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Autosomal recessive ataxia, slow eye movements, dementia and extrapyramidal disturbances

1990; Elsevier BV; Volume: 96; Issue: 2-3 Linguagem: Inglês

10.1016/0022-510x(90)90132-7

1878-5883

A. S. Najim Al-Din, Ashraf Al-Kurdi, Mahmoud Al-Salem, Khalid Eid Al-Nassar, A. G. H. Al‐Zuhair, Mohammed A. Rudwan, Ibrahim Ayish, Jihad A. Barghouti, Salah Khaffaji, Tafwiq Hamawi,

Neurological diseases and metabolism

Abstract An Arab family with an autosomal recessive form of spinocerebellar degeneration with slow eye movements is reported. Hitherto all the reported cases were either sporadic or of autosomal dominant inheritance. Associated are progressive intellectual impairment and extrapyramidal dysfunction as well as peripheral neuropathy and skeletal abnormalities. Muscle biopsy revealed non-specific mitochondrial abnormalities. The spectrum of eye movement abnormalities is discussed and the literature is reviewed. It is concluded that the hallmark of this syndrome (slow or even absent saccades) is one of a group of oculomotor abnormalities, all being characterized by delayed initiation and slow velocity. The syndrome seems to be related to the olivopontocerebellar degenerations, but differs in that there is in addition selective degeneration of certain tracts and nuclei in the mesencephalon and probably more rostral structures.