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.

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Conflict of interest statement

Competing interests None.

Figures

Figure 1

Figure 1

Brain MRI (T2 weighted image) shows severe atrophy of the cerebellum and pons with hot-cross bun sign.

Figure 2

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.

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