improve dystonia,
13
myoclonus,
14
paroxysmal choreoatheto-
sis,
15
and levodopa-induced dyskinesia.
16
Our case report sug-
gests that LEV could play a role in the treatment of chorea from
CP and might be evaluated for chorea from other causes (e.g.,
Huntington’s disease). An advantage of LEV over agents such
as haloperidol is that it is not known to cause tardive dyskine-
sia. Further testing of LEV in a case series or a controlled trial
of choreiform patients is warranted to further assess its safety
and efficacy.
Legend to the Video
A 35-year-old woman with cerebral palsy developed chorea
when she experienced a fever from a nonstreptococcal infec-
tion. A: Video before treatment with levetiracetam (Keppra,
LEV) shows the patient with severe chorea. B: The patient 48
hours after starting LEV 1,000 mg twice a day. Substantial
improvement in chorea is demonstrated.
References
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8. Guy W. ECDEU assessment manual for psychopharmacology.
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Education and Welfare; 1976.
9. Anand KS, Thakur LC. Cryptogenic chorea. J Trop Med Hyg
1991;94:393–394.
10. Cereghino JJ, Biton V, Abou-Khalil B, et al. Levetiracetam for
partial seizures: results of a double-blind, randomized clinical trial.
Neurology 2000;55:236 –242.
11. Shorvon SD, Lowenthal A, Janz D, et al. Multi-center double-
blind, randomized, placebo-controlled trial of levetiracetam as
add-on therapy in patients with refractory partial seizures. Euro-
pean Levetiracetam Study Group. Epilepsia 2000;41:1179 –1186.
12. Ikeda A, Shibasaki H, Tashiro K, et al. Clinical trial of piracetam
in patients with myoclonus: nationwide multi-institution study in
Japan. Mov Disord 1996;11:691–700.
13. Deleu D. Levetiracetam in the treatment of idiopathic hemifacial
spasm. Neurology 2004;8:2134 –2135.
14. Frucht SJ, Louis ED, Chuang C, Fahn S. A pilot tolerability and
efficacy study of levetiracetam in patients with chronic myoclonus.
Neurology 2001;57:1112–1114.
15. Piperidou C, Maltezos E, Kafalis G, et al. Piracetam for choreo-
athetosis. Lancet 1988;2:906.
16. Zesiewicz TA, Sullivan KL, Maldonado JA, Tatum WO, Hauser
RA. Levetiracetam (Keppra) in the treatment of levodopa-induced
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62(Suppl. 5):A510.
Levodopa-Responsive Infantile Parkinsonism
Due to a Novel Mutation in the Tyrosine
Hydroxylase Gene and Exacerbation by
Viral Infections
Katharina Diepold, MD,
1
Barbara Schu¨tz, MD,
2
Kevin Rostasy, MD,
1
*
Bernd Wilken, MD,
3
Pia Hougaard,
4
Flemming Gu¨ttler, MD, PhD,
4
Anne Romstad, PhD,
4
and Lisbeth Birk Møller, PhD
4
1
Department of Pediatrics, Division of Neuropediatrics,
University of Go¨ttingen, Go¨ttingen, Germany
2
Department of Pediatrics, Division of Neuropediatrics,
Division Neurology, Charite´ Virchow-Klinikum,
Berlin, Germany
3
Department of Neuropediatrics, Klinikum Kassel,
Kassel, Germany
4
The John F. Kennedy Institute, Glostrup, Denmark
Abstract: Autosomal recessive forms of infantile dystonia due
to mutations in the tyrosine hydroxylase (TH) gene have been
described recently. The main clinical manifestations are Sega-
wa’s disease, or infantile hypokinetic rigid Parkinsonism. Here,
we report on a patient with hyperrigidity, psychomotor devel-
opmental 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
Key words: autosomal recessive dystonia; infantile dysto-
nia; tyrosine hydroxylase; levodopa; viral infection
In recent years, the genetic basis of several forms of primary
dystonias have been elucidated. They may occur as autosomal
dominant, autosomal recessive or as X-linked recessive forms,
and are inherited as monogenic traits.
1
Mutations in the respon-
sible genes, lead to biochemical defects in the neurotransmitter
synthesis of the basal ganglia, whereas neuroanatomical struc-
tures are usually preserved.
1
Dopa-responsive dystonia with childhood-onset dystonia and a
dramatic response to levodopa is due to at least two different
genetic defects. The most common form is caused by mutations in
the GTP-cyclohydrolase I gene, the first enzyme in the biosynthe-
sis of tetrahydrobiopterin (BH4) from GTP. This form is inherited
*Correspondence to: Dr. Kevin Rostasy, Department of Pediatrics,
Division of Neuropediatrics, University of Go¨ttingen, 37099 Go¨ttin-
gen, Germany. E-mail: krostasy@excite.com
Received 24 July 2004; Revised 6 November 2004; Accepted 10
November 2004
Published online 3 March 2005 in Wiley InterScience (www.
interscience.wiley.com). DOI: 10.1002/mds.20416
764 CLINICAL/SCIENTIFIC NOTES
Movement Disorders, Vol. 20, No. 6, 2005