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

Lena Elisabeth Hjermind, Lis Gitte Johannsen, Nenad Blau, Ron Allan Wevers, Christoph-Burkhard Lucking, Jens Michael Hertz, Lars Friberg, Lisbeth Regeur, Jørgen Erik Nielsen, Sven Asger Sørensen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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 [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-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.
OriginalsprogEngelsk
TidsskriftMovement Disorders
Vol/bind21
Udgave nummer5
Sider (fra-til)679-82
Antal sider4
ISSN0885-3185
DOI
StatusUdgivet - 2006

Fingeraftryk

Parkinson Disease
Nortropanes
GTP Cyclohydrolase
Movement Disorders
Differential Diagnosis
Mutation
Hyperphenylalaninemia, BH4-Deficient, B

Citer dette

Hjermind, L. E., Johannsen, L. G., Blau, N., Wevers, R. A., Lucking, C-B., Hertz, J. M., ... Sørensen, S. A. (2006). Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? Movement Disorders, 21(5), 679-82. https://doi.org/10.1002/mds.20773
Hjermind, Lena Elisabeth ; Johannsen, Lis Gitte ; Blau, Nenad ; Wevers, Ron Allan ; Lucking, Christoph-Burkhard ; Hertz, Jens Michael ; Friberg, Lars ; Regeur, Lisbeth ; Nielsen, Jørgen Erik ; Sørensen, Sven Asger. / Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?. I: Movement Disorders. 2006 ; Bind 21, Nr. 5. s. 679-82.
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title = "Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?",
abstract = "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 [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-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.",
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author = "Hjermind, {Lena Elisabeth} and Johannsen, {Lis Gitte} and Nenad Blau and Wevers, {Ron Allan} and Christoph-Burkhard Lucking and Hertz, {Jens Michael} and Lars Friberg and Lisbeth Regeur and Nielsen, {J{\o}rgen Erik} and S{\o}rensen, {Sven Asger}",
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year = "2006",
doi = "10.1002/mds.20773",
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journal = "Movement Disorders",
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Hjermind, LE, Johannsen, LG, Blau, N, Wevers, RA, Lucking, C-B, Hertz, JM, Friberg, L, Regeur, L, Nielsen, JE & Sørensen, SA 2006, 'Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?', Movement Disorders, bind 21, nr. 5, s. 679-82. https://doi.org/10.1002/mds.20773

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? / Hjermind, Lena Elisabeth; Johannsen, Lis Gitte; Blau, Nenad; Wevers, Ron Allan; Lucking, Christoph-Burkhard; Hertz, Jens Michael; Friberg, Lars; Regeur, Lisbeth; Nielsen, Jørgen Erik; Sørensen, Sven Asger.

I: Movement Disorders, Bind 21, Nr. 5, 2006, s. 679-82.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

AU - Hjermind, Lena Elisabeth

AU - Johannsen, Lis Gitte

AU - Blau, Nenad

AU - Wevers, Ron Allan

AU - Lucking, Christoph-Burkhard

AU - Hertz, Jens Michael

AU - Friberg, Lars

AU - Regeur, Lisbeth

AU - Nielsen, Jørgen Erik

AU - Sørensen, Sven Asger

N1 - Copyright (c) 2005 Movement Disorder Society.

PY - 2006

Y1 - 2006

N2 - 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 [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-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.

AB - 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 [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-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.

KW - Adult

KW - Alzheimer Disease

KW - Antiparkinson Agents

KW - DNA Mutational Analysis

KW - Dystonia

KW - Family Health

KW - GTP Cyclohydrolase

KW - Humans

KW - Iodine Isotopes

KW - Levodopa

KW - Male

KW - Mutation

KW - Tomography, Emission-Computed, Single-Photon

KW - Tropanes

U2 - 10.1002/mds.20773

DO - 10.1002/mds.20773

M3 - Journal article

VL - 21

SP - 679

EP - 682

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 5

ER -