title: Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
abstract: BACKGROUND
  Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to describe the phenotypic and imaging features in four patients with Leigh syndrome and novel SURF1 mutation.
  
  
  METHODS
  The study included four patients with Leigh syndrome and SURF1 mutations identified from a cohort of 25 children with Leigh syndrome seen over a period of six years (2006-2012). All the patients underwent a detailed neurological assessment, muscle biopsy, and sequencing of the complete mitochondrial genome and SURF1.
  
  
  RESULTS
  Three patients had classical presentation of Leigh syndrome. The fourth patient had a later age of onset with ataxia as the presenting manifestation and a stable course. Hypertrichosis, facial dysmorphism and hypopigmentation were the additional phenotypic features noted. On magnetic resonance imaging all patients had brainstem and cerebellar involvement and two had basal ganglia involvement in addition. The bilateral symmetrical hypertrophic olivary degeneration in these patients was striking. The SURF1 analysis identified previously unreported mutations in all the patients. On follow-up three patients expired and one had a stable course.
  
  
  CONCLUSIONS
  Patients with Leigh syndrome and SURF1 mutation often have skin and hair abnormalities. Bilateral symmetrical hypertrophic olivary degeneration was a consistent finding on magnetic resonance imaging in these patients.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: sonamkothari86@yahoo.com.
authors.forename: Kothari
authors.initials: K
authors.lastname: Sonam
authors.affiliation: Department of Evolutionary and Medical Genetics, Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India. Electronic address: nahid.ibu@gmail.com.
authors.forename: Nahid Akthar
authors.initials: NA
authors.lastname: Khan
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: drpsbindu@yahoo.co.in.
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: abtaly@yahoo.com.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: gayathrin12@rediffmail.com.
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.affiliation: Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: bharath.nimhans@nic.in.
authors.forename: M M Srinivas
authors.initials: MM
authors.lastname: Bharath
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: drgobiraj_76@yahoo.com.
authors.forename: C
authors.initials: C
authors.lastname: Govindaraju
authors.affiliation: Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: aravind.radiology@gmail.com.
authors.forename: H R
authors.initials: HR
authors.lastname: Arvinda
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: madhu_nagappa@yahoo.co.in.
authors.forename: Madhu
authors.initials: M
authors.lastname: Nagappa
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: sanjib_sinha2004@yahoo.co.in.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.affiliation: Department of Evolutionary and Medical Genetics, Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India. Electronic address: thangs@ccmb.res.in.
authors.forename: K
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein
keywords: COX deficiency; Dentate nucleus; Inferior olivary nucleus; Leigh syndrome; SURF1 mutation