Results 21 to 30 of about 89 (80)
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko +41 more
wiley +1 more source
Oculogyric crisis as an initial manifestation of Wilson’s disease
Neurology, 1999 Wilson’s disease is an autosomal-recessive inherited disease caused by a defect on chromosome 13 encoding copper transporting P-type adenosine triphosphatase. Although patients with Wilson’s disease have a fundamental defect in the hepatobiliary system, they have various combinations of neurologic, psychiatric, and musculoskeletal manifestations.
M S, Lee, Y D, Kim, C H, Lyoo
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Journal of Paediatrics and Child Health, Volume 62, Issue 7, Page 1273-1277, July 2026.
Ozge Serce Pehlevan +3 more
wiley +1 more source
Movement Disorders, Volume 40, Issue 8, Page 1669-1679, August 2025.Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons +16 more
wiley +1 more source
An Unusual Motor OFF in Parkinson's Disease
Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 1085-1087, April 2026.
Shreyashi Jha, Mandar S. Jog
wiley +1 more source
Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency
Movement Disorders Clinical Practice, Volume 12, Issue 12, Page 2353-2356, December 2025.
Claudio M. de Gusmao +4 more
wiley +1 more source
Tardive oculogyric crisis associated with amisulpride monotherapy
Journal of Postgraduate Medicine, 2010 Oculogyric crisis (OGC) is a dystonic and distressing side- effect which occurs immediately after the administration of high-potency antipsychotic drugs and is usually reported as a subtype of dystonia. We report a case of a young woman with schizophrenia who presented with tardive OGC related to amisulpride.
Mendhekar, D.N., Lohia, D., Kataria, P.
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Blepharospasm in GNAO1 Syndrome May Benefit From Botulinum Toxins
Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 2007-2009, November 2025.
Eleonora Minacapilli +4 more
wiley +1 more source
Involuntary Eye Movements as a Clue to Diagnosis
Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1662-1663, October 2025.
Victor Rebelo Procaci +4 more
wiley +1 more source
Aripiprazole-induced oculogyric crisis (acute dystonia)
Journal of Pharmacology and Pharmacotherapeutics, 2012 Aripiprazole is the third generation atypical antipsychotic and a dopamine serotonin system stabilizer (DSS) effective against positive and negative symptoms of schizophrenia. It has a low propensity for extrapyramidal side effects, causes minimal weight gain or sedation, produces no elevation in serum prolactin levels, and does not cause prolongation ...
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