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366
Abstracts
into rodent striatum caused significant increases in oral
stereotypic behaviors and episodic utterances have been
questioned.
SY-10-3
Recent advances in genetics on Toulette syndrome
J. Walkup
Department of Pediatrics Division, The Johns Hopkins
University, USA
Abstract not submitted
SY-10-4
Tourette syndrome in Taiwan
H.-S. Wang
Division of Pediatric Neurology, Chang Gung Children’s
Hospital, College of Medicine, Chang Gung University,
Taoyuan, Chinese Taipei
The prevalence of TS in a primary elementary school here
is around 0.6%. It is no more a rare or degenerative disorder;
it is a model of neuropsychiatric disorder in children.
Although the pathogenesis of TS is still uncertain, the high
incidence offamilial cases up to 30% suggests a possibility of
genetic origin. Pharmacological, electrophysiological, and
neuroimaging evidences all implicate the hyper-responsiveness
of dopamine influencing the cortical-striatal-thalamocortical
circuits of patients with TS. Facing patients with tics,
first of all we must exclude the possibilities of Tourettism
with secondary etiologies. Ninety percent of patients with
primary tics occur transiently and spontaneously subside
within 1 year. Those patients with tics persisting longer
than a year will be chronic tic disorder or TS depending on
how many types of motor and/or vocal tics they have ever
had. Tics are mild in 73% of patients with TS. For them,
understanding and acceptance from family, teachers, and
friends are the most important things. When tics are so severe
that medication is necessary, haloperidol is no longer the first
or only choice. Clonidine or atypical neuroleptics such as
risperidone or olanzapine should be used first for their
minor side effects. Many other medicines such as topiramate
are still in trial. Some children visiting our Tourette Clinics
were found to have high serum copper concentrations that are
under our further evaluation.
SY-10-5
Toulette syndrome in Asian countries
Y. Nomura
Segawa Neurological Clinic for Children, Chiyoda-ku,
Tokyo, Japan
Abstract not submitted
SY-11
Neurocutaneous Syndromes
SY-11-1
Advances in understanding neurological and
behavioural phenotypes in tuberous sclerosis
P. Curatolo
Pediatric Neurology, Tor Vergata University of Rome,
Rome, Italy
Tuberous sclerosis (TSC) is a disorder of cells migration,
proliferation, and differentiation. Cell lineage and cell
migration disorders in the developing cortex of TSC children
produce very different neurological phenotypes including
epilepsy, cognitive impairment and autism. Cortical
tubers constitute the hallmark of the disease. At the moment
about 400 different mutations in both TSC genes are known.
Patients with TSC1 mutation have on average milder
disease in comparison with patients with TSC2 mutations.
They have a lower frequency of seizures and moderatesevere
mental retardation, fewer cortical tubers, less severe
kidney involvement and facial angiofibromas, and no retinal
hamartoma. Epilepsy is the most common neurological
feature. Seizures often begin in the first months of life and
are frequently intractable. Selected drug resistant patients
could be considered for surgical treatment. The finding of
the multiple areas of cerebral involvement should not automatically
preclude epilepsy surgery in a child with intractable
seizures and well-defined seizures origin. Autism
appears to be more common in infants with frontal and
parieto-temporal tubers and may be due to an early dysfunction
in the associative areas. Autism could be also considered
a secondary effect of seizures and/or mental
retardation. An alternative and more intriguing explanation
is that this abnormal behavior may reflect a more direct
effect of the abnormal genetic program. A couple of genome
scans in autism suggested that a potential susceptibility gene
may be located on chromosome 16p13. The genetic analysis
of the short arm of the chromosome 16 will help to localise
such candidate gene and clarify its position with respect to
the TSC2 locus.
SY-11-2
Recent progress about mutational analysis of TSC1 and
TSC2 genes and functions of the hamartin protein
E. Nanba
Gene Research Center, Tottori University, Yonago, Japan
TSC is a neurocutaneous syndrome characterized by
development of unusual tumor-like growths. Involvement
of the brain is associated with the most problematic clinical
manifestations of TSC, including intellectual retardation,
epilepsy and abnormal behaviors. Until now, over 300
mutations of TSC1 and TSC2 were reported. We have