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Article

Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Aug 2021

Mori Shinichiro, Honda Hiroyuki, Hamasaki Hideomi, Sasagasako Naokazu, Suzuki Satoshi O, Furuya Hirokazu, Taniwaki Takayuki, Iwaki Toru

Abstract excerpt

Spastic paraplegia type 11 (SPG11) is the most common autosomal recessive hereditary spastic paraplegia with thinning of the corpus callosum. Spatacsin, a protein encoded by the SPG11 gene, is associated with autophagy. SPG11 patients show spastic paraplegia, intellectual disability, dementia, and parkinsonism. A previous neuropathological analysis of SPG11 cases reported neurodegeneration mimicking amyotrophic...

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PMID: 34031922
DOI: 10.1111/neup.12733

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