Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology - PubMed (original) (raw)
Case Reports
Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology
Masaki Takao et al. BMJ Case Rep. 2011.
Abstract
Clinical phenotype of individuals with spinocerebellar ataxia 2 (SCA2) is characterised by cerebellar ataxia and cognitive impairment. Although L-dopa-responsive Parkinsonism is considered as a rare clinical presentation in SCA2, it has been brought to the attention of many neurologists in several studies. The authors report an autopsy case of SCA2 with Parkinsonism from a Japanese family using archival materials of our Brain Bank to describe unique neuropathologic findings. The individual clinically showed Parkinsonism as a predominant phenotype instead of cerebellar ataxia. Besides the classic SCA2 neuropathologic alterations, Lewy bodies and Lewy neurites were present in the brainstem nuclei. Genetic analysis revealed shorter abnormal expansion of CAG repeats (less than 39). In contrast, the authors could not find α-synuclein pathology in two SCA2 cases without Parkinsonism. The present case will provide a neuropathologic evidence of correlation between α-synucleinopathy and Parkinsonism of SCA2 as well as shed light on understanding the pathomechanism of Parkinsonism in SCA2.
Conflict of interest statement
Competing interests None.
Figures
Figure 1
Brain MRI (T2 weighted image) shows severe atrophy of the cerebellum and pons with hot-cross bun sign.
Figure 2
Neuropathologic results. Sections of the substantia nigra (A, C, D), basis pontis (B) and locus coeruleus (E). (A) Severe neuronal loss is evident in the substantia nigra. Note: The inset shows severe depigmentation at the level of the substantia nigra. (B) A photomicrograph shows severe loss of neurons and transverse fibres at the level of basis pontis. (C, D) Lewy bodies are seen in a remaining neuron. Lewy body is immunopositive using antibody raised against α-synuclein. (E) A-synuclein immunopositive Lewy neurites are seen. H&E stain (A, C), Klüver-Barrera stain (B), immunohistochemistry using monoclonal antibody specific for α-synuclein phosphorylated at Ser129 (D, E). Scale bars: A=200 μm, B=500 μm, C, D, E=25 μm.
Similar articles
- Parkinsonism in spinocerebellar ataxia.
Park H, Kim HJ, Jeon BS. Park H, et al. Biomed Res Int. 2015;2015:125273. doi: 10.1155/2015/125273. Epub 2015 Mar 19. Biomed Res Int. 2015. PMID: 25866756 Free PMC article. Review. - The parkinsonian phenotype of spinocerebellar ataxia type 2.
Lu CS, Wu Chou YH, Kuo PC, Chang HC, Weng YH. Lu CS, et al. Arch Neurol. 2004 Jan;61(1):35-8. doi: 10.1001/archneur.61.1.35. Arch Neurol. 2004. PMID: 14732617 - No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra.
Schöls L, Reimold M, Seidel K, Globas C, Brockmann K, Hauser TK, Auburger G, Bürk K, den Dunnen W, Reischl G, Korf HW, Brunt ER, Rüb U. Schöls L, et al. Brain. 2015 Nov;138(Pt 11):3316-26. doi: 10.1093/brain/awv255. Epub 2015 Sep 11. Brain. 2015. PMID: 26362908 - [Autopsy case of SCA2 with Parkinsonian phenotype].
Yomono HS, Kurisaki H, Hebisawa A, Sakiyama Y, Saito Y, Murayama S. Yomono HS, et al. Rinsho Shinkeigaku. 2010 Mar;50(3):156-62. doi: 10.5692/clinicalneurol.50.156. Rinsho Shinkeigaku. 2010. PMID: 20235484 Japanese. - Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ. Furtado S, et al. Mov Disord. 2004 Jun;19(6):622-9. doi: 10.1002/mds.20074. Mov Disord. 2004. PMID: 15197699 Review.
Cited by
- Alpha-Synuclein and Lipids: The Elephant in the Room?
Sarchione A, Marchand A, Taymans JM, Chartier-Harlin MC. Sarchione A, et al. Cells. 2021 Sep 17;10(9):2452. doi: 10.3390/cells10092452. Cells. 2021. PMID: 34572099 Free PMC article. Review. - The Respiratory Phenotype of Rodent Models of Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia.
Fusco AF, McCall AL, Dhindsa JS, Pucci LA, Strickland LM, Kahn AF, ElMallah MK. Fusco AF, et al. J Neuroinflamm Neurodegener Dis. 2019;3(1):100011. Epub 2019 Nov 1. J Neuroinflamm Neurodegener Dis. 2019. PMID: 31893284 Free PMC article. - Pathogenic Aspects and Therapeutic Avenues of Autophagy in Parkinson's Disease.
Kinet R, Dehay B. Kinet R, et al. Cells. 2023 Feb 15;12(4):621. doi: 10.3390/cells12040621. Cells. 2023. PMID: 36831288 Free PMC article. Review. - Genetic Movement Disorders Commonly Seen in Asians.
Jagota P, Lim SY, Pal PK, Lee JY, Kukkle PL, Fujioka S, Shang H, Phokaewvarangkul O, Bhidayasiri R, Mohamed Ibrahim N, Ugawa Y, Aldaajani Z, Jeon B, Diesta C, Shambetova C, Lin CH. Jagota P, et al. Mov Disord Clin Pract. 2023 May 8;10(6):878-895. doi: 10.1002/mdc3.13737. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332644 Free PMC article. Review. - Parkinsonism in spinocerebellar ataxia.
Park H, Kim HJ, Jeon BS. Park H, et al. Biomed Res Int. 2015;2015:125273. doi: 10.1155/2015/125273. Epub 2015 Mar 19. Biomed Res Int. 2015. PMID: 25866756 Free PMC article. Review.
References
- Lastres-Becker I, Rüb U, Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum 2008;7:115–24 - PubMed
- Estrada R, Galarraga J, Orozco G, et al. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol 1999;97:306–10 - PubMed
- Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010;9:885–94 - PubMed
- Shan DE, Soong BW, Sun CM, et al. Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism. Ann Neurol 2001;50:812–15 - PubMed
- Lu CS, Wu Chou YH, Kuo PC, et al. The parkinsonian phenotype of spinocerebellar ataxia type 2. Arch Neurol 2004;61:35–8 - PubMed
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Research Materials