Article

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): A family with five affected sibs from Turkey

2024-04-09

Abstract excerpt

<title>Abstract</title> <p>Background Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is one of the more common causes of late-onset progressive ataxia. The genetic background was disclosed by the identification of biallelic pentanucleotide AAGGG repeat expansion in intron 2 of the replication factor complex subunit 1 (RFC1) gene. Case presentation: In this article, the first molecularl...

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Literature Corpus work: 4818405d-8bed-5734-a789-f1be8203721e
DOI: 10.21203/rs.3.rs-4186734/v1

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