Literature DB >> 7676134

[Parkinson disease and alkaptonuria: fortuitous association or striatonigral ochronosis?].

R Aquaron1, G Fayet, C Barthet, S Désiré, F Viallet.   

Abstract

We report the case of a 64 year old woman treated for 10 years by DOPA for Parkinson's disease and displaying brown urine. Homogentisic acid was found in urine, establishing the diagnosis of alkaptonuria. Clinical and radiological studies demonstrated ochronosis and ochronotic arthropathy, blue pigmentation of ear cartilage and calcification of the intervertebral lumbar disc giving the classical "inverted spine". Interrelation between this metabolic abnormality and Parkinson's disease is discussed. The recent cloning and mapping of the human gene for alkaptonuria to chromosome 3q should bring some clarification among relationships between these two diseases.

Entities:  

Mesh:

Substances:

Year:  1995        PMID: 7676134

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  4 in total

1.  Progress in Alkaptonuria--are we near to an effective therapy?

Authors:  L R Ranganath; O G Timmis; J A Gallagher
Journal:  J Inherit Metab Dis       Date:  2015-09       Impact factor: 4.982

Review 2.  Amyloidosis in alkaptonuria.

Authors:  Lia Millucci; Daniela Braconi; Giulia Bernardini; Pietro Lupetti; Josef Rovensky; Lakshminaryan Ranganath; Annalisa Santucci
Journal:  J Inherit Metab Dis       Date:  2015-04-14       Impact factor: 4.982

3.  Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.

Authors:  Giulia Bernardini; Marcella Laschi; Michela Geminiani; Daniela Braconi; Elisa Vannuccini; Pietro Lupetti; Fabrizio Manetti; Lia Millucci; Annalisa Santucci
Journal:  J Inherit Metab Dis       Date:  2015-03-12       Impact factor: 4.982

4.  Alkaptonuria is a novel human secondary amyloidogenic disease.

Authors:  Lia Millucci; Adriano Spreafico; Laura Tinti; Daniela Braconi; Lorenzo Ghezzi; Eugenio Paccagnini; Giulia Bernardini; Loredana Amato; Marcella Laschi; Enrico Selvi; Mauro Galeazzi; Alessandro Mannoni; Maurizio Benucci; Pietro Lupetti; Federico Chellini; Maurizio Orlandini; Annalisa Santucci
Journal:  Biochim Biophys Acta       Date:  2012-07-28
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.