Energy Metabolism In Pd

Although the etiology of PD is unknown, the possibility of an underlying defect in mitochondrial metabolism has been addressed in several biochemical studies (76). There is evidence of reduced complex I activity in the substantia nigra in PD, and Gu et al. have suggested that a mitochondrial DNA abnormality may underlie this complex I defect in at least a subgroup of PD patients (77). Studies in other tissues, however, have produced conflicting results, perhaps in part because biochemical...

Clinical Aspects

KD is traditionally classified into three major forms on the basis of the age of onset (1) early-infantile, (2) late-infantile or juvenile, and (3) adult form. These forms also differ in their clinical severity, and the late-onset forms are characterized by a milder and more protracted course. The emergence of molecular genetic advances in the metabolic diseases has blurred these discrete boundaries between categories and consolidated the concept of a continuum of disease expression from...

Activation And Regional Cbf Patterns In Normal Individuals And In Pd

The classical view of the basal ganglia function under normal circumstances is that of a structure in which five separate parallel circuits, under dual control by the direct and indirect pathways, subserve specific areas of the neocortex. These segregated pathways thus process cortical information from the supplementary motor area (SMA) and premotor cortex (PMC) dorsolateral prefrontal cortex (DLPFC) lateral orbitofrontal cortex anterior cingulate area and oculomotor cortex. Their role seems to...

References

Tryptophan hydroxylase activity and synaptosomal uptake of serotonin in discrete brain regions after midbrain raphe lesions correlations with serotonin levels and histochemical fluorescence. Brain Res 1972 44 165-176. 2. Samanin R, Valzelli L, Gumulka W. Inhibitory effect of midbrain raphe stimulation on cortical evoked potentials in rats. Psycho-pharmacologia 1972 24 373-379. 3. Kovacs DA, Zoll JG. Seizure inhibition by median raphe nucleus stimulation in rat....

Lysosomal Disorders

Krabbe Disorder Infants

Lysosomal disorders may present as a classic leukodystro-phy or a leukoencephalopathy associated with systemic manifestations. The disorders discussed are not exhaustive of lysosomal disease with white matter disorders and are meant to be representative. Metachromatic leukodystrophy is also known as MLD metachromatic leukoencephalopathy cerebral sclerosis, diffuse, metachromatic form sulfatide lipidosis arylsulfatase A deficiency arylsulfatase A (ARSA) deficiency and cerebro-side sulfatase...

Mitochondrial Cytopathies

Mitochondrial disorders are caused by mutations of nuclear or mitochondrial DNA encoded genes involved in oxidative phosphorylation. Mutations in these critical genes are associated with specific clinical syndromes with diverse presentations (99,100). Because mitochondria are present in many of our organs and play a key role in energy metabolism, mitochondrial encephalomyopathies often present as multisystem disorders that may manifest with neurologic, cardiac, endocrine, gastrointestinal,...

Summary

Gradient Echo Parkinson Disease

At present, conventional magnetic resonance imaging MRI shows no convincing structural changes in Parkinson's disease PD itself, but it may be useful in helping to distinguish PD from other neurodegenerative parkinsonian syndromes. Magnetic resonance spectroscopy MRS also may provide useful information in distinguishing PD from disorders such as multiple system atrophy. The general field of MRI and MRS is evolving rapidly, and a number of new developments may provide relevant information. Novel...