ISSN:
1432-0533
Keywords:
Mitochondrial encephalomyopathy
;
Complex I deficiency
;
Clinicopathological findings
;
Olivoponto-cerebellar degeneration
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary We describe a sporadic case of adult-onset, complex I deficiency mitochondrial encephalomyopathy (MEM), the clinical and pathological features of which failed to fit any of the known subgroups of MEM, such as Kearns-Sayre syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes or myoclonus epilepsy with ragged-red fibers. Clinically, this patient had only progressive cerebellar ataxia, generalized muscle weakness and hearing loss. The principal finding at autopsy was degeneration of the olivoponto-cerebellar system. This case suggests that mitochondrial disease could underlie some cases of olivoponto-cerebellar atrophy.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00294438
Permalink