Spinocerebellar ataxia (SCA)

Definition:

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during SCA disease progression.

References:

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[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]

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[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]

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[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]

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