title: Late onset cerebello-pontomesencephalic degeneration.
abstract: 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.
authors.affiliation: Department of Medicine, Faculty of Medicine, Safat, Kuwait.
authors.forename: A S
authors.initials: AS
authors.lastname: al-Din
authors.forename: A G
authors.initials: AG
authors.lastname: al-Zuhair
authors.forename: M K
authors.initials: MK
authors.lastname: al-Salem
authors.forename: K E
authors.initials: KE
authors.lastname: al-Nassar
authors.forename: M A
authors.initials: MA
authors.lastname: Rudwan
authors.forename: S
authors.initials: S
authors.lastname: Khafaja
authors.forename: T
authors.initials: T
authors.lastname: Hamawi
mesh_terms: D001927:Brain Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D002530:Cerebellopontine Angle / Q000503:physiopathology* / Q000648:ultrastructure; D003704:Dementia / Q000209:etiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D010375:Pedigree