Behr syndrome I.

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The Behr syndrome is a rare genetic disease associated with optic atrophy associated and variable neurological disorders. To distinguish from Behr syndrome II , the disease is also known as Behr syndrome called.

The name is derived from Carl Julius Peter Behr , who first described the syndrome in 1909. About 40 cases have been published since the first description.

root cause

It is mostly an autosomal recessive inheritance. Autosomal dominant and x-linked inheritance patterns have also been described. The underlying gene mutations have not yet been detected. It is believed that the disease is genetically heterogeneous.

Clinical features

The disease manifests itself from the 3rd year of life. By a progressive optic neuropathy that is, by atrophy (atrophy) of the optic nerve (optic nerve), it comes to increasing visual impairment with restriction of the visual acuity (visual acuity) and a narrowing of the visual field by scotoma and changes in the macula (the yellow spot). The changes rarely lead to blindness . In addition, a can of sensory nystagmus occur.

In addition to the optic atrophy typical of the syndrome, neurological disorders occur that are variable within and between families. These include progressive spastic paraplegia due to involvement of the pyramidal tract , extrapyramidal motor disorders due to involvement of the extra extrapyramidal system and sensory disorders due to involvement of the posterior tracts . In addition, myoclonus epilepsy , speech disorder (dysarthria), ataxia , urinary incontinence and giftedness occur. Neurological disorders are only in the foreground in the second decade of life. Among other things, they lead to a severe gait disorder up to the inability to walk.

Imaging has shown cerebellar atrophy and symmetrical white matter changes in some patients.


The Behr syndrome has symptoms similar to the so-called Costeff syndrome . In contrast to the Costeff syndrome, however, no metabolic abnormalities are detectable in Behr syndrome.

Individual evidence

  1. ^ Peter Reuter: Springer Lexicon Medicine. Springer, Berlin et al. 2004, ISBN 3-540-20412-1 , p. 250.
  2. C. Behr: The complicated, hereditary-familial optic atrophy of childhood: a so far not described complex of symptoms. In: Clinical monthly sheets for ophthalmology. Vol. 47 = NF Vol. 4, 1909, ISSN  0023-2165 , pp. 138-160.
  3. Behr's syndrome I at, last accessed on January 4, 2012
  4. ^ A b c Regine Witkowski, Otto Prokop , Eva Ullrich, Gundula Thiel: Lexicon of Syndromes and Malformations. Causes, genetics, risks. 7th, completely revised and updated edition. Springer, Berlin et al. 2003, ISBN 3-540-44305-3 .
  5. a b c d Behr syndrome I. In: Orphanet (database for rare diseases). , last accessed on January 4, 2012.

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