Leigh Syndrome: Clinical and Neuroimaging Follow-Up

Lee, Hsiu-Fen; Tsai, Chi-Ren; Chi, Ching‐Shiang; Lee, Huei-Jane; Chen, Clayton Chi‐Chang

doi:10.1016/j.pediatrneurol.2008.09.020

Cited by 78 publications

(80 citation statements)

References 25 publications

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“…Structural pathology of the brain lesions shows vascular proliferation, demyelination, gliosis, and necrosis [38][39][40][41][42]. The typical anatomic distribution of the lesions is seen in brainstem, diencephalon, basal ganglia, and cerebellum.…”

Section: Focal Lesions In Deep Gray Matter Structuresmentioning

confidence: 99%

Neuroimaging in Mitochondrial Disorders

Gropman

2013

Neurotherapeutics

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Section: Focal Lesions In Deep Gray Matter Structuresmentioning

confidence: 99%

Neuroimaging in Mitochondrial Disorders

Gropman

2013

Neurotherapeutics

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“…The clinical features of adult LD were quite different from those in infant or childhood cases 29,30 .…”

Section: )Introductionmentioning

confidence: 71%

“…Ophthalmoplegia and ataxia were reported in only 35% and 31% of children with LD, respectively 29,30 .…”

Section: Characteristics and Clinical Manifestationmentioning

confidence: 99%

Adult Leigh Disease Without Failure to Thrive

et al. 2011

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“…Leigh syndrome is an early-onset progressive neurodegenerative disorder associated with abnormal MRI T2 signals in the basal ganglia. 48 Brain MRI revealed such abnormal hypersignals in the three WS patients who shared this variant. They also showed increased CSF lactate levels, a common feature in Leigh syndrome.…”

Section: Discussionmentioning

confidence: 87%

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

et al. 2015

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West syndrome (WS), defined by the triad of infantile spasms, pathognomonic hypsarrhythmia and developmental regression, is a rare epileptic disease affecting about 1:3500 live births. To get better insights on the genetic of this pathology, we exomesequenced the members of a consanguineous family affected with isolated WS. We identified a homozygous variant (c.1825G4T/p.(Ala609Ser)) in the GUF1 gene in the three affected siblings. GUF1 encodes a protein essential in conditions that counteract faithful protein synthesis: it is able to remobilize stuck ribosomes and transiently inhibit the elongation process to optimize protein synthesis. The variant identified in the WS family changes an alanine residue conserved in all eukaryotic organisms and positioned within the tRNA-binding moiety of this nuclear genome-encoded mitochondrial translational elongation factor. Yeast complementation assays show that the activity of GUF1 A609S is modified in suboptimal environments. We suggest a new link between improper assembly of respiratory chain complexes and WS.

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Leigh Syndrome: Clinical and Neuroimaging Follow-Up

Cited by 78 publications

References 25 publications

Neuroimaging in Mitochondrial Disorders

Neuroimaging in Mitochondrial Disorders

Adult Leigh Disease Without Failure to Thrive

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

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