PEHO syndrome

Common Name(s)

PEHO syndrome

PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by {1:Anttonen et al., 2017}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "PEHO syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "PEHO syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
 

Author(s): Pawel Gawlinski, Renata Posmyk, Tomasz Gambin, Danuta Sielicka, Monika Chorazy, Beata Nowakowska, Shalini N Jhangiani, Donna M Muzny, Monika Bekiesinska-Figatowska, Jerzy Bal, Eric Boerwinkle, Richard A Gibbs, James R Lupski, Wojciech Wiszniewski

Journal: Pediatr. Neurol.. 2016 Jul;60():83-7.

 

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The ...

Last Updated: 31 Dec 1969

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CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
 

Author(s): Michael S Nahorski, Masato Asai, Emma Wakeling, Alasdair Parker, Naoya Asai, Natalie Canham, Susan E Holder, Ya-Chun Chen, Joshua Dyer, Angela F Brady, Masahide Takahashi, C Geoffrey Woods

Journal: Brain. 2016 Apr;139(Pt 4):1036-44.

 

Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Atypical cases are often known as PEHO-like, ...

Last Updated: 31 Dec 1969

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Serial MRI in a child with PEHO syndrome.
 

Author(s): G Sonmez, S Aydinöz, H Mutlu, E Ozturk, H Onur Sildiroglu, S Süleymanoglu, A Tunca Keskin

Journal: J Neuroradiol. 2007 Oct;34(4):281-3.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "PEHO syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
 

Author(s): Sylvie Langlois, Maja Tarailo-Graovac, Bryan Sayson, Britt Drögemöller, Anne Swenerton, Colin Jd Ross, Wyeth W Wasserman, Clara Dm van Karnebeek

Journal: Eur. J. Hum. Genet.. 2016 06;24(6):949-53.

 

PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain ...

Last Updated: 31 Dec 1969

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