen commonly during non-rapid-eye-movement sleep and a certain phase of anesthesia, such as suppression of the descending inhibitory pathway, and pyramidal tract dysfunction are relevant to ARPLM. In addition, the concomitant alteration of the blood flow in the leg and changes due to aging of the spinal cord may also be involved.
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PMID:Periodic leg movements during either epidural or spinal anesthesia in an elderly man without sleep-related (nocturnal) myoclonus. 235 97

The major form of familial hyperekplexia, a rare autosomal dominant disorder, is characterized by an abnormal startle reaction elicited by auditory and somatosensory stimuli, with transitory stiffness during the neontam period, followed later by falling attacks accompanied by momentary generalized muscular stiffness. Affected neonates occasionally have fatal hypertonia. The minor form is characterized only by an inconstant excessive startle response. We encountered a family in which three females presented with a partial or complete major form of the disease. All our patients were hyperreflexic, insecure gait was present in two subjects, without concomitant spontaneous nocturnal myoclonus. The pathophysiological basis of the hyperekplexia remains unclear. The abnormal startle reflex, probably related to the lack of inhibition by higher centers, is relayed in the caudal brainstem (ponto-medullary reticular formation), where bulbospinal motor efferents originate. Moreover, nonspecific changes such as large somatosensory evoked potentials and long-loop reflexes ("C-responses") may indicate increased cortical neuronal excitability. Polygraphic studies in these patients were normal. The locus of the major form of the disorder is located on chromosome 5q33-q35. Sequence analysis of the alpha 1 subunit of the inhibitory glycine receptor (GLRA1) revealed a mutation at the same codon 271 in several families (G1192A and G1192T). We analyzed this gene and found a G1192A mutation changing an ARG to a LEU codon in all three presented patients. Sporadic cases may represent new mutations or lack of penetrance in some family members. Only one of our three patients needed clonazepam. The diagnosis of this disorder rules out epilepsy, or psychogenic pathological startle reaction. Electrophysiological criteria are useful, however perinatal hypertonia or a tonic generalized spasm accompanied with falls following an abnormal startle reaction and genetic studies remain the diagnostic milestones of familial hyperekplexia.
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PMID:[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family]. 894 41