Familial fatal Parkinsonism with alveolar hypoventilation and mental depression

Annals of Neurology
A PurdyT L Perry

Abstract

The clinical, pathological, and neurochemical characteristics of a newly recognized inherited neurological disorder are reported. Lethargy and mental depression are early symptoms, followed by mild parkinsonism and progressive weight loss. Failure of automatic respiratory control develops and may result in sudden death. Advanced degeneration of the substantia nigra, cell loss and gliosis of the basal ganglia, and focal gliosis in the medulla are seen on pathological study. Degeneration of the nigrostriatal dopaminergic system is evidenced by low levels of tyrosine hydroxylase, dopamine, homovanillic acid, and L-dopa decarboxylase in postmortem brain samples. Taurine concentrations in fasting plasma and CSF are somewhat depressed; brain contents of taurine are within normal limits.

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Related Concepts

Homovanillic Acid
Abnormal Degeneration
Taurine, Monopotassium Salt
Depressed - Symptom
Entire Medulla Oblongata
Hypoventilation
Autopsy
Lethargy
Brain
Depressive Disorder

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