biostudies-literatureHaddad SNINDS NIH HHSWellcome Truste70064https://www.ebi.ac.uk/biostudies/studies/S-EPMC11807841biostudies-literatureUnknown32(2)<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 famEuropean journal of neurologyHeterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.PMC11807841U54 NS065712Rossor AMManzur ASelf ESkorupinska MIngle GReilly MMLaura MHaddad SMuntoni FBlake JCRecord CJfalseHeterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.<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 fam2025-01-01T00:00:00Z2025 Feb2025-04-04T02:55:58.927Z2025-04-04T02:55:58.927ZS-EPMC118078413992476110.1111/ene.70064