scholarly journals Leigh Disease

2020 ◽  
Author(s):  
Keyword(s):  
Leigh Disease

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

Neurology ◽  
1996 ◽  
Vol 46 (1) ◽  
pp. 219-222 ◽  
Author(s):  
N. Howell ◽  
I. Kubacka ◽  
R. Smith ◽  
F. Frerman ◽  
J. K. Parks ◽  
...  
Keyword(s):  
Spinocerebellar Degeneration ◽  
Leigh Disease

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

2000 ◽  
Vol 48 (1) ◽  
pp. 102-104 ◽  
Author(s):  
Denise M. Kirby ◽  
Stephen G. Kahler ◽  
Mary-Louise Freckmann ◽  
Dinah Reddihough ◽  
David R. Thorburn
Keyword(s):  
Mitochondrial Dna ◽  
Leigh Disease

Clinical and molecular spectrum associated with Polymerase-γ related disorders

2022 ◽  
pp. 088307382110670
Author(s):  
Ruchika Jha ◽  
Harshkumar Patel ◽  
Rachana Dubey ◽  
Jyotindra N. Goswami ◽  
Chandana Bhagwat ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Pediatric Population ◽  
Single Gene ◽  
Management Strategies ◽  
Clinical Manifestations ◽  
Progressive External Ophthalmoplegia ◽  
Leigh Disease ◽  
Pathogenic Variants ◽  
Phenotype Analysis

Background POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. Methods Individuals were recruited across 6 centers in India. Children diagnosed between January 2015 and August 2020 with pathogenic or likely pathogenic POLG variants and age of onset <15 years were eligible. Phenotypically, patients were categorized into Alpers-Huttenlocher syndrome; myocerebrohepatopathy syndrome; myoclonic epilepsy, myopathy, and sensory ataxia; ataxia-neuropathy spectrum; Leigh disease; and autosomal dominant / recessive progressive external ophthalmoplegia. Results A total of 3729 genetic reports and 4256 hospital records were screened. Twenty-two patients with pathogenic variants were included. Phenotypically, patients were classifiable into Alpers-Huttenlocher syndrome (8/22; 36.4%), progressive external ophthalmoplegia (8/22; 36.4%), Leigh disease (2/22; 9.1%), ataxia-neuropathy spectrum (2/22; 9.1%), and unclassified (2/22; 9.1%). The prominent clinical manifestations included developmental delay (n = 14; 63.7%), neuroregression (n = 14; 63.7%), encephalopathy (n = 11; 50%), epilepsy (n = 11; 50%), ophthalmoplegia (n = 8; 36.4%), and liver dysfunction (n = 8; 36.4%). Forty-four pathogenic variants were identified at 13 loci, and these were clustered at exonuclease (18/44; 40.9%), linker (13/44; 29.5%), polymerase (10/44; 22.7%), and N-terminal domains (3/44; 6.8%). Genotype-phenotype analysis suggested that serious outcomes including neuroregression (odds ratio [OR] 11, 95% CI 2.5, 41), epilepsy (OR 9, 95% CI 2.4, 39), encephalopathy (OR 5.7, 95% CI 1.4, 19), and hepatic dysfunction (OR 4.6, 95% CI 21.3, 15) were associated with at least 1 variant involving linker or polymerase domain. Conclusions We describe the clinical subgroups and their associations with different POLG domains. These can aid in the development of follow-up and management strategies of presymptomatic individuals.

Leigh Disease

2009 ◽  
pp. 1151-1152
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Leigh Disease

scholarly journals Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

2020 ◽  
Vol 43 (5) ◽  
pp. 1024-1036 ◽  
Author(s):  
Marisa W. Friederich ◽  
Abdallah F. Elias ◽  
Alice Kuster ◽  
Lucia Laugwitz ◽  
Austin A. Larson ◽  
...  
Keyword(s):  
Leigh Disease ◽  
Pathogenic Variants ◽  
Sulfide:Quinone Oxidoreductase

scholarly journals NDUFA2 Complex I Mutation Leads to Leigh Disease

2008 ◽  
Vol 82 (6) ◽  
pp. 1306-1315 ◽  
Author(s):  
Saskia J.G. Hoefs ◽  
Cindy E.J. Dieteren ◽  
Felix Distelmaier ◽  
Rolf J.R.J. Janssen ◽  
Andrea Epplen ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Disease

scholarly journals Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

1998 ◽  
Vol 63 (6) ◽  
pp. 1609-1621 ◽  
Author(s):  
Valeria Tiranti ◽  
Konstanze Hoertnagel ◽  
Rosalba Carrozzo ◽  
Claudia Galimberti ◽  
Monica Munaro ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency

G383 Perinatal leigh disease masquerading as hypoxic ischaemic encephalopathy

2016 ◽  
Vol 101 (Suppl 1) ◽  
pp. A222.2-A223
Author(s):  
P Surana ◽  
S Patni ◽  
B Hargitai
Keyword(s):  
Leigh Disease

Vocal cord paralysis and hypoventilation in a patient with suspected Leigh disease

1999 ◽  
Vol 20 (3) ◽  
pp. 223-225 ◽  
Author(s):  
Yu-Chen Lin ◽  
Wang-Tso Lee ◽  
Pen-Jung Wang ◽  
Yu-Zen Shen
Keyword(s):  
Vocal Cord ◽  
Vocal Cord Paralysis ◽  
Leigh Disease

Reply regarding lesional perfusion abnormalities on arterial spin labeling in Leigh disease

2016 ◽  
Vol 47 (1) ◽  
pp. 126-127
Author(s):  
Matthew T. Whitehead ◽  
Bonmyong Lee ◽  
Andrea Gropman
Keyword(s):  
Arterial Spin Labeling ◽  
Spin Labeling ◽  
Leigh Disease
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