De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation

Wang Y, Matsuda S, Drews V, Torashima T, Meisler MH, Yuzaki M. A hot spot for hotfoot mutations in the gene encoding the δ2 glutamate receptor. Eur J Neurosci. 2003;17.

Hills LB, Masri A, Konno K, Kakegawa W, Lam ATN, Lim-Melia E et al. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013;81.

Landsend AS, Amiry-Moghaddam M, Matsubara A, Bergersen L, Usami SI, Wenthold RJ et al. Differential localization of δ glutamate receptors in the rat cerebellum: coexpression with AMPA receptors in parallel fiber-spine synapses and absence from climbing fiber-spine synapses. J Neurosci. 1997;17.

Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S et al. GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Neurology. 2015;84.

Koh K, Shimazaki H, Ogawa M, Takiyama Y. A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia. Hum Genome Var. 2022;9.

Kakegawa W, Miyoshi Y, Hamase K, Matsuda S, Matsuda K, Kohda K et al. D-Serine regulates cerebellar LTD and motor coordination through the δ glutamate receptor. Nat Neurosci. 2011;14.

Uemura T, Lee SJ, Yasumura M, Takeuchi T, Yoshida T, Ra M et al. Trans-synaptic interaction of GluRδ2 and neurexin through Cbln1 mediates synapse formation in the cerebellum. Cell. 2010;141.

Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X et al. Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia. JAMA Neurol [Internet]. 2014 [cited 2024 Jul 4];71:1237. https://pubmed.ncbi.nlm.nih.gov/25133958/#:~:text=Conclusions%20and%20relevance%3A%20This%20study,one%2Dthird%20to%20guide%20additional

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, et al. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurol. 2018;75:591–9.

Article  PubMed  PubMed Central  Google Scholar 

Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M et al. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants. Hum Mol Genet. 2024;33.

Norman DJ, Feng L, Cheng SS, Gubbay J, Chan E, Heintz N. The lurcher gene induces apoptotic death in cerebellar Purkinje cells. Development. 1995;121.

Zuo J, De Jager PL, Takahashi KA, Jiang W, Linden DJ, Heintz N. Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene. Nature. 1997;388(6644):769–73. https://doi.org/10.1038/42009.

Cheng SSW, Heintz N. Massive Loss of Mid- and Hindbrain Neurons during Embryonic Development of Homozygous Lurcher Mice. Journal of Neuroscience [Internet]. 1997 [cited 2024 Aug 16];17:2400–7. https://www.jneurosci.org/content/17/7/2400

Hills LB, Masri A, Konno K, Kakegawa W, Lam ATN, Lim-Melia E et al. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology [Internet]. 2013 [cited 2024 Jul 4];81:1378–86. https://pubmed.ncbi.nlm.nih.gov/24078737/

Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F et al. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet Med [Internet]. 2015 [cited 2024 Jul 4];17:291–9. https://pubmed.ncbi.nlm.nih.gov/25122145/

Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S et al. Exome sequencing in mostly consanguineous arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016;9.

Shamseldin HE, Maddirevula S, Faqeih E, Ibrahim N, Hashem M, Shaheen R, et al. Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. Genet Sci. 2017;19:593–8.

Google Scholar 

Veerapandiyan A, Enner S, Thulasi V, Ming X. A Rare Syndrome of GRID2 Deletion in 2 Siblings. Child Neurol Open [Internet]. 2017 [cited 2024 Jul 4];4:2329048X1772616. https://www.researchgate.net/publication/319228379_A_Rare_Syndrome_of_GRID2_Deletion_in_2_Siblings

Ali Z, Zulfiqar S, Klar J, Wikström J, Ullah F, Khan A et al. Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features. BMC Med Gen. 2017;18(1):144. https://doi.org/10.1186/s12881-017-0504-6

Taghdiri M, Kashef A, Abbassi G, Moshtagh A, Sadatian N, Fardaei M et al. Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient. Clin Case Rep [Internet]. 2019 [cited 2024 Jul 4];7:1149–53. https://pubmed.ncbi.nlm.nih.gov/31183084/

Ceylan AC, Acar Arslan E, Erdem HB, Kavus H, Arslan M, Topaloğlu H. Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. Acta Neurol Belg [Internet]. 2021 [cited 2024 Jul 4];121:1457–62. https://pubmed.ncbi.nlm.nih.gov/32170608/

Utine GE, Haliloǧlu G, Salanci B, Çetinkaya A, Kiper PÖ, Alanay Y et al. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J Child Neurol [Internet]. 2013 [cited 2024 Jul 4];28:926–32. https://pubmed.ncbi.nlm.nih.gov/23611888/

Panda PK, Sharawat IK, Dawman L. GRID2 mutation-related Spinocerebellar Ataxia Type 18: a New Report and Literature Review. J Pediatr Genet. 2022;11:099–109.

Article  Google Scholar 

Renaud M, Tranchant C, Koenig M, Anheim M. Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker. Movement Disorders. 2020.

Kamate M, Basavanagowda T. ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein. Cerebellum. 2023.

Reichlmeir M, Canet-Pons J, Koepf G, Nurieva W, Duecker RP, Doering C et al. In cerebellar atrophy of 12-Month-Old ATM-Null mice, Transcriptome Upregulations concern most neurotransmission and Neuropeptide Pathways, while Downregulations affect prominently Itpr1, Usp2 and non-coding RNA. Cells. 2023;12.

Rozier L, El-Achkar E, Apiou F, Debatisse M. Characterization of a conserved aphidicolin-sensitive common fragile site at human 4q22 and mouse 6C1: possible association with an inherited disease and cancer. Oncogene. 2004;23.

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