Behr Syndrome

Common Name(s)

Behr Syndrome

Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person.  Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Autosomal dominant inheritance has been reported in one family. Treatment depends on the specific signs and symptoms seen in the patient.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Behr 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 "Behr Syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

'Behr syndrome' with OPA1 compound heterozygote mutations.
 

Author(s): Valerio Carelli, Mario Sabatelli, Rosalba Carrozzo, Teresa Rizza, Simone Schimpf, Bernd Wissinger, Claudia Zanna, Michela Rugolo, Chiara La Morgia, Leonardo Caporali, Michele Carbonelli, Piero Barboni, Caterina Tonon, Raffaele Lodi, Enrico Bertini

Journal: Brain. 2015 Jan;138(Pt 1):e321.

 

Last Updated: 7 Jan 2015

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Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.
 

Author(s): Patrick Yu-Wai-Man, Patrick F Chinnery

Journal: Brain. 2015 Jan;138(Pt 1):e322.

 

Last Updated: 7 Jan 2015

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Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
 

Author(s): Patrick Yu-Wai-Man, Patrick F Chinnery

Journal: Brain. 2014 Oct;137(Pt 10):e302.

 

Last Updated: 14 Sep 2014

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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 "Behr Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.