Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
Behr syndrome has an autosomal recessive pattern of inheritance.
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.[1][2]
Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms.[3] Autosomal dominant inheritance also being reported in a family.[4] Recently a variant of OPA1 mutation with phenotypic presentation like Behr syndrome is also described.[5] Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder.[6]
^synd/3048 at Who Named It?
^Behr C (1909). "Die komplizierte, hereditär-familiäre Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomkompleks". Klinische Monatsblätter für Augenheilkunde. 47: 138–60.
^Van Bogaert, L (1942). "Premiere observation anatomo-clinique de l'atrophie optique heredofamiliale compliquee de Behr". Bull. Acad. Roy. Med. Belg.
^Felicio, Andre C.; Godeiro-Junior, Clecio; Alberto, Lucianna G.; Pinto, Aline P. M.; Sallum, Juliana M. F.; Teive, Helio G.; Barsottini, Orlando G. P. (2008-01-01). "Familial Behr syndrome-like phenotype with autosomal dominant inheritance". Parkinsonism & Related Disorders. 14 (4): 370–372. doi:10.1016/j.parkreldis.2007.08.008. ISSN 1353-8020. PMID 17977780.
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Retrieved 2016-08-31. Poluzzi E, Raschi E, Koci A, Moretti U, Spina E, Behr ER, et al. (June 2013). "Antipsychotics and torsadogenic risk: signals emerging...
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1056/NEJMc0708182. PMC 2515862. PMID 18463391. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. (October 2013). "Executive summary: HRS/EHRA/APHRS expert...
incorporates text from this source, which is available under the CC BY 4.0 license. Behr ER, McKenna WJ (December 2002). "Hypertrophic Cardiomyopathy". Current Treatment...
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