Costeff syndrome

Costeff syndrome

The Cerebellar Ataxias and Hereditary Spastic Paraplegias

Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011

A detailed discussion of other rare early onset hereditary ataxias is outside the scope of this chapter, but the clinical features seen in addition to ataxia include optic atrophy and spasticity (Behr syndrome, Costeff syndrome), hypogonadism (Holmes’ ataxia), deafness, extrapyramidal features and retinopathy. Some patients with autosomal dominant hereditary optic atrophy due to mutations of the OPA1 or OPA3 genes can develop ataxia and other neurological signs. The syndrome of cerebellar ataxia with myoclonus (Ramsay Hunt syndrome) is discussed below under The Ramsay Hunt syndrome (progressive myoclonic ataxia).

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy

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Journal Information

Published in Ophthalmic Genetics, 2019

Eric D. Gaier, Inderneel Sahai, Janey L. Wiggs, Brian McGeeney, Jodi Hoffman, Crandall E. Peeler

Hereditary optic neuropathies are characterized by primary optic atrophy and are caused by mutations in multiple genes. Mutations in OPA3 are associated with optic atrophy in distinct contexts (1–3). Heterozygous mutations in OPA3 cause autosomal dominant optic atrophy with associated cataract (OMIM#165300), while mutations in both OPA3 alleles cause autosomal recessive 3-methylglutaconic aciduria type III (MGA3; Costeff Syndrome; OMIM#258501), a neuro-degenerative disorder characterized by optic atrophy, extrapyramidal signs, spastic paraparesis and ataxia.

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The Cerebellar Ataxias and Hereditary Spastic Paraplegias

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy