Familial positional downbeat nystagmus and cerebellar ataxia: clinical and pathologic findings.
A family with progressive cerebellar ataxia is reported. The earlier signs of cerebellar dysfunction was positional downbeat nystagmus (PDBN). An autopsy of one member with PDBN, who died early in the disease of unrelated causes, showed loss of Purkinje cells primarily in the nodulus.
Kattah
Jorge C
JC
University of Illinois College of Medicine at Peoria, 530 N.E. Glen Oak Ave., Peoria, IL 61637 USA. kattahj@uic.edu
Gujrati
Meena
M
D000328:Adult; D002524:Cerebellar Ataxia / Q000503:physiopathology*; D004172:Diplopia; D005260:Female; D005403:Fixation, Ocular; D020234:Gait Ataxia / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000503:physiopathology*; D011187:Posture; D012438:Saccades / Q000502:physiology*