Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings

Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The den...

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Bibliographic Details
Published in:American journal of neuroradiology : AJNR 2003-06, Vol.24 (6), p.1188-1191
Main Authors: Rossi, Andrea, Biancheri, Roberta, Bruno, Claudio, Di Rocco, Maja, Calvi, Angela, Pessagno, Alice, Tortori-Donati, Paolo
Format: Article
Language:English
Subjects:
Base Pairing - genetics
Biological and medical sciences
Brain - pathology
Brain Diseases, Metabolic - diagnosis
Brain Diseases, Metabolic - genetics
Child, Preschool
Chromosome Deletion
Cytochrome-c Oxidase Deficiency - diagnosis
Cytochrome-c Oxidase Deficiency - genetics
Diagnosis, Differential
DNA Mutational Analysis
Errors of metabolism
Exons
Fatal Outcome
Female
Follow-Up Studies
Genetic Carrier Screening
Humans
Infant
Infant, Newborn
Introns
Leigh Disease - diagnosis
Leigh Disease - genetics
Magnetic Resonance Imaging
Male
Medical sciences
Membrane Proteins
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Mitochondrial Proteins
Mutation - genetics
Pediatrics
Proteins - genetics
Spinal Cord - pathology
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Summary:Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations.
ISSN:0195-6108
1936-959X