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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1980 1
1995 4
1997 1
1998 1
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2003 1
2005 3
2006 1
2007 5
2008 2
2010 1
2011 3
2012 1
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30 results

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Page 1
Pharmacological and non-pharmacological management of spinocerebellar ataxia: A systematic review.
Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N. Yap KH, et al. J Neurol. 2022 May;269(5):2315-2337. doi: 10.1007/s00415-021-10874-2. Epub 2021 Nov 6. J Neurol. 2022. PMID: 34743220 Review.
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. ...Ten therapies had Level B recommendations for managing ataxia symptoms and requi
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inhe
Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.
Magaña JJ, Velázquez-Pérez L, Cisneros B. Magaña JJ, et al. Mol Neurobiol. 2013 Feb;47(1):90-104. doi: 10.1007/s12035-012-8348-8. Epub 2012 Sep 21. Mol Neurobiol. 2013. PMID: 22996397 Review.
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia, severe tremor of postural or action type, peripheral neuropathy, cognitive disorders, and other m
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associat
Spinocerebellar ataxia type 15.
Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E. Gardner RJ, et al. Cerebellum. 2005;4(1):47-50. doi: 10.1080/14734220410019029. Cerebellum. 2005. PMID: 15895559 Review.
Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Australia, the locus mapping to chromosomal region 3p24.2-3pter. ...
Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Aust
Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias.
Lin CR, Kuo SH, Opal P. Lin CR, et al. Curr Neurol Neurosci Rep. 2024 Mar;24(3):47-54. doi: 10.1007/s11910-024-01331-4. Epub 2024 Jan 25. Curr Neurol Neurosci Rep. 2024. PMID: 38270820 Free PMC article. Review.
PURPOSE OF REVIEW: Spinocerebellar ataxias (SCAs) are autosomal dominant degenerative syndromes that present with ataxia and brain stem abnormalities. ...RECENT FINDINGS: Recent studies suggest that patients with spinocerebellar ataxia can displ …
PURPOSE OF REVIEW: Spinocerebellar ataxias (SCAs) are autosomal dominant degenerative syndromes that present with ataxia
Molecular pathogenesis of spinocerebellar ataxia type 6.
Kordasiewicz HB, Gomez CM. Kordasiewicz HB, et al. Neurotherapeutics. 2007 Apr;4(2):285-94. doi: 10.1016/j.nurt.2007.01.003. Neurotherapeutics. 2007. PMID: 17395139 Free article. Review.
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by abnormal expansions of a trinucleotide CAG repeat in exon 47 of the CACNA1A gene, which encodes the alpha1A subunit of the P/Q-type voltage-gated calcium channel. ...Patients with
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by abnormal expansions of a trinucleotide CAG repe
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated …
Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Koeppen AH. Koeppen AH. J Neurol Sci. 2011 Apr 15;303(1-2):1-12. doi: 10.1016/j.jns.2011.01.010. J Neurol Sci. 2011. PMID: 21315377 Free PMC article. Review.
The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene. ...Destruction of the DN, optic atrophy, and degeneration of the …
The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on …
MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias.
Mascalchi M. Mascalchi M. Tomography. 2022 Feb 8;8(1):423-437. doi: 10.3390/tomography8010035. Tomography. 2022. PMID: 35202200 Free PMC article. Review.
MRI shows the three archetypal patterns of CNS volume loss underlying progressive ataxias in vivo, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA). The MRI-based CNS atrophy pattern was reviewed in 128 progressive at
MRI shows the three archetypal patterns of CNS volume loss underlying progressive ataxias in vivo, namely spinal atrophy (SA), cortic …
Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.
Singh A, Faruq M, Mukerji M, Dwivedi MK, Pruthi S, Kapoor S. Singh A, et al. J Child Neurol. 2014 Jan;29(1):139-44. doi: 10.1177/0883073813509015. Epub 2013 Dec 2. J Child Neurol. 2014. PMID: 24300164 Review.
Autosomal dominant cerebellar ataxia type I is a heterogeneous group of spinocerebellar ataxias with variable neurologic presentations, with age of onset varying from infancy to adulthood. Autosomal dominant cerebellar ataxia type I is composed mainly …
Autosomal dominant cerebellar ataxia type I is a heterogeneous group of spinocerebellar ataxias with variable neurologi …
Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations.
Kerber KA, Jen JC, Perlman S, Baloh RW. Kerber KA, et al. J Neurol Sci. 2005 Nov 15;238(1-2):41-5. doi: 10.1016/j.jns.2005.06.006. Epub 2005 Aug 16. J Neurol Sci. 2005. PMID: 16109427 Review.
Late onset cerebellar ataxia can be caused by several genetic mutations but a large percentage of patients remain undiagnosed. Thirty-eight patients with onset of slowly progressive, pure cerebellar ataxia >or=40 years-of-age were identified from a large ataxi
Late onset cerebellar ataxia can be caused by several genetic mutations but a large percentage of patients remain undiagnosed. Thirty …
30 results