Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

Department of Neurology, University Hospital Zürich, Zürich, Switzerland.
Neurology (Impact Factor: 8.3). 11/2004; 63(8):1524-6. DOI: 10.1212/01.WNL.0000142083.47927.0A
Source: PubMed

ABSTRACT The authors report the long-term course of two siblings with L-dopa responsive dystonia (DRD) associated with a compound heterozygous mutation in the tyrosine hydroxylase (TH) gene. Both siblings manifested with lower-limb onset generalized DRD and had a sustained response to low-dose L-dopa therapy for over 35 years. Although the l-dopa therapy was delayed up to 20 years after disease onset, there were no cognitive or neurologic sequelae of the long-term catecholamine deficit.

  • [Show abstract] [Hide abstract]
    ABSTRACT: Background The identification of inborn errors of metabolism (IEM) in adults presenting with a wide range of neurological symptoms is a relatively new field in medicine. We sought to identify which treatable IEM have been diagnosed for the first time in adults and generate a protocol for metabolic screening targeting those treatable disorders. Methods Medline/Pubmed searches of English language literature limited to the adult age group were performed. Diseases identified through this search were then compared to previously published lists of treatable IEM in both adults and children. Results 85% of the treatable conditions known to cause global developmental delay or intellectual disability in children had reports where the diagnosis of that IEM was made in one or more adult patients with neurological symptoms. Screening tests in blood, urine, CSF and MRI can detect most of these treatable conditions but the diagnostic accuracy of these screening tests in adults is not clear. Conclusion Treatable IEM need to be considered in the differential diagnosis of neurological symptoms in patients of any age.
    Molecular Genetics and Metabolism 12/2013; 110(4):431–438. DOI:10.1016/j.ymgme.2013.10.002 · 2.83 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Synaptic proteins can be studied in the CSF of patients with neurological disorders•Synaptic proteins studies help understanding mechanisms of neurotransmitter defects•D2 receptors are upregulated in the CSF of TH patients compared to controls.
    Molecular Genetics and Metabolism 10/2014; DOI:10.1016/j.ymgme.2014.10.014 · 2.83 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Dopa-responsive dystonia (DRD) has a classic presentation of childhood or adolescent-onset dystonia, mild parkinsonism, marked diurnal fluctuations, improvement with sleep or rest, and a dramatic and sustained response to low doses of L-dopa without motor fluctuations or dyskinesias. However, there have been many papers on patients with a wide range of features, which report them as DRD mainly because they had dystonic syndromes with L-dopa responsiveness. Many mutations in the dopaminergic system have been found as molecular genetic defects. Therefore, the clinical and genetic spectra of DRD are unclear, which lead to difficulties in diagnostic work-ups and planning treatments. We propose the concept of DRD and DRD-plus to clarify the confusion in this area and to help understand the pathophysiology and clinical features, which will help in guiding diagnostic investigations and planning treatments. We critically reviewed the literature on atypical cases and discussed the limitations of the gene study.
    Current Neurology and Neuroscience Reports 07/2014; 14(7):461. DOI:10.1007/s11910-014-0461-9 · 3.78 Impact Factor


Available from