Leigh syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Leigh syndrome: clinical features. The mutations may arise de novo. Fully referenced neurology checklist.
Genetics
- The mutations may arise de novo
- The transmission may be autosomal recessive or X-linked
Genetic mutations
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Onset features
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Systemic features
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Neurological features
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Ophthalmic features
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Late onset Leigh syndrome
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Differential diagnosis
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References
- Baertling F, Rodenburg RJ, Schaper J, et al. A guide to diagnosis and treatment of Leigh syndrome. JNNP 2014; 85:257-265.
- Yang YL, Sun F, Zhang Y, et al. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chin Med J (Engl) 2006; 119:373-377.
- Martín MA, Blázquez A, Gutierrez-Solana LG, et al. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol 2005; 62:659-661.
- Lee IC, El-Hattab AW, Wang J, et al. SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat 2012; 33:1192-1200.
- Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics 2005; 36:314-318.
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