Bovine myoclonus: Model of human hyperekplexia (startle disease)

Movement Disorders

Volumn 17, Issue 4, 2002, Pages 743-744

  Healy, Peter J ^a   Pierce, Kerrie D ^b   Dennis, Julie A ^a   Windsor, Peter A ^a   Schofield, Peter R ^b,c  

^a NSW DEPARTMENT OF PRIMARY INDUSTRIES   (Australia)

^b GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; ANTICONVULSIVE AGENT; GLYCINE RECEPTOR; MONOCLONAL ANTIBODY; NUCLEOTIDE; STRYCHNINE; TRITIUM; TYROSINE;

ANIMAL MODEL; ARTICLE; BINDING SITE; CENTRAL NERVOUS SYSTEM; COW; EXON; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LIGAND BINDING; MYOCLONUS; NEUROTRANSMISSION; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR BINDING; SIGNAL TRANSDUCTION; SPINAL CORD TRANSSECTION; STARTLE EPILEPSY; STOP CODON; SYNAPTIC MEMBRANE; VIDEOTAPE;

EID: 4644345346     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10216     Document Type: Article

References (7)

1. Healy PJ, Harper PA, Bowler JK. Prenatal occurrence and mode of inheritance of neuraxial oedema in Poll Hereford calves. Res Vet Sci 1985;38:96-98.
2. Gundlach AL, Dodd PR, Grabara CS, Watson WE, Johnston GA, Harper PA, Dennis JA, Healy PJ. Deficit of spinal cord glycine/strychnine receptors in inherited myoclonus of Poll Hereford calves. Science 1988;241:807-1810.
3. Harper PA, Healy PJ, Dennis JA. Inherited congenital myoclonus of polled Hereford calves (so-called neuronal oedema): a clinical, pathological and biochemical study. Vet Rec 1986;119:59-62.
4. Pierce KD, Handford CA, Morris R, Vafa B, Dennis JA, Healy PJ, Schofield PR. A nonsense mutation in the α1 subunit of the inhibitory glycine receptor associated with bovine myoclonus. Mol Cell Neurosci 2001;17:354-363.
5. Rajendra S, Schofield PR. Molecular mechanisms of inherited startle syndromes. Trends Neurosci 1995;18:80-82.
6. Koning-Tijssen MA, Brouwer OF. Hyperekplexia in the first year of life. Mov Disord 2000;15:1293-1296.
7. Simon E. Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for α1 and β glycine receptor subunits. Mov Disord 1997;12:221-228.