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Levodopa‐responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
Author(s) -
Diepold Katharina,
Schütz Barbara,
Rostasy Kevin,
Wilken Bernd,
Hougaard Pia,
Güttler Flemming,
Romstad Anne,
Birk Møller Lisbeth
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20416
Subject(s) - dystonia , parkinsonism , levodopa , homovanillic acid , compound heterozygosity , exacerbation , tyrosine hydroxylase , mutation , medicine , psychomotor retardation , hyperphenylalaninemia , endocrinology , disease , pediatrics , genetics , gene , parkinson's disease , biology , serotonin , pathology , psychiatry , dopamine , phenylalanine , amino acid , receptor , alternative medicine
Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase ( TH ) gene have been described recently. The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism. Here, we report on a patient with hyperrigidity, psychomotor developmental delay, and dystonic posturing of the hands, symptoms that appeared after a viral infection at the age of 14 months. Low homovanillic acid/5‐hydroxyindolacetic acid (HVA/5HIAA) ratio in cerebrospinal fluid suggested a TH deficiency. Molecular analysis revealed a novel (H246Y) and a known (D498G) compound heterozygote mutation in the TH gene. The patient showed a remarkable response to treatment with levodopa. The new mutation and the association of viral infections with the onset and worsening of symptoms are discussed. © 2005 Movement Disorder Society