ArticleBMC neurology2004
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.
Article in BMC neurology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 63 citations in OpenAlex.
- Soluble Fiber Intake Restores the Estrous Cycle and Sex Hormone Alterations in APP/PS1 Female Mice.Cellular and molecular neurobiology · 2026Article
- Decreased GABA levels during development result in increased connectivity in the larval zebrafish tectum.bioRxiv : the preprint server for biology · 2024Article
- Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.Nature medicine · 2024Article
- Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.Neurochemical research · 2023Review
- Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.International journal of molecular sciences · 2023Review
- Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.Molecular genetics and metabolism · 2022Review
- Importance of lipids for upper motor neuron health and disease.Seminars in cell & developmental biology · 2021Review
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant inBrain communications · 2021Article
- Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy: A survey study.Neurology · 2020Review
- Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.Brain : a journal of neurology · 2020Article
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.Brain : a journal of neurology · 2020Article
- Inborn errors of enzymes in glutamate metabolism.Journal of inherited metabolic disease · 2020Review
- Quantification of aminobutyric acids and their clinical applications as biomarkers for osteoporosis.Communications biology · 2020Article
- Bypassing Glutamic Acid Decarboxylase 1 (Gad1) Induced Craniofacial Defects with a Photoactivatable Translation Blocker Morpholino.ACS chemical neuroscience · 2019Article
- Targeted resequencing identifies genes with recurrent variation in cerebral palsy.NPJ genomic medicine · 2019Article
- GAD1 alternative transcripts and DNA methylation in human prefrontal cortex and hippocampus in brain development, schizophrenia.Molecular psychiatry · 2018Article
- Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.Translational psychiatry · 2018Article
- Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.NPJ genomic medicine · 2018Article
- [Advances in genetic research of cerebral palsy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Review
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundCerebral 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.
methodsHere we present data that refine this locus to a 0.5 cM region, flanked by the microsatellite markers D2S2345 and D2S326. The minimal region contains the candidate gene GAD1, which encodes a glutamate decarboxylase isoform (GAD67), involved in conversion of the amino acid and excitatory neurotransmitter glutamate to the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
resultsA novel amino acid mis-sense mutation in GAD67 was detected, which segregated with CP in affected individuals.
conclusionsThis result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS), epilepsy, cerebellar ataxia and Batten disease. Further investigation seems merited of the possibility that variation in the GAD1 sequence, potentially affecting glutamate/GABA ratios, may underlie this form of spastic CP, given the presence of anti-GAD antibodies in SPS and the recognised excitotoxicity of glutamate in various contexts.
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