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)

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.
 ...
PMID:[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family]. 894 41

Increased muscle tone and exaggerated tendon reflexes characterize most of the individuals after a spinal cord injury (SCI). We estimated seven parameters from the pendulum test and used them to compare with the Ashworth modified scale of spasticity grades in three populations (retrospective study) to assess their spasticity. Three ASIA B SCI patients who exercised on a stationary FES bicycle formed group F, six ASIA B SCI patients who received only conventional therapy were in the group C, and six healthy individuals constituted the group H. The parameters from the pendulum test were used to form a single measure, termed the PT score, for each subject. The pendulum test parameters show differences between the F and C groups, but not between the F and H groups, however, statistical significance was limited due to the small study size. Results show a small deviation from the mean for all parameters in the F group and substantial deviations from the mean for the parameters in the C group. PT scores show significant differences between the F and C groups and the C and H groups and no differences between the F and C groups. The correlation between the PT score and Ashworth score was 0.88.
 ...
PMID:Assessment of Spasticity by a Pendulum Test in SCI Patients Who Exercise FES Cycling or Receive Only Conventional Therapy. 2932 9