Late onset cerebello-pontomesencephalic degeneration

Two siblings are presented with late onset, rapidly progressive truncal ataxia, paralysis of down-gaze and loss of up-gaze saccades in association with other oculomotor dysfunctions as well as dementia. Electron microscopic muscle studies revealed abnormal distribution and form of the mitochondria,...

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Veröffentlicht in:	Journal of the neurological sciences 1989-11, Vol.93 (2), p.323-331
Hauptverfasser:	Al-Din, Amir S.Najim, Al-Zuhair, Ali G.H., Al-Salem, Mahmoud K., Al-Nassar, Khalid Eid, Rudwan, Mohammed A., Khafaja, Salah, Hamawi, Tawfiq
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain Diseases - genetics Brain Diseases - pathology Brain Diseases - physiopathology Cerebellar degeneration Cerebellopontine Angle - physiopathology Cerebellopontine Angle - ultrastructure Dementia Dementia - etiology Down-gaze paralysis Humans Late onset Male Middle Aged Mitochondria, Muscle - ultrastructure Pedigree Vertical gaze paralysis
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Zusammenfassung:	Two siblings are presented with late onset, rapidly progressive truncal ataxia, paralysis of down-gaze and loss of up-gaze saccades in association with other oculomotor dysfunctions as well as dementia. Electron microscopic muscle studies revealed abnormal distribution and form of the mitochondria, probably being the ultrastructural basis of the pathologic changes. A neurological syndrome as that described here has not been reported before.
ISSN:	0022-510X
DOI:	10.1016/0022-510X(89)90202-5