Behr Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Abortive cerebellar ataxia, BEHR SYNDROME, BEHRS

+ [17]

Introduction

An autosomal recessive condition caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial. It is characterized by optic atrophy and neurological features, which may include ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties.

100 Clinical Results associated with Behr Syndrome

100 Translational Medicine associated with Behr Syndrome

0 Patents (Medical) associated with Behr Syndrome

Literatures (Medical) associated with Behr Syndrome

01 Mar 2024·eNeurologicalSci

Behr's syndrome mimicking a case of hereditary spastic paraparesis

Article

Author: Verma, Rajesh ; Chakraborty, Rajarshi

01 Jan 2024·Epilepsy & Behavior Reports

Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene

Author: Ganganna, Sreenath Thati ; Calhoun, Amy R U L ; Jagadish, Spoorthi

Behr syndrome is associated with compound heterozygous dysfunction in OPA1 gene and typically presents with a constellation of visual impairment due to early onset optic atrophy, cerebellar ataxia, peripheral neuropathy, deafness, and gastrointestinal motility problems. Our patient with biallelic variants in OPA1 gene had delayed motor milestones, cerebellar ataxia, and optic atrophy in infancy. At the age of 7 years, he presented with recurrent episodes of super-refractory status epilepticus and metabolic stroke due to underlying mitochondrial dysfunction associated with OPA1 gene dysfunction. Besides the two rare prior case reports of focal and myoclonic seizures in patients with Behr syndrome, epilepsy in general is not well described in the typical phenotypic spectrum and to the best of our knowledge. Dramatic clinical presentation with recurrent super-refractory status epilepticus and metabolic stroke has not been reported previously. There is only one prior report of metabolic stroke in a patient with Behr syndrome due to OPA1 gene dysfunction.

01 Dec 2020·Journal of NeurologyQ2 · MEDICINE

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Q2 · MEDICINE

Article

Author: Matalonga, Leslie ; Lochmüller, Angela ; McMacken, Grace ; Beltran, Sergi ; Chinnery, Patrick F ; Lochmüller, Hanns ; Pyle, Angela ; Laurie, Steve ; Bansagi, Boglarka ; Horvath, Rita

AbstractBackgroundBehr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene panel testing or whole-exome/genome sequencing.MethodsHere, we report the clinical presentation of two siblings with a novel genetic form of Behr syndrome. We performed whole-exome sequencing in the two patients and their mother.ResultsBoth patients had a childhood-onset, slowly progressive disease resembling Behr syndrome, starting with visual impairment, followed by progressive spasticity, weakness, and atrophy of the lower legs and ataxia. They also developed scoliosis, leading to respiratory problems. In their late 30’s, both siblings developed a hypertrophic cardiomyopathy and died of sudden cardiac death at age 43 and 40, respectively. Whole-exome sequencing identified the novel homozygous c.627_629del; p.(Gly210del) deletion in UCHL1.ConclusionsThe presentation of our patients raises the possibility that hypertrophic cardiomyopathy may be an additional feature of the clinical syndrome associated with UCHL1 mutations, and highlights the importance of cardiac follow-up and treatment in neurodegenerative disease associated with UCHL1 mutations.

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Behr Syndrome

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