{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Haddad S"],"funding":["NINDS NIH HHS","Wellcome Trust"],"pagination":["e70064"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11807841"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["32(2)"],"pubmed_abstract":["<h4>Background</h4>Biallelic variants in polyribonucleotide-nucleotidyltransferase-1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1, have been reported in three families with cerebellar ataxia and prominent sensory neuropathy.<h4>Methods</h4>Whole genome sequencing was performed in two families with autosomal dominant sensory ataxic neuropathy (SAN).<h4>Results</h4>Segregating heterozygous splice site (c.2014-3C>G) and nonsense (p.Arg715Ter) variants were detected in both families. All patients initially presented with an isolated SAN clinically and neurophysiologically with subsequent variable cerebellar involvement.<h4>Conclusion</h4>We report two heterozygous PNPT1 variants in two fam"],"journal":["European journal of neurology"],"pubmed_title":["Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy."],"pmcid":["PMC11807841"],"funding_grant_id":["U54 NS065712"],"pubmed_authors":["Rossor AM","Manzur A","Self E","Skorupinska M","Ingle G","Reilly MM","Laura M","Haddad S","Muntoni F","Blake JC","Record CJ"],"additional_accession":[]},"is_claimable":false,"name":"Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.","description":"<h4>Background</h4>Biallelic variants in polyribonucleotide-nucleotidyltransferase-1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1, have been reported in three families with cerebellar ataxia and prominent sensory neuropathy.<h4>Methods</h4>Whole genome sequencing was performed in two families with autosomal dominant sensory ataxic neuropathy (SAN).<h4>Results</h4>Segregating heterozygous splice site (c.2014-3C>G) and nonsense (p.Arg715Ter) variants were detected in both families. All patients initially presented with an isolated SAN clinically and neurophysiologically with subsequent variable cerebellar involvement.<h4>Conclusion</h4>We report two heterozygous PNPT1 variants in two fam","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2025-04-04T02:55:58.927Z","creation":"2025-04-04T02:55:58.927Z"},"accession":"S-EPMC11807841","cross_references":{"pubmed":["39924761"],"doi":["10.1111/ene.70064"]}}