{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:41:20Z","timestamp":1787064080267,"version":"build-2736575974"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T00:00:00Z","timestamp":1101772800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T00:00:00Z","timestamp":1101772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Here 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\n GAD1<\/jats:italic>\n , which encodes a glutamate decarboxylase isoform (GAD\n 67<\/jats:sub>\n ), involved in conversion of the amino acid and excitatory neurotransmitter glutamate to the inhibitory neurotransmitter \u03b3-aminobutyric acid (GABA).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A novel amino acid mis-sense mutation in GAD\n 67<\/jats:sub>\n was detected, which segregated with CP in affected individuals.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This result is interesting because auto-antibodies to GAD\n 67<\/jats:sub>\n and the more widely studied GAD\n 65<\/jats:sub>\n homologue encoded by the\n GAD2<\/jats:italic>\n 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\n GAD1<\/jats:italic>\n 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.\n \n Table 4<\/jats:label>\n \n \n GAD1<\/jats:italic>\n single nucleotide substitutions detected on mutation analysis and occurring in sequences submitted to NCBI SNP database and in the literature. This is not a definitive list, but includes those described at the time of the mutational analysis. *\n Nucleotide positions were not provided by Maestrini et al<\/jats:italic>\n . [47].\n <\/jats:p>\n <\/jats:caption>\n \n \n \n Source<\/jats:th>\n SNP position in mRNA, from the translational start site (bp)<\/jats:th>\n Gene position of SNP(bp)<\/jats:th>\n Amino acid change<\/jats:th>\n <\/jats:tr>\n <\/jats:thead>\n \n \n \n (A)Lappalainen\n et al<\/jats:italic>\n . (2002)\n <\/jats:td>\n A(-478)Del<\/jats:td>\n Exon 0 (73)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (B)Lappalainen\n et al<\/jats:italic>\n . (2002)\n <\/jats:td>\n G(-147)A<\/jats:td>\n Exon 0 (404)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (C)Lappalainen\n et al<\/jats:italic>\n . (2002)\n <\/jats:td>\n A(-39)C<\/jats:td>\n Exon 1 (25)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n (D)Spastic CP patients family B<\/jats:td>\n G(36)C<\/jats:td>\n Exon 1 (97)<\/jats:td>\n \n Ser(12)Cys<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n (E)NCBI collated resource<\/jats:td>\n G(48)C<\/jats:td>\n Exon 1 (104)<\/jats:td>\n \n Pro(17)Ala<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n (F)Control samples & family A NCBI collated resource<\/jats:td>\n T(110)C<\/jats:td>\n Exon 2 (29)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (G)Kure\n et al<\/jats:italic>\n . (1998)\n <\/jats:td>\n T(315)C<\/jats:td>\n Exon 4 (14)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (H)Bu and Tobin (1994) Kure\n et al<\/jats:italic>\n . (1998)\n <\/jats:td>\n A(407)G<\/jats:td>\n Exon 4 (105)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (I)Maestrini\n et al<\/jats:italic>\n . (2002)*\n <\/jats:td>\n G\/C<\/jats:td>\n Intron 4<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n (J)NCBI collated resource<\/jats:td>\n C(696)T<\/jats:td>\n Exon 6 (56)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (K)Lappalainen\n et al<\/jats:italic>\n . (2002)\n <\/jats:td>\n T\/Del<\/jats:td>\n Intron 7 (35)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (L)In control samples Lappalainen\n et al<\/jats:italic>\n . (2002)\n <\/jats:td>\n T\/C<\/jats:td>\n Intron 8 (185)<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n \n \n (M)Maestrini\n et al<\/jats:italic>\n . (2002)*\n <\/jats:td>\n C\/T<\/jats:td>\n Intron 9<\/jats:td>\n \n No substitution<\/jats:italic>\n <\/jats:td>\n <\/jats:tr>\n <\/jats:tbody>\n <\/jats:table>\n <\/jats:table-wrap>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1186\/1471-2377-4-20","type":"journal-article","created":{"date-parts":[[2005,1,12]],"date-time":"2005-01-12T08:55:34Z","timestamp":1105520134000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["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"],"prefix":"10.1186","volume":"4","author":[{"given":"Clare N","family":"Lynex","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian M","family":"Carr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack P","family":"Leek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajgopal","family":"Achuthan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C Geoffrey","family":"Woods","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T","family":"Bonthon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex F","family":"Markham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,11,30]]},"reference":[{"key":"45_CR1","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/S0031-3955(16)38549-2","volume":"40","author":"PS Eicher","year":"1993","unstructured":"Eicher PS, Batshaw ML: Cerebral palsy. 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