Introduction: Leigh disease and Leigh-like syndrome are a heterogenous group of neurodegenerative disorders involving any level the neuraxis may present with variety clinical presentations, prominent among them is psychomotor regression. Despite remarkable number established genes novel mutations being discovered, many cases remain without genetic diagnosis, indicating that there still more to ...

Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this disorder, but still only explaining part of the cases. The possibility of whole exome sequencing enables not only m...

Leigh syndrome is clinically and genetically heterogeneous, associated with mutations in mitochondrial and nuclear genes.(1) Diagnostic criteria include progressive disorder with motor and intellectual delay/regression; signs and symptoms of brainstem and/or basal ganglia disease; raised lactate concentration in blood and/or CSF; and one or more of the following: (1) characteristic features on ...

BACKGROUND The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse. METHODS We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia dise...

Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...

Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to ...

With interest we read the article by Chuquilin et al. about a 20yo femalewith Leigh syndromedue to them.9176T N Cmutation in the ATP6 gene who responded favourably to plasmapheresis and immunoglobulins [1]. We have the following comments and concerns. Themain ambiguity of this report is thediagnosis. Except for the current case, Leigh syndrome has not been reported to respond to immunosuppressi...

We have investigated control of the DLR Light-Weight Robot III with DLR Five-Finger Hand by a person with tetraplegia using the BrainGate2 Neural Interface System. The goal of this research is to develop assistive technologies for people with severe physical disabilities. This shall allow them to regain some independence in the handling of objects, e.g. to drink a glass of water. First results ...

Leigh Court was called Lege in the Domesday Book. It records?"Turstin holds Lege, his father held it in King Edward's time and paid gheld for one hide . . . ." At the Conquest, the Manor was given to the Bishop of Contanus, after whose death William Rufus granted the Manor to Robert FitzHammon, whose daughter married Robert Earl of Gloucester. The Earl of Gloucester sold the Manor of Leigh to R...