Literature DB >> 1352015

Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.

L M Dubowitz1, H Bouza, M F Hird, J Jaeken.   

Abstract

The pathophysiology of startle disease (hyperekplexia) is unknown. Hyperactivity of the brainstem reticular formation has been suggested as a cause. We report a newborn infant with classic features of startle disease in whom cerebrospinal fluid (CSF) concentrations of gamma-aminobutyric acid (GABA) were substantially lower than normal during the first weeks of life. She improved greatly on clonazepam treatment. We suggest that the signs of this disorder may be due to a genetic defect or to delayed maturation resulting in low CSF GABA.

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Year:  1992        PMID： 1352015     DOI： 10.1016/0140-6736(92)90398-m

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  7 in total

1.  Hyperekplexia in two siblings.

Authors:  M L Kulkarni; B Kannan; Prakash Mathadh
Journal:  Indian J Pediatr       Date:  2006-12       Impact factor: 1.967

2.  A case of glycine-receptor antibody-associated encephalomyelitis with rigidity and myoclonus (PERM): clinical course, treatment and CSF findings.

Authors:  A Piotrowicz; A Thümen; M I Leite; A Vincent; A Moser
Journal:  J Neurol       Date:  2011-05-04       Impact factor: 4.849

Review 3.  Inborn errors of neurotransmitter receptors.

Authors:  R Surtees
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

4.  Hyperekplexia and stiff-man syndrome: abnormal brainstem reflexes suggest a physiological relationship.

Authors:  S Khasani; K Becker; H-M Meinck
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-09       Impact factor: 10.154

5.  Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Authors:  F V Elmslie; S M Hutchings; V Spencer; A Curtis; T Covanis; R M Gardiner; M Rees
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

6.  Frameshift Variant in Novel Adenosine-A1-Receptor Homolog Associated With Bovine Spastic Syndrome/Late-Onset Bovine Spastic Paresis in Holstein Sires.

Authors:  Frederik Krull; Marc Hirschfeld; Wilhelm Ewald Wemheuer; Bertram Brenig
Journal:  Front Genet       Date:  2020-11-30       Impact factor: 4.599

7.  Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.

Authors:  Clare N Lynex; Ian M Carr; Jack P Leek; Rajgopal Achuthan; Simon Mitchell; Eamonn R Maher; C Geoffrey Woods; David T Bonthon; Alex F Markham
Journal:  BMC Neurol       Date:  2004-11-30       Impact factor: 2.474
  7 in total

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