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Pediatric Neurology Jan 1995
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Child; Glutarates; Humans; Meglutol; Optic Atrophy; Syndrome
PubMed: 7538304
DOI: 10.1016/0887-8994(95)95022-u -
Journal of Neurology Dec 2020Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy...
BACKGROUND
Behr 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.
METHODS
Here, 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.
RESULTS
Both 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.
CONCLUSIONS
The 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.
Topics: Ataxia; Cardiomyopathy, Hypertrophic; Child; Hearing Loss; Humans; Intellectual Disability; Mutation; Neurodegenerative Diseases; Optic Atrophy; Pedigree; Spasm; Spastic Paraplegia, Hereditary; Ubiquitin Thiolesterase
PubMed: 32656641
DOI: 10.1007/s00415-020-10059-3 -
Brain : a Journal of Neurology Jan 2015
Topics: Central Nervous System Diseases; Female; GTP Phosphohydrolases; Humans; Male; Optic Atrophy, Autosomal Dominant
PubMed: 25146916
DOI: 10.1093/brain/awu234 -
Journal of the Neurological Sciences Oct 2015Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and...
OBJECTIVE
Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and mental retardation. 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.
METHODS
We present the long-term observation of two Turkish sisters with Behr syndrome. We performed neurophysiological, imaging and molecular genetic studies to identify the underlying genetic cause in our patients.
RESULTS
Magnetic resonance imaging of the brain showed bilateral hypointense signals in the basal ganglia which prompted us to consider neurodegeneration with brain iron accumulation (NBIA) as a differential diagnosis. Molecular genetic studies revealed a homozygous mutation in the C19ORF12 gene which has been previously reported in patients with a subtype of NBIA, mitochondrial membrane protein-associated neurodegeneration (MPAN).
CONCLUSION
We expand the spectrum of genetic causes of Behr syndrome. Genetic testing of patients presenting with Behr syndrome should include C19ORF12 mutation screening.
Topics: Adult; Ataxia; Basal Ganglia; Female; Hearing Loss; Homozygote; Humans; Intellectual Disability; Magnetic Resonance Imaging; Mitochondrial Proteins; Mutation; Neuroimaging; Optic Atrophy; Spasm; Young Adult
PubMed: 26187298
DOI: 10.1016/j.jns.2015.07.009 -
Brain : a Journal of Neurology Jan 2015
Topics: Central Nervous System Diseases; Female; GTP Phosphohydrolases; Humans; Male; Optic Atrophy, Autosomal Dominant
PubMed: 25146915
DOI: 10.1093/brain/awu235 -
Ryoikibetsu Shokogun Shirizu 2001
Review
Topics: Child; Child, Preschool; Humans; Infant; Nervous System Diseases; Optic Atrophies, Hereditary; Syndrome
PubMed: 11528796
DOI: No ID Found -
Journal of Pediatric Orthopedics 2001Seventeen children with Behr syndrome were investigated, focusing on the musculoskeletal deformities and long-term outcome. Behr syndrome is characterized by optic...
Seventeen children with Behr syndrome were investigated, focusing on the musculoskeletal deformities and long-term outcome. Behr syndrome is characterized by optic atrophy beginning in early childhood associated with ataxia, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. In 70% of the patients, contractures developed in the lower limbs, requiring surgery mainly for the Achilles tendon, hamstrings, and adductor longus. At last follow-up at an average age of 21.7 years (range, 8-31 years), 13 of the patients are housebound walkers, 2 are nonfunctional walkers, and 2 are nonwalkers.
Topics: Achilles Tendon; Anthropometry; Ataxia; Child; Child, Preschool; Contracture; Disease Progression; Female; Follow-Up Studies; Gait; Hip; Humans; Intellectual Disability; Leg; Male; Muscle Spasticity; Optic Atrophy; Radiography; Range of Motion, Articular; Syndrome; Treatment Outcome
PubMed: 11433166
DOI: No ID Found -
Acta Neurochirurgica Jun 2005Behr syndrome was first described in 1909 as a syndrome of heredofamilial optic atrophy, visual disturbances, nystagmus, and variable pyramidal tract signs. The syndrome...
Behr syndrome was first described in 1909 as a syndrome of heredofamilial optic atrophy, visual disturbances, nystagmus, and variable pyramidal tract signs. The syndrome has been reported in both sexes. So far, tremor has not been reported to be part of Behr Syndrome. We present the case of a 51-year-old man with a rare complicated dominant inherited cerebellar ataxia with accompanying visual loss and tremor (CICALVT) resembling a Behr Syndrome variant who suffered from advanced visual deterioration since childhood and progressive spastic paraparesis for 15 years. Furthermore, the patient presented increasing tremor of both hands for 5 years. The successful treatment of the tremor using deep brain stimulation (DBS) of the ventral intermediate thalamic nucleus (VIM) is reported. Our case indicates that deep brain stimulation of the ventral intermediate nucleus is an adequate operative intervention that can help to reduce tremor even in patients with complicated movement disorders.
Topics: Deep Brain Stimulation; Humans; Male; Middle Aged; Optic Atrophies, Hereditary; Paraparesis, Spastic; Pedigree; Syndrome; Tremor; Ventral Thalamic Nuclei
PubMed: 15770348
DOI: 10.1007/s00701-005-0508-4 -
Brain : a Journal of Neurology Apr 2011
Topics: Ataxia; GTP Phosphohydrolases; Hearing Loss; Humans; Intellectual Disability; Mutation; Optic Atrophy; Spasm
PubMed: 21112924
DOI: 10.1093/brain/awq306 -
Neurology Mar 1979Two sisters had Behr syndrome; autopsy was performed on one. The autopsy revealed central atrophy of the optic nerves and total disarray of the normal laminar pattern of...
Two sisters had Behr syndrome; autopsy was performed on one. The autopsy revealed central atrophy of the optic nerves and total disarray of the normal laminar pattern of the lateral geniculate nucleus, dropout of neurons, and gliosis. There were numerous axonal spheroids in the neuropil. Similar spheroids with cell loss and gliosis were also observed in other thalamic nuclei and, rarely, in the pallida. We raise the possibility that Behr syndrome is a manifestation of a heterogeneous group of disorders, and suggest relationship of this particular disease to infantile neuroaxonal dystrophy.
Topics: Brain; Child; Female; Geniculate Bodies; Humans; Nerve Degeneration; Optic Atrophy; Syndrome; Vision Disorders
PubMed: 571977
DOI: 10.1212/wnl.29.3.323