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C Gajewski

Publications and source records attributed to C Gajewski.

4 recordsLinked to original sources

Further evidence for mitochondrial dysfunction in progressive supranuclear palsy.

Recent data from our laboratory have identified a role for mitochondrial dysfunction in the pathogenesis of progressive supranuclear palsy (PSP). To extend this finding, we measured key parameters of mitochondrial function in platelet-derived cytoplasmic hybrid (cybrid) cell lines expressing mitochondrial genes from patients with PSP. We observed significant decreases in aconitase activity, cellular ATP levels, and oxygen consumption in PSP cybrids as compared to control cybrids, further suggesting a contributory role of impaired mitochondrial energy metabolism in PSP, possibly due to genetic abnormalities of mitochondrial DNA.

Adenosine Triphosphate↗

[Neuroradiological findings in 2 cases of Wilson disease with neurological involvement].

Wilson disease is an inborn error of copper metabolism that has neurological and hepatic manifestations. We report a 13 years old girl and a 12 years old boy with Wilson disease. In both patient, brain computed tomography and magnetic resonance imaging showed marked involvement of basal ganglia and other deep gray nuclei. Considering that this is a treatable disease, it should be included in the differential diagnosis of the so called "striatal necrosis of childhood".

Adolescent↗

Efficacy of methylprednisolone administration in a case of continuous abnormal muscle activity syndrome.

We report a 20-year-old woman with continuous abnormal muscle activity syndrome in which pharmacological blockade of different sites of the motor unit demonstrates a peripheral nerve origin for the abnormal muscle activity. The case showed no markers of autoimmune disease. A rapid recovery after high dose i.v. methylprednisolone was observed supporting the hypothesis of an autoimmune pathogenesis.

Adult↗