Progressive dystonia with optic atrophy in a Jewish-Iraqi family

I. Korn-Lubetzki*, A. Blumenfeld, J. M. Gomori, D. Soffer, I. Steiner

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The combination of progressive dystonia and optic atrophy is extremely rare and its morphological, metabolic and genetic basis is unknown. In a family of 9 children (8 males) born to consanguineous Israeli-Jewish-Iraqi parents, we identified four brothers who developed the syndrome at the end of the first decade. Patients bad hemi or bilateral dystonia associated with striatal, mainly putaminal, atrophy on CT and MRI, various degrees of optic atrophy, minimal corticospinal tract involvement, normal intelligence and no peripheral nervous system or systemic abnormalities. No causative metabolic defect was identified. None of the several known mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy (LHON) or with LHON with dystonia were detected. Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was excluded. It is suggested that this entity in our patients might be due to a yet unidentified genomic, autosomal recessive mutation.

Original languageEnglish
Pages (from-to)57-63
Number of pages7
JournalJournal of the Neurological Sciences
Issue number1
StatePublished - 3 Oct 1997
Externally publishedYes


  • Dystonia
  • Hereditary
  • Mitochondrial disease
  • Optic atrophy
  • Putaminal atrophy


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