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Familial fatal parkinsonism with alveolar hypoventilation and mental depression
Author(s) -
Purdy Allan,
Hahn Angelika,
Barnett Henry J. M.,
Bratty Paul,
Ahmad Dildar,
Lloyd Kenneth G.,
McGeer Edith G.,
Perry Thomas L.
Publication year - 1979
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410060611
Subject(s) - gliosis , homovanillic acid , parkinsonism , medicine , endocrinology , neurochemical , substantia nigra , lethargy , dopamine , pathology , psychology , dopaminergic , serotonin , disease , receptor
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.