Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

Movement Disorders

Volumn 26, Issue 8, 2011, Pages 1558-1560

  Ormazabal, Aida ^a   Serrano, Mercedes ^a,b   Garcia Cazorla, Angels ^a,b   Campistol, Jaume ^a,b   Artuch, Rafael ^a,b   Castro de Castro, Pedro ^a   Barredo Valderrama, Estíbaliz ^a   Armstrong, Judith ^a,b   Toma, Claudio ^b,c   Cormand, Bru ^b,c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; LEVODOPA; TYROSINE 3 MONOOXYGENASE;

ADULT; CASE REPORT; CEREBROSPINAL FLUID CYTOLOGY; DOPARESPONSIVE DYSTONIA; DYSTONIA; ELECTROENCEPHALOGRAM; EXON; EYE DISEASE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; INBORN ERROR OF METABOLISM; LETTER; LOW DRUG DOSE; LUMBAR PUNCTURE; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR; SCREENING TEST; SPASTICITY; TREATMENT OUTCOME; TREATMENT RESPONSE; TYROSINE 3 MONOOXYGENASE DEFICIENCY; VIDEO ELECTROENCEPHALOGRAM; WALKING DIFFICULTY;

ANTIPARKINSON AGENTS; CARBIDOPA; DNA MUTATIONAL ANALYSIS; DRUG COMBINATIONS; FEMALE; HOMOVANILLIC ACID; HUMANS; INFANT; LEVODOPA; MOVEMENT DISORDERS; PHENOTYPE; SEQUENCE DELETION; TYROSINE 3-MONOOXYGENASE; VIDEO RECORDING;

EID: 79960346395     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23564     Document Type: Letter

References (7)

1. Willemsem MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010; 133: 1810-1822.
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5. Ribasés M, Serrano M, Fernandez-Alvarez E, et al. A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Mol Gen Metab 2007; 92: 274-277.
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7. Pons R, Serrano M, Ormazabal A, et al. Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. Mov Disord 2010; 25: 1086-1090.