title: Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.
abstract: Kearns-Sayre syndrome (KSS) is a mitochondrial encephalomyopathy characterized by progressive external ophthalmoplegia (PEO), pigmentary retinopathy and onset before the age of 20 years. Cerebellar ataxia, as well as short stature and increased protein content in the cerebrospinal fluid, are frequent additional symptoms. A single large mitochondrial (mt) DNA deletion of 4,977 bp is the most common molecular defect in KSS. Recently, different mutations have also been associated with incomplete, KSS-like phenotypes. We describe the unusual clinical presentation of a patient carrying a novel 1,814-bp deletion of mtDNA. In contrast with typical KSS, the clinical picture of this patient did not include either palpebral ptosis or PEO and was dominated by an ataxic syndrome.
authors.affiliation: Department of Neurological Sciences, University of Bari, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Zoccolella
authors.forename: Alessandra
authors.initials: A
authors.lastname: Torraco
authors.forename: Angela
authors.initials: A
authors.lastname: Amati
authors.forename: Paolo
authors.initials: P
authors.lastname: Lamberti
authors.forename: Luigi
authors.initials: L
authors.lastname: Serlenga
authors.forename: Sergio
authors.initials: S
authors.lastname: Papa
authors.forename: Vittoria
authors.initials: V
authors.lastname: Petruzzella
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D004576:Electromyography; D017353:Gene Deletion; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial