2015
DOI: 10.1055/s-0035-1558867
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The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism

Abstract: This article analyzes the pattern of movement disorders in children with primary defects of biogenic amine metabolism emerging during the first 3?year of life. A PubMed search was performed using the keywords ?monoamine neurotransmitter disorders,? ?congenital defects of biogenic amine metabolism,? ?early onset movement disorders,? ?autosomal dominant guanosine-triphosphate-cyclohydrolase deficiency,? ?autosomal recessive guanosine-tryphosphate-cyclohydrolase deficiency,? ?6-pyruvoyl-tethrahydropterin synthase… Show more

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Cited by 2 publications
(4 citation statements)
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“…The spectrum of alternative presentations includes spastic diplegia mimicking a cerebral palsy, or, in later onset forms, spastic paraplegia; early-onset rigid-hypokinetic syndrome; focal dystonia; poor coordination; bradykinesia; myoclonus dystonia; and paroxysmal painful dystonia associated with restless legs syndrome. 82 In children, AD-GTP-CH deficiency is dramatically and persistently responsive to levodopa, which is well tolerated without the motor complications observed in advanced Parkinson's disease (Video S4 and S5).…”
Section: Defects Of Biogenic Amine Metabolismmentioning
confidence: 96%
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“…The spectrum of alternative presentations includes spastic diplegia mimicking a cerebral palsy, or, in later onset forms, spastic paraplegia; early-onset rigid-hypokinetic syndrome; focal dystonia; poor coordination; bradykinesia; myoclonus dystonia; and paroxysmal painful dystonia associated with restless legs syndrome. 82 In children, AD-GTP-CH deficiency is dramatically and persistently responsive to levodopa, which is well tolerated without the motor complications observed in advanced Parkinson's disease (Video S4 and S5).…”
Section: Defects Of Biogenic Amine Metabolismmentioning
confidence: 96%
“…Milder and late-onset presentations have been described for autosomal recessive GTP-CH, TH, and sepiapterin reductase defects, with dopa-responsive dystonia and parkinsonism-dystonia syndrome. 82,85 Mild forms of 6-pyruvoyl-tetrahydropterin synthase deficiency may remain asymptomatic or develop chorea or parkinsonism later in the disease course. 86 Biogenic amine synthesis defects are potentially treatable disorders even though the outcome is less favorable than in AD-GTP-CH deficiency.…”
Section: Defects Of Biogenic Amine Metabolismmentioning
confidence: 99%
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