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. Reported cases have been found to carry mutations in the OPA1 (= BERHS, MGM1, MTDPS14, NPG, NTG, largeG), OPA3 (= MGA3), C12ORF65 (= SPG55; COXPD7), or C19ORF12 (= NBIA3, NBIA4, SPG43) genes (PMID:26187298).
'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).
Type III 3-methylglutaconic ... 'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Type III 3-methylglutaconic aciduria (258501) shows a very similar clinical phenotype, with the addition of increased urinary 3-methyglutaconic acid. It is most common in individuals of Iraqi Jewish origin. However, Lerman-Sagie (1995) noted that this abnormal urinary pattern may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may have actually been 3-methyglutaconic aciduria type III.
Behr (1909) described a syndrome of optic atrophy beginning in early childhood, associated with ataxia, spasticity, and mental retardation. Posterior column sensory loss was also reported. After a period of progression, the symptoms remained static. Involvement of multiple ... Behr (1909) described a syndrome of optic atrophy beginning in early childhood, associated with ataxia, spasticity, and mental retardation. Posterior column sensory loss was also reported. After a period of progression, the symptoms remained static. Involvement of multiple brothers and sisters with normal parents and parental consanguinity suggested autosomal recessive inheritance. Van Bogaert and Andre-Van Leeuwen (1942) reported necropsy findings. In their pedigree, mild manifestations were evident in heterozygotes. Horoupian et al. (1979) reported 2 sisters with Behr syndrome. Postmortem examination of 1 patient showed central atrophy of the optic nerves and total disarray of the normal laminar pattern of the lateral geniculate nucleus, neuronal loss, and gliosis. Numerous axonal spheroids were also present. The authors suggested that Behr syndrome is a manifestation of a heterogeneous group of disorders. Thomas et al. (1984) described a consanguineous Oriental family in which 2 males and 3 females in 2 generations were affected with Behr syndrome. Salient clinical features included mental retardation and dementia, optic atrophy, cerebellar ataxia, pyramidal signs, and peripheral neuropathy. Nerve biopsy from the index case showed a chronic neuropathy with axonal degeneration and regeneration, and muscle biopsy showed multiple inclusions composed of spiral cylindrical structures. The parents of the 3 affected persons in the first of these generations were first cousins, and those affected in the second generation were offspring of a brother of the elder affected persons who was married to a first cousin once removed. Most of the patients were adults, the proband being 46 years old. Copeliovitch et al. (2001) reported the management of musculoskeletal abnormalities in 17 patients with Behr syndrome. All were born in Israel to Iraqi Jewish immigrants. The main clinical features were optic atrophy diagnosed during the first decade of life, nystagmus (apparent in the first year of life), and spastic ataxic gait. Seventy percent of patients had severe lower limb muscle contractures leading to frequent falls and requiring surgery. Achilles tendon lengthening was effective in 11 patients who received it. Hamstring lengthening and surgery to improve hip adduction were not as effective in improving the pattern of gait. Copeliovitch et al. (2001) found that the ataxia and spasticity were progressive in their patients and became more prominent in the second decade of life. At follow-up at an average age of 21.7 years, 13 of the patients were housebound walkers, 2 were nonfunctional walkers, 2 were nonwalkers, and all patients resided in special homes for the handicapped. Pizzatto and Pascual-Castroviejo (2001) reported 7 cases of Behr syndrome, 6 of whom were 3 pairs of sibs. Biochemical investigations were reportedly normal. MRI of 5 patients showed marked cerebellar atrophy in 3 and moderate cerebellar atrophy in 2.