PEHO syndrome

Also Known As:

Infantile cerebellooptic atrophy; PEHO-Like Syndrome; Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy

Networked: 13 relevant articles (2 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infantile Spasms (West Syndrome)
2.	Brain Diseases (Brain Disorder)
3.	Atrophy
4.	Subacute Sclerosing Panencephalitis (SSPE)
5.	Asphyxia (Suffocation)

Experts

1.	Anttonen, Anna-Kaisa: 2 articles (03/2020 - 01/2017)
2.	Laari, Anni: 2 articles (03/2020 - 01/2017)
3.	Lehesjoki, Anna-Elina: 2 articles (03/2020 - 01/2017)
4.	Muona, Mikko: 2 articles (03/2020 - 01/2017)
5.	Valanne, Leena: 2 articles (03/2020 - 01/2017)
6.	Riikonen, R: 2 articles (11/2001 - 06/2000)
7.	Cohen, Lauren N: 1 article (01/2022)
8.	Dreggors-Walker, R Elizabeth: 1 article (01/2022)
9.	Ghalei, Homa: 1 article (01/2022)
10.	Khoshnevis, Sohail: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to PEHO syndrome:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "These results suggest that loss-of-function of a nuclear regulator protein underlies PEHO syndrome and imply that establishment of its spatiotemporal interaction targets will be the basis for developing therapeutic approaches and for improved understanding of cerebellar development." 03/01/2019 - "Our study further confirmed that the molecular basis of PEHO syndrome at least in a subset of patients is a dominant KIF1A variant affecting the motor domain of the protein. " 01/01/2016 - "Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein. " 01/01/2022 - "We show that missense mutations modeling those found in PEHO syndrome patients cause a decrease in steady-state Hit1 protein levels, a significant reduction of box C/D snoRNA levels, and subsequent defects in rRNA processing and altered cellular translation. "
2.	Small Nucleolar RNA (snoRNA)IBA 01/01/2022 - "We show that missense mutations modeling those found in PEHO syndrome patients cause a decrease in steady-state Hit1 protein levels, a significant reduction of box C/D snoRNA levels, and subsequent defects in rRNA processing and altered cellular translation. "
3.	Insulin-Like Growth Factor I (IGF-1)IBA 11/01/2001 - "In this study, we set out to test the hypothesis that NO production is activated in the PEHO syndrome and that NO production may be correlated with the reduced production of IGF-1 in the brain. " 11/01/1999 - "Patients with PEHO syndrome and those with other progressive, degenerative cerebellar diseases had lower levels of CSF IGF-1 than the controls with other neurologic diseases. " 11/01/2001 - "In patients with the PEHO syndrome, as compared with controls, the levels of IGF-1 were reduced and the levels of nitrite/nitrate were markedly elevated. " 11/01/1999 - "We used a sensitive enzyme immunoassay kit for measuring cerebrospinal fluid (CSF) IGF-1 and insulin-like growth-binding protein (IGFBP)-3 in four groups of patients: PEHO syndrome patients (eight), PEHO-like patients (seven), age-matched controls (31), and patients with other types of cerebellar atrophy (11). "
4.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2019 - "In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome. " 02/01/2019 - "A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family."
5.	CeroidIBA 09/26/2017 - "What clinical studies in neonatal asphyxia, infantile spasms, progressive encephalopathy-hypsarrhythmia-optical atrophy (PEHO) syndrome, infantile ceroid lipofuscinosis (INCL), autistic spectrum disorders (ASD) and subacute sclerosing encephalopathy (SSPE) have been carried out? "
6.	NitritesIBA 06/01/2000 - "Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)." 11/01/2001 - "In patients with the PEHO syndrome, as compared with controls, the levels of IGF-1 were reduced and the levels of nitrite/nitrate were markedly elevated. " 06/01/2000 - "Nitric oxide metabolites, nitrates, and nitrites (NNx), were measured in the cerebrospinal fluid (CSF) of children with PEHO syndrome or PEHO-like syndrome, and in controls with other neurologic diseases. "
7.	NitratesIBA 06/01/2000 - "Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)." 11/01/2001 - "In patients with the PEHO syndrome, as compared with controls, the levels of IGF-1 were reduced and the levels of nitrite/nitrate were markedly elevated. " 06/01/2000 - "Nitric oxide metabolites, nitrates, and nitrites (NNx), were measured in the cerebrospinal fluid (CSF) of children with PEHO syndrome or PEHO-like syndrome, and in controls with other neurologic diseases. "
8.	Phosphoglycerate Dehydrogenase (Dehydrogenase, Phosphoglycerate)IBA 05/01/2008 - "The group of these findings is mimicking to clinical manifestations of 3-phosphoglycerate dehydrogenase deficiency, and has some overlap with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) like syndrome, however it is not compatible with these two conditions. "
9.	Mutant Proteins (Protein, Mutant)IBA 01/01/2017 - "Transfection of cell lines with ZNHIT3 expression vectors showed that the PEHO syndrome mutant protein is unstable. "
10.	Lactic Acid (Lactate)FDA LinkGeneric 03/01/2020 - "Features distinguishing the proband's phenotype from PEHO syndrome were later appearance of hypotonia and elevated lactate levels in blood and cerebrospinal fluid. "