A guide to diagnosis and treatment of Leigh syndrome

F Baertling, RJ Rodenburg, J Schaper… - Journal of Neurology …, 2014 - jnnp.bmj.com
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy
or early childhood. However, also late-onset cases have been reported. Since its first …

Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options

M Gerards, SCEH Sallevelt, HJM Smeets - Molecular genetics and …, 2016 - Elsevier
Leigh syndrome is a progressive neurodegenerative disorder, affecting 1 in 40,000 live
births. Most patients present with symptoms between the ages of three and twelve months …

Leigh syndrome: clinical and neuroimaging follow-up

HF Lee, CR Tsai, CS Chi, HJ Lee, CCC Chen - Pediatric neurology, 2009 - Elsevier
Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited,
heterogeneous, and progressive neurodegenerative disorder of infancy and childhood …

Atypical presentations of leigh syndrome: a case series and review

RJ Huntsman, DB Sinclair, R Bhargava, A Chan - Pediatric neurology, 2005 - Elsevier
Patients with Leigh syndrome classically present in early childhood with developmental
regression, ataxia, and hypotonia with subsequent respiratory and brainstem dysfunction …

The neuroimaging of Leigh syndrome: case series and review of the literature

E Bonfante, MK Koenig, RB Adejumo, V Perinjelil… - Pediatric …, 2016 - Springer
Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms,(2)
caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied …

Leigh syndrome: one disorder, more than 75 monogenic causes

NJ Lake, AG Compton, S Rahman… - Annals of …, 2016 - Wiley Online Library
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …

Leigh and Leigh-like syndrome in children and adults

J Finsterer - Pediatric neurology, 2008 - Elsevier
Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating
neurodegenerative disorder, characterized by almost identical brain changes, eg, focal …

A multicenter study on Leigh syndrome: disease course and predictors of survival

K Sofou, IFM De Coo, P Isohanni, E Ostergaard… - Orphanet journal of rare …, 2014 - Springer
Background Leigh syndrome is a progressive neurodegenerative disorder, associated with
primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite …

Pediatric Leigh syndrome: neuroimaging features and genetic correlations

CAPF Alves, SR Teixeira… - Annals of …, 2020 - Wiley Online Library
The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based
on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic …

Molecular basis of Leigh syndrome: a current look

M Schubert Baldo, L Vilarinho - Orphanet journal of rare diseases, 2020 - Springer
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in
mitochondrial energy production that usually starts in early childhood. The first description …