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期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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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:	Email author" target="_blank">Clare?N?Lynex Email author Ian?M?Carr Jack?P?Leek Rajgopal?Achuthan Simon?Mitchell Eamonn?R?Maher C?Geoffrey?Woods David?T?Bonthon Alex?F?Markham

Institution:	(1) Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James's University Hospital, Leeds, UK;(2) Neonatal Medical Unit, St Mary's Hospital, Manchester, UK;(3) Department of Paediatrics and Child Health, Section of Medical and Molecular Genetics, The Medical School, University of Birmingham, Birmingham, UK

Abstract:	Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births. Non-progressive forms of symmetrical, spastic CP have been identified, which show a Mendelian autosomal recessive pattern of inheritance. We recently described the mapping of a recessive spastic CP locus to a 5 cM chromosomal region located at 2q24-31.1, in rare consanguineous families.

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