Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA

Stefano Zoccolella, Alessandra Torraco, Angela Amati, Paolo Lamberti, Luigi Serlenga, Sergio Papa, Vittoria Petruzzella

Research output: Contribution to journalArticle

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 prese ntation 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.

Original languageEnglish
Pages (from-to)39-41
Number of pages3
JournalFunctional Neurology
Volume21
Issue number1
Publication statusPublished - Jan 2006

Keywords

  • Cerebellar ataxia
  • Kearns-Sayre syndrome
  • Mitochondrial DNA deletion

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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    Zoccolella, S., Torraco, A., Amati, A., Lamberti, P., Serlenga, L., Papa, S., & Petruzzella, V. (2006). Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA. Functional Neurology, 21(1), 39-41.