R. Aquaron et al., PARKINSONISM WITH ALKAPTONURIA - COINCIDENTALLY ASSOCIATION OR STRIATONIGRAL OCHRONOSIS, Revue neurologique, 151(1), 1995, pp. 63-66
We report the case of a 64 year old woman treated for 10 years by DOPA
for Parkinson's disease and displaying brown wine. Homogentisic acid
was found in urine establishing the diagnosis of alkaptomuria. Clinica
l and radiological studies demonstrated ochronosis and ochronotic arth
ropathy, blue pigmentation of ear cartilage and calcification of the i
ntervertebral lumbar disc giving the classical <<inverted spine>>. Int
errelation between this metabolic abnormality and Parkinson's disease
is discussed. The recent cloning and mapping of the hu,nan gene for al
kaptonuria to chromosome 3q should bring some clarification among rela
tionships between these two diseases.