Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? | Zendy

Hjermind Lena Elisabeth | Zendy; Johannsen Lis Gitte | Zendy; Blau Nenad | Zendy; Wevers Ron Allan | Zendy; Lucking ChristophBurkhard | Zendy; Hertz Jens Michael | Zendy; Friberg Lars | Zendy; Regeur Lisbeth | Zendy; Nielsen Jørgen Erik | Zendy; Sørensen Sven Asger | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Author(s) -

Hjermind Lena Elisabeth,

Johannsen Lis Gitte,

Blau Nenad,

Wevers Ron Allan,

Lucking ChristophBurkhard,

Hertz Jens Michael,

Friberg Lars,

Regeur Lisbeth,

Nielsen Jørgen Erik,

Sørensen Sven Asger

Publication year - 2006

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.20773

Subject(s) - dystonia , medicine , parkinson's disease , gtp cyclohydrolase i , degenerative disease , neuroscience , central nervous system disease , neurology , disease , psychology , nitric oxide synthase , nitric oxide , tetrahydrobiopterin

We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene ( GCH1 ) and a decrease in [ 123 I]‐N‐ω‐fluoropropyl‐2β‐carbomethoxy‐3β‐(4‐iodophenyl) nortropane ( 123 I‐FP‐CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa‐responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early‐onset Parkinson's disease with resulting difficulties concerning treatment and prognosis. © 2005 Movement Disorder Society

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research