Spinocerebellar ataxia (SCA)

[1]. Ana I Seixas, et al. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. Am J Hum Genet. 2017 Jul 6;101(1):87-103. [Content Brief]

[2]. Anna Duarri, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2012 Dec;72(6):870-80. [Content Brief]

[3]. Antoni Matilla-Dueñas, et al. Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum. 2010 Jun;9(2):148-66. [Content Brief]

[4]. Bing-wen Soong, et al. Spinocerebellar ataxias: an update. Curr Opin Neurol. 2007 Aug;20(4):438-46. [Content Brief]

[5]. Chantal Depondt, et al. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol Genet. 2016 Aug 18;2(5):e94. [Content Brief]

[6]. Daniela Di Bella, et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010 Apr;42(4):313-21. [Content Brief]

[7]. David Genis, et al. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology. 2018 Nov 20;91(21):e1988-e1998. [Content Brief]

[8]. Dobrila D Rudnicki, et al. Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Expert Rev Mol Med. 2003 Aug 22;5(21):1-24. [Content Brief]

[9]. Dong-Hui Chen, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003 Apr;72(4):839-49. [Content Brief]

[10]. Eleonora Di Gregorio, et al. ELOVL5 mutations cause spinocerebellar ataxia 38. Am J Hum Genet. 2014 Aug 7;95(2):209-17. [Content Brief]

[11]. Esther A R Nibbeling, et al. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain. 2017 Nov 1;140(11):2860-2878. [Content Brief]

[12]. Esther B E Becker, et al. Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum. 2011 Jun;10(2):296-9. [Content Brief]

[13]. G David, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997 Sep;17(1):65-70. [Content Brief]

[14]. Georgy Bakalkin, et al. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet. 2010 Nov 12;87(5):593-603. [Content Brief]

[15]. Hatasu Kobayashi, et al. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet. 2011 Jul 15;89(1):121-30. [Content Brief]

[16]. Henry Houlden, et al. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. [Content Brief]

[17]. Henry L Paulson, et al. Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3. Semin Neurol. 2007 Apr;27(2):133-42. [Content Brief]

[18]. Ho Tsoi, et al. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet. 2014 Sep;51(9):590-5. [Content Brief]

[19]. Jean Chemin, et al. Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability. J Physiol. 2002 Apr 1;540(Pt 1):3-14. [Content Brief]

[20]. Jérôme Delplanque, et al. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain. 2014 Oct;137(Pt 10):2657-63. [Content Brief]

[21]. John C van Swieten, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet. 2003 Jan;72(1):191-9. [Content Brief]

[22]. Joyce van de Leemput, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007 Jun;3(6):e108. [Content Brief]

[23]. K Bürk, et al. Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol. 1999 Sep;246(9):789-97. [Content Brief]

[24]. Katherine E Hekman, et al. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet. 2012 Dec 15;21(26):5472-83. [Content Brief]

[25]. Lauren M Watson, et al. Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. Am J Hum Genet. 2017 Sep 7;101(3):451-458. [Content Brief]

[26]. Lijia Huang, et al. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis. 2012 Sep 17;7:67. [Content Brief]

[27]. M D Koob, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999 Apr;21(4):379-84. [Content Brief]

[28]. Marc Corral-Juan, et al. New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun. 2022 Feb 10;4(2):fcac030. [Content Brief]

[29]. Maxime Cadieux-Dion, et al. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 2014 Apr;71(4):470-5. [Content Brief]

[30]. Michael F Waters, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet. 2006 Apr;38(4):447-51. [Content Brief]

[31]. Nozomu Sato, et al. Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet. 2009 Nov;85(5):544-57. [Content Brief]

[32]. O Zhuchenko, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9. [Content Brief]

[33]. Peter Bauer, et al. Spectrin mutations in spinocerebellar ataxia (SCA). Bioessays. 2006 Aug;28(8):785-7. [Content Brief]

[34]. R Koide, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Hum Mol Genet. 1999 Oct;8(11):2047-53. [Content Brief]

[35]. Roger L Albin, et al. Dominant ataxias and Friedreich ataxia: an update. Curr Opin Neurol. 2003 Aug;16(4):507-14. [Content Brief]

[36]. Roisin Sullivan, et al. Spinocerebellar ataxia: an update. J Neurol. 2019 Feb;266(2):533-544. [Content Brief]

[37]. S E Holmes, et al. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999 Dec;23(4):391-2. [Content Brief]

[38]. T Matsuura, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct;26(2):191-4. [Content Brief]

[39]. Udo Rüb, et al. New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease). Curr Opin Neurol. 2008 Apr;21(2):111-6. [Content Brief]

[40]. Vincenzo A Gennarino, et al. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 Feb 22;172(5):924-936.e11. [Content Brief]

[41]. Yuh-Cherng Guo, et al. Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. Neurology. 2014 Oct 21;83(17):1554-61. [Content Brief]