Article

Compound heterozygous mutations in the TPP1 gene causes the rare Autosomal recessive spinocerebellar ataxia type 7 : A case report and review

2022-11-29

Abstract excerpt

<h4>Background: </h4> Spinocerebellar ataxia type (SCA) type 7 is an inherited neurological disorder that can be inherited as autosomal dominant, autosomal recessive, X-linked, or mitochondrial. In clinical practice, the most common type of SCA7 is autosomal dominant, and the autosomal recessive spinocerebellar ataxia 7 (SCAR7) has been rarely reported. Here, we report the first case of SCAR7 from China with compo...

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Literature Corpus work: 807fa857-ef34-5029-81e3-04752de08479
DOI: 10.21203/rs.3.rs-2290300/v1

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