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About 2,734 results

ALLMedicine™ Optic Atrophy Center

Research & Reviews  1,361 results

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genot...
https://doi.org/10.3390/ijerph18094796
International Journal of Environmental Research and Publi... Delvecchio M, Iacoviello M et. al.

May 5th, 2021 - Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present....

Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochond...
https://doi.org/10.1073/pnas.2019665118
Proceedings of the National Academy of Sciences of the Un... Formosa LE, Reljic B et. al.

Apr 21st, 2021 - Mitochondrial disease is a debilitating condition with a diverse genetic etiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal-recessive optic atrophy, participates directly in the assembly of mitochondrial ...

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
https://doi.org/10.1093/brain/awab052
Brain : a Journal of Neurology; Vetro A, Nielsen HN et. al.

Apr 21st, 2021 - Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A...

Different clinical entities of the same mutation: a case report of three sisters with W...
https://doi.org/10.1515/jpem-2020-0699
Journal of Pediatric Endocrinology & Metabolism : JPEM; Tarcin G, Turan H et. al.

Apr 21st, 2021 - Wolfram syndrome (WS) is a rarely seen autosomal recessive multisystem neurodegenerative disorder caused by mutations in the WFS1 gene. Three sisters with WS had diabetes mellitus (DM) at 4 years of age and optic atrophy. In addition, the first ca...

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is assoc...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059287
BMC Endocrine Disorders; Gong Y, Xiong L et. al.

Apr 21st, 2021 - Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in Wolfram syndrome 1 (WFS1) gene may cause dysregulated endoplasmic reticulum (ER)-stress a...

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Clinicaltrials.gov  1,369 results

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genot...
https://doi.org/10.3390/ijerph18094796
International Journal of Environmental Research and Publi... Delvecchio M, Iacoviello M et. al.

May 5th, 2021 - Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present....

Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochond...
https://doi.org/10.1073/pnas.2019665118
Proceedings of the National Academy of Sciences of the Un... Formosa LE, Reljic B et. al.

Apr 21st, 2021 - Mitochondrial disease is a debilitating condition with a diverse genetic etiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal-recessive optic atrophy, participates directly in the assembly of mitochondrial ...

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
https://doi.org/10.1093/brain/awab052
Brain : a Journal of Neurology; Vetro A, Nielsen HN et. al.

Apr 21st, 2021 - Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A...

Different clinical entities of the same mutation: a case report of three sisters with W...
https://doi.org/10.1515/jpem-2020-0699
Journal of Pediatric Endocrinology & Metabolism : JPEM; Tarcin G, Turan H et. al.

Apr 21st, 2021 - Wolfram syndrome (WS) is a rarely seen autosomal recessive multisystem neurodegenerative disorder caused by mutations in the WFS1 gene. Three sisters with WS had diabetes mellitus (DM) at 4 years of age and optic atrophy. In addition, the first ca...

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is assoc...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059287
BMC Endocrine Disorders; Gong Y, Xiong L et. al.

Apr 21st, 2021 - Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in Wolfram syndrome 1 (WFS1) gene may cause dysregulated endoplasmic reticulum (ER)-stress a...

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News  2 results

A 10-Year-Old Boy With Fainting Spells and Seizure Activity
https://reference.medscape.com/viewarticle/884107_6

Sep 24th, 2019 - Question 1 of 2 Which of the following conditions is not associated with congenital LQTS? Your Peers Chose: Congenital sensorineural hearing loss 0% Congenital optic atrophy 0% Syncopal attacks 0% Seizures 0% Sudden cardiac death 0% Important clue...

Case Challenge: A Veteran With Tremor and Impaired Walking
https://www.medscape.com/viewarticle/732033_4

Nov 9th, 2010 - Discussion There are 2 forms of this disease. The classic form usually begins in childhood and manifests with dysarthria, rigidity, spasticity, dystonia, hyperreflexia, Babinski signs, and deterioration of cognitive faculties. Optic atrophy and se...

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Patient Education  2 results see all →