, Volume 122, Issue 3, pp 375-378
Date: 10 Aug 2011

Spinocerebellar ataxia type 2 (SCA2) is associated with TDP-43 pathology

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Abnormality of the nuclear protein TDP-43 is associated with amyotrophic lateral sclerosis (ALS), a usually sporadic, fatal neurological disease. Recently, the yeast ortholog of ataxin 2, Pbp 1, was shown to enhance the toxicity of TDP-43 [1], and ataxin 2 intermediate-length polyglutamine (polyQ) expansions were found to be associated with ALS [1, 2]. Ataxin 2 is a polyQ protein that is mutated in spinocerebellar ataxia type 2 (SCA2), an autosomal-dominant neurological disease, by an expansion of CAG repeats in the SCA2 gene (ATXN2).

In the present study, we performed an immunohistochemical examination of phosphorylated TDP-43 (pTDP-43), the pathological form of TDP-43, in various regions of the brain and spinal cord in a patient with SCA2. We found that pTDP-43 neuronal cytoplasmic inclusions (NCIs), although small in number in individual regions, occurred widely in the central nervous system (CNS), except the lower motor neuron system.

Examination of the patient’s family history revea ...