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Spinocerebellar ataxia type 12.
O'Hearn E, Holmes SE, Margolis RL. O'Hearn E, et al. Handb Clin Neurol. 2012;103:535-47. doi: 10.1016/B978-0-444-51892-7.00034-6. Handb Clin Neurol. 2012. PMID: 21827912 Review.
Action tremor is the usual presenting sign. Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ataxia. In the index SCA12 kindred, which resides in North America and is of German ancestry, parkinsonism, anxiety, depression, and cognit …
Action tremor is the usual presenting sign. Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ata …
Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X, Wang L, Chen J, Kang C, Li J. Liu X, et al. Medicine (Baltimore). 2021 Dec 17;100(50):e28008. doi: 10.1097/MD.0000000000028008. Medicine (Baltimore). 2021. PMID: 34918652 Free PMC article. Review.
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, gait, and limbs, cerebellar dysarthria, and cerebellar and supranuclear eye movement disorders. ...INTERVENTIONS: The patients did not receive …
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, ga …
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium; Dudding-Byth T, Boycott KM. Zambonin JL, et al. Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Orphanet J Rare Dis. 2017. PMID: 28659154 Free PMC article. Review.
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. ...Gait ataxia was present in all individuals …
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia c …
[Spinocerebellar ataxia type 31].
Ishikawa K, Sato N, Niimi Y, Amino T, Mizusawa H. Ishikawa K, et al. Rinsho Shinkeigaku. 2010 Nov;50(11):985-7. doi: 10.5692/clinicalneurol.50.985. Rinsho Shinkeigaku. 2010. PMID: 21921537 Review. Japanese.
Spinocerebellar ataxia type 31 (SCA31) is a relatively common degenerative ataxia in Japan. ...
Spinocerebellar ataxia type 31 (SCA31) is a relatively common degenerative ataxia in Japan. ...
Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Ghosh Dastidar R, Banerjee S, Lal PB, Ghosh Dastidar S. Ghosh Dastidar R, et al. Mol Neurobiol. 2024 Jul;61(7):3788-3808. doi: 10.1007/s12035-023-03768-z. Epub 2023 Nov 28. Mol Neurobiol. 2024. PMID: 38012514 Free PMC article. Review.
Mutations in AFG3L2 lead to diseases like slow progressive ataxia, which is a neurological disorder. This review delineates the cellular functions of AFG3L2 and its dysfunction that leads to major clinical outcomes, which include spinocerebellar ataxia typ …
Mutations in AFG3L2 lead to diseases like slow progressive ataxia, which is a neurological disorder. This review delineates the cellu …
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M. Tranchant C, et al. Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Rev Neurol (Paris). 2016. PMID: 27476418 Review.
Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic …
Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF …
Cerebellar ataxias: beta-III spectrin's interactions suggest common pathogenic pathways.
Perkins E, Suminaite D, Jackson M. Perkins E, et al. J Physiol. 2016 Aug 15;594(16):4661-76. doi: 10.1113/JP271195. Epub 2016 Apr 24. J Physiol. 2016. PMID: 26821241 Free PMC article. Review.
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders all characterised by postural abnormalities, motor deficits and cerebellar degeneration. ...Heterozygous mutations in the gene encoding beta-III spectrin (SPTBN2) underlie SCA type …
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders all characterised by postural abnormalities, …
Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
Pedroso JL, França MC Jr, Braga-Neto P, D'Abreu A, Saraiva-Pereira ML, Saute JA, Teive HA, Caramelli P, Jardim LB, Lopes-Cendes I, Barsottini OG. Pedroso JL, et al. Mov Disord. 2013 Aug;28(9):1200-8. doi: 10.1002/mds.25513. Epub 2013 Jun 17. Mov Disord. 2013. PMID: 23775899 Review.
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this …
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwi …
Abnormal intracellular ca(2+)homeostasis and disease.
Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, Raeymaekers L, Nilius B, Eggermont J, De Smedt H. Missiaen L, et al. Cell Calcium. 2000 Jul;28(1):1-21. doi: 10.1054/ceca.2000.0131. Cell Calcium. 2000. PMID: 10942700 Review.
Mutated Ca(2+)channels in the photoreceptor plasma membrane cause vision problems. Hemiplegic migraine, spinocerebellar ataxia type-6, one form of episodic ataxia and some forms of epilepsy can be due to mutations in plasma-membrane Ca(2+)channels, whi …
Mutated Ca(2+)channels in the photoreceptor plasma membrane cause vision problems. Hemiplegic migraine, spinocerebellar ataxia …
Emerging pathogenic pathways in the spinocerebellar ataxias.
Carlson KM, Andresen JM, Orr HT. Carlson KM, et al. Curr Opin Genet Dev. 2009 Jun;19(3):247-53. doi: 10.1016/j.gde.2009.02.009. Epub 2009 Apr 1. Curr Opin Genet Dev. 2009. PMID: 19345087 Free PMC article. Review.
The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, 28 autosomal dominant SCAs have been described and seventeen causative genes identified. ...
The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, 28 …
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