Symposium on Neurological DisorderAdvances in Management-II

Movement Disorders in Children: Recent Advances in

Management
Emilio Fernndez-Alvarez

Neuropediatric Department, Hospital Universitario Sant Joan de Du, Avda Sant Joan de Du 2, Barcelona, Spain

ABSTRACT
In recent years there has been a growing interest towards pediatric movement disorders (PMD). The data derived from the
synthesis of clinical observation, neuroimaging, biochemical and, molecular genetics studies have allowed for the
identification of a significant number of pediatric diseases featuring movement disorders. The purpose of this review is to
outline an approach to the advances in management of dystonia, neurotransmitter disorders, tics, and paroxysmal
dyskinetic syndromes starting in children younger than 18 yr of age. [Indian J Pediatr 2009; 76 (5) : 531-536] E-mail:
efernandez@hsjdbcn.org

Key words : Pediatric movement disorders; Synthesis; Clinical observation; Advances; Management

Pediatric movement disorders (PMD) is a group of
disorders that occurs in pediatric age. Their main
symptoms are pathological movements that cannot be
fully initiated, modulated or interrupted voluntarily.
Involuntary movements caused by epileptic, cerebellar,
pyramidal and neuromuscular disorders are excluded.
This review will discuss on recent advances in PMD
management
Basic management of PMD
The first step to an appropriate management of PMD is
an accurate clinical history. The following aspects are
especially important.
1. A positive family history suggestive of dominant
genetic disorder, or the presence of consanguinity that
may suggest a recessive condition, are to be carefully
looked for, taking into account the marked variation of
expressivity of many dominant conditions.
2. The presence of perinatal antecedents of neonatal
encephalopathy or neonatal icterus is also of interest as
it may explain such disorders as athetosis or dystonia.
3. Information about the age of onset of the disorder,
its initial manifestations and course (acute onset, slow
progression, spontaneous improvement) is essential even
though the precise date of onset of certain symptoms
such as tremor may be difficult to document.
4. Attention should also be given to the possibility of
precipitating factors (drugs, infections, muscular
exercise) or of aggravating (e.g., effect of fatigue, diurnal
fluctuation) or ameliorating factors (e.g., sleep).
5. Description of the abnormal movements by lay
persons and even by physicians is often unreliable.
Photographs and, especially, videotapes of patients are
of extreme value and every effort should be made to
look at these.
The second step is the movement identification.
Types of abnormal movement disorders include rigid/
hypokinetic syndrome, dystonia/athetosis, chorea/
ballismus, tremor, myoclonus, tics and stereotypies. 1
(Table 1 and 2). It is useful to distinguish whether the
abnormal movement interferes with the voluntary
movements. (Table 3).
The next step is to see if the abnormal movement(s)
are the sole symptoms (often a primary disorder) or is
associated with other neurological and/or
extraneurological symptoms (secondary disorder). In
secondary disorders ancillary explorations
(neuroimaging, biochemical studies etc) are specially
useful diagnostic tools whereas in primary disorders
usually only molecular studies may contribute to the
diagnosis.

Correspondence and Reprint requests : Dr Emilio Fernndez-
Alvarez, Neuropediatric Department, Hospital universitario Sant
Joan de Du, Avda Sant Joan de Du 2, 08950 Barcelona, Spain
Phone: 0034 629719479; Fax: 0034 932033959
[Received March 17, 2009; Accepted March 17, 2009]
Only a few pediatric diseases with abnormal
movements have causal or substitutive treatment. In the
majority the treatment is symptomatic or merely
palliative. Fortunately, transient movement disorders

Indian Journal of Pediatrics, Volume 76May, 2009 531

 Emilio Fernandez-Alvarez

TABLE 1. Types of Abnormal Movements

1. Rigid-hypokinetic: Rigidity,bradykinesia/hipokinesia, rest tremor

2. Dystonia: dystonia is a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or
abnormal postures . Is caused by the simultaneous and sustained tonic contraction agonist and antagonist muscles and,
diffusion of contraction to muscles that would not normally participate in the assumption/ maintenance of a given posture
(overflow contraction). Athetosis: Dystal, continous, slow, irregular, dystonic movements
3. Chorea/Ballismus: A state of excessive spontaneous movements, irregularly timed, non-repetitive, randomly distributed
and abrupt in character occurring haphazardly with variable frequency and intensity.This may result in simple restlessness
with mild intermittent exaggeration of gestures or expressions, walking motions like those of a dancer or produce a
continuous flow of violent and incapacitating movements (Ballismus).
4. Tremor: Rhythmical oscillation of a part of the body around a fixed point or plane
5. Myoclonus: Sudden, brief, involuntary ,contractions of a muscle or group of muscles
6. Tics: Stereotyped, involuntary, sudden, inopportune, non- propositional, absurd, irresistible movements or sounds or noises,
of variable intensity
7. Stereotypies: Motor behavior that is repetitive, patterned, often seemingly driven, and nonfunctional

TABLE 2. Some Peculiarities of the Main Types of Abnormal
Movements
Rigid-hypokinetic Rarely full syndrome before12 yr of age
Athetosis Hand located
Dystonia Task-specific (writing but not feeding;
walking forward but not backward
Sensory tricks geste antagoniste
Tremor Other abnormal movements may be
rhythmic: myoclonus, stereotypies
Myoclonus Chorea, tics, dystonia may appear as
myoclonus
Tics Are semi voluntary
Do not interfere with voluntary movement
Stereotypies Sometimes can be semi voluntary.
Can be non rhythmic
Do not interfere with voluntary movement
Table 3. Abnormal Movements that Interfere Vs do not
Interfere with Voluntary Movements
TABLE 4. Transient Movement Disorders in Children
Benign myoclonus of infancy
Benign myoclonus of the newborn
Benign opsoclonus
Benign palatal myoclonus/tremor
Benign paroxysmal tonic upgaze
Benign paroxysmal torticollis of infancy
Fever induced dystonia
Jitteriness
Head nodding
Paroxysmal dyskinesia
Paroxysmal tonic upgaze deviation
Shuddering
Spasmus nutans
Tonic downgaze deviation
Tonic reflex seizures of early infancy (Vigevano 1996,2001)
Transient idiopathic dystonia of infancy
Transient paroxysmal dystonia of infancy
Transient tic

Interfere diagnostic clues are: age of onset mainly before 1 yr,

Rigid-hypokinetic sndrome monosymptomatic involvement (no developmental
Dystonia defect, pyramidal signs, or other defects), and a non-
Tremor progressive character. Familial cases have been
Myoclonus
reported in almost all these conditions, suggesting
Chorea/Balismus
Do not interfere: genetic factors.
Tics
Management of transient MD is mainly through
Stereotypies
family information and close follow-up as long the
symptoms are present. Exams are only indicated when
(as under) are quite common in the infantile period. sensible diagnostic doubt exists. Physical therapy or
Transient movement disorders drug treatment has limited indications.

Transient movement disorders are a clinically
heterogeneous group of primary PMD (Table 4) with
time limited expression, no or mild disability, and
spontaneous fading.2,3 Except paroxysmal tonic upgaze
deviation they disappear without, apparently, any after
effects. Toxic, metabolic and, drug-induced conditions
are excluded. Some have been recently identified such
as fever induced dystonia.4
The investigations are always normal and there are
no specific markers so the only diagnostic tool is
clinical experience. The definite diagnosis can only be
confirmed by the resolution of symptoms. Guided
Knowledge of these conditions prevents familial
anxiety, unnecessary tests and unnecessary sometimes
adverse- treatment. Diagnostic mistakes are frequent,
especially with epileptic or metabolic conditions.
The dystonias
The disorders that feature dystonia and athetosis as
their main manifestation continue to raise difficult
diagnostic and therapeutic problems more specifically
in childhood5. Several mutant genes have been found to
be linked to dystonic disorders (Table 5).
Recently DYT16, a new recessively inherited form of

532 Indian Journal of Pediatrics, Volume 76May, 2009

 Movement Disorders in Children: Recent Advances in Management
TABLE 5. Molecular Classification of Dystonias with Pediatric
Onset)
Locus Designation
DYT1 9q34 Idiopathic torsion dystonia (ITD).
DYT3 Xq13.1 .X-linked dystonia /parkinsonism
DYT5* 14q22.1 Deficit GTPCH
DYT8 2q33-35 Paroxysmal non-kinesigenic choreoathetosis
DYT9 1p21-23.3 Episodic choreothetosis with spasticity.
DYT10 16p11.2-q12.1 Paroxysmal kinesigenic dyskinesia
DYT11 7q21 Alcohol-responsive myoclonic dystonia
DYT12 9q13 Rapid-onset dystonia parkinsonism
DYT13 1p36.13-36.32 Early-onset dystonia with cranial
cervical and upper limb involvement
DYT16 2q31.2 Young onset dystnia-parkinsonism
*DYT5 and DYT14 are the same forms
early onset generalized dystonia has been reported.6 It
is caused by a homozygous mutation in PRKRA gene.
Even if at present, the phenotype needs to be interpreted
with caution because they are based on a small number
of reported cases, DYT16 shows some peculiar
characteristics: developmental delay and prominent
bulbar involvement with dysphonia, dysarthria and
even dysphagia. Moreover DYT16 has autosomal
recessive inheritance and the other monogenic
dystonias are autosomal dominant diseases.
Concerning myoclonus-dystonia syndrome (DYT11)
different studies confirm that SGDE gene plays a major
role in their pathogenesis. 7 The autosomal dominant
paternal inheritance, the very early onset (as young as
before 1 yr of age) and, the presence of distal myoclonus
in the upper limbs are important advances to the
comprehension of this disorder.
TREATMENT
Although a large number of pharmaceuticals and other
therapeutic methods have been used in the treatment of
dystonia, both idiopathic and symptomatic, only a few
controlled studies are available. The beneficial effects on
chronic dystonia of pharmacological agents are often
limited and transient. Unfortunately, it may be wiser to
accept the persistence of some dystonia rather than to
use massive doses as the effect of drugs on higher
cognitive functions are poorly known. The response to
therapy is unpredictable and the mechanisms of action
unknown.
The agents commonly used include dopaminergic,
anticholinergic and antidopaminergic drugs,
benzodiazepines and baclofen. Deep brain stimulation
is the most important advance in the treatment of
generalized dystonia mainly in DYT1. In focal or
segmental dystonias botulinum toxin may be useful.
Continuous infusion of intrathecal baclofen can be
useful in cases of severe secondary dystonia.
Indian Journal of Pediatrics, Volume 76May, 2009
A trial of L-DOPA is indicated in all cases of chronic
dystonia. Small doses are used (62.5-100 mg 2-3 times
daily) in association with a carboxylase inhibitor
(carbidopa, benzerazide) to assess the efficacy and may
be secondarily adjusted.
Benzhexol (trihexyphenidyl) may be partially
effective, start with a initial dose of 1.5 mg/day; the
dose is then increased slowly (0.5 mg/d every other
week) to reach doses as high as 20 mg/day in children.
Side-effects (dryness of mouth, constipation, blurred
vision, urinary hesitancy, anorexia, chorea, confusion
and psychosis) can be avoided in many cases if the
doses progression is slow enough. When benzhexol
fails tetrabenazine, pimozide (ORAP) benzodia-
zepines, baclofen, carbamazepine have to be tried
In case of generalised primary dystonia, chronic high
frequency stimulation of the thalamic ventrolateral
nucleus or of the globus pallidus internus may results in
dromatic improvement. Botulinum toxin (BT) is now
mainly used for the treatment of focal dystonias.
Physiotherapy is useful for preventing or treating
muscle retractions. Psychotherapeutic support is
obviously necessary in a chronic disabling disease with
preservation of intellectual functions.
In summary treatment of generalized dystonia in
children requires consistence and common sense on the
part of the family, patient and physician. The physician
must keep in mind that benefit of treatment is seldom
complete and stable and advise the patient and family
accordingly.
Dopamine defects
Pediatric dopamine defects show peculiar clinical
characteristics (Table 6). Extraneurologic symptoms,
neuroimaging abnormalities and metabolic studies in
serum and urine are usually lacking or normal. Only
CSF studies show a specific diagnostic metabolic
profile.
Phenotypes
Broadly, two main phenotypes may be distinguished:
TABLE 6. Symptoms That May Occur in Pediatric Dopamine
Defects
Dystonia
Daily fluctuation of symptoms
Tremor
Brisk reflexes
Oculogyric crises
Palpebral ptosis
Axial hypotonia
Swallowing/alimentation difficulties
Hypersalivation
Excessive sweating
Psychomotor/mental delay
Unstable temperature
533
 Emilio Fernandez-Alvarez
(1) Congenital or early infantile onset forms. Usually
these patients show a complex syndrome mixed rigid-
hypokinetic-like syndrome and a variety of symptoms
such as dyskinesias, severe hypotonia with brisk reflex,
abnormal ocular movements, ptosis, hypersalivation
and, thermoregulation and sweating disturbances.
Episodes of coarse upper extremity tremor is an almost
constant symptom. Diurnal fluctuation is difficult to
assess at so young age. Stress may aggravate the
symptoms, mainly tremor and ocular dyskinesia. EEG
abnormalities, both associated and not with epilepsy
(mainly myoclonic), may occur. As the child grows up,
developmental delay is often obvious. By reason of
severe hypotonia, hypomimia and ptosis, congenital
neuromuscular disorders or hypoxic ischemic
encephalopathy are frequent misdiagnosis.
Tyrosine hydroxylase (TH), aromatic L-aminoacid
decarboxylase (AADC), sepiapterin reductase (SR) and
recessive GTP cyclohydrolase I deficiences are known
causes. 8,9
(2) Late infantile or juvenile onset forms. First
reported by Segawa as hereditary progressive dystonia
with marked diurnal fluctuation, and later designated
as Dopa-responsive dystonia, this condition is now-a-
days considered a clinical syndrome. Dystonia and/or
parkinsonism and a marked and sustained response to
low doses of L-Dopa are necessary criteria.
Several enzymatic disorders cause this syndrome:
defect of GTP cyclohydrolase I, and defect of tyrosine
hydroxylase.
The median age of onset is around 5 yr. A very few
cases may have onset in the first year of life. The ratio of
females to males is 2.5:1. The prevalence is estimated at
0.5 per million.
An insidious onset, with fatigability, clumsiness of
gait, and dystonic postures of the feet are the first
symptoms. Often a progressive increase in severity of
symptoms during the day and a marked decrease-
sometimes complete disappearance-following sleep are
highly characteristic.
The clinical picture of GTP cyclohydrolase I
deficiency is quite variable so that a therapeutic test
with L-Dopa is indicated in all primary dystonic
syndromes. The dystonia is not fluctuating in upto
23% of cases, Congenital correctable pes equinovarus
and at 5 yr segmental dystonia, focal dystonia as
writers cramp or guitarists fingers, cases with subtle
signs sometimes induced only by writing, cases
without progression, cases with spontaneous
reduction/remission of dystonia and relapses, and
cases that require higher doses of L-dopa for control
have been reported.
Usually the disease is progressive and eventually
534
involves all four extremities but generally does not
affect the trunk. Abnormalities consistently predominate
in the lower limbs even in the rare cases of onset in the
upper extremities. Mild parkinsonian features such as
rigidity of the limbs and trunk and hypomimia are
commonly present. The disease may lead to severe
disability if left to its natural course. In 25 % of long-
lasting untreated cases, fixed dystonia and muscular
contractions in equinovarus develop and the benefit of
sleep becomes less obvious.
Brisk deep tendon reflexes and, in some cases, clonus
may erroneously suggest a diagnosis of diplegia or
spastic paraplegia.
TREATMENT
In late infantile and juvenile forms, administration of
small doses (3-5 mg/kg/d) of L-Dopa combined with
an inhibitor of peripheral decarboxylation usually
produces a rapid response which is independent of the
delay in initiating treatment.
The tolerance of treatment is good. When the dose is
excessive, choreic movements can occur but disappear
with reduction of the dose. As treatment is lifelong, the
lowest effective dose should be used. When the dose is
too low there may be mild stiffness of the limbs or a
tremor at the end of the day.
In congenital or early infantile onset the response to
L-Dopa treatment is variable. In some cases low-dose of
L-Dopa (0,3-1 mg/kg/d) therapy may produce a rapid,
spectacular improvement of symptoms. However, in
others even with low L-Dopa doses marked choreic and
dystonic movements may occur and a very slow dose
increase is necessary. But even with this strategy
effective therapeutic levels of L-Dopa cannot be
achieved. This phenomenon is unclear. Compensatory
receptor upregulation due to chronic partial
catecholamine deficiency has been suggested. 10
Clumsiness and mild mental retardation have been
reported in the follow-up of severe cases.
Choreas
One of the most interesting advances in chorea is the
identification of the autosomal dominant benign
hereditary chorea associated with extraneurological
features, mainly primary hypothyroidism and lung
disease. This syndrome is caused by mutations in the
TITF1 gene on chromosome 14.11 Interesting benefit with
L-Dopa treatment has been reported. 12
New paroxysmal disorders
Paroxysmal movement disorders are a group of
heterogeneous conditions that have been grouped
according their most salient features as kinesigenic,
Indian Journal of Pediatrics, Volume 76May, 2009
 Movement Disorders in Children: Recent Advances in Management
nonkinesigenic, and exercise-induced.
Clinical entities associating epilepsy and
paroxysmal dyskinesia have recently been described.
Infantile convulsions and paroxysmal choreoathetosis
(ICCA) is an autosomal dominant disorder in which
afebrile, brief, infantile convulsions and later
(childhood or adolescence) paroxysmal choreoathetosis
are associated. 13-17 The paroxysmal dyskinesias have
been reported as spontaneous, exertion-induced or
kinesigenic. Autosomal recessive rolandic epilepsy and
paroxysmal exercise-induced dystonia and writers
cramp have been reported in 3 patients of a
consanguineous family. 14 The main symptoms are
partial motor seizures of the Rolandic type, dystonic
writers cramp and, from age 2-3 yr to 8-11 yr dystonic
attacks involving the trunk or a hemibody appearing
after exercise. Interestingly, in spite of the different type
of inheritance both disorders have been linked to a
close region of chromosome 16 suggesting that they
might be caused by a defect in the same gene.13,15,16
Paroxysmal choreoathetosis with clinical
characteristics reminiscent of those of non-kinesigenic
paroxysmal dyskinesia but associated in some cases
with spasticity has been described under the term of
autosomal dominant paroxysmal choreoathetosis/
spasticity syndrome (CSE). Linkage to chromosome 1p
has been demonstrated.18
Cases associating paroxysmal exertion-induced
dyskinesia and epilepsy due to mutations in SLC2AI
gene encoding the glucose transporte GLUT-1 have
been reported.19
The high prevalence of metabolic diseases
A large number of inborn errors of metabolism (IEM) are
expressed in childhood age. PMD may be the first or the
predominant symptom. When tics are excluded, more
than 10% of PMD cases are due to metabolic diseases.20
A full description of these diseases is beyond the
scope of this review.
Unlike primary PMD, PMD caused by IEM have,
sometimes, a rapid, sometimes abrupt, generalised
onset associated with other signs of neurological
dysfunction (spasticity, ataxia, cognitive impairment,
seizures). They can appear in catabolic situations such
as infections or fasting. The presence of systemic
involvement, consanguinity or familial antecedents
reinforces the suspicion. The most common metabolic
PMD in terms of the onset age are shown in table 7.
Tics
Tics are the most prevalent PMD11 . Excellent reviews
and books have been published on this subject. 21 Here
we will only emphasise that because of their
tremendous poly- and proteomorphism, tics must be
Indian Journal of Pediatrics, Volume 76May, 2009
TABLE 7. Common Inborn Metabolic Diseases Associated
with PMD
1-New-born
(a) branched-chain organic acidurias
(b) Non ketotic hyperglycinemia
2-Infant
(a) Glutaric aciduria type I
(b) Leigh syndrome (subacute necrotizing encephalomyelopahy)
3 Children and adolescents
Niemann-Pick disease type C
Homocystinuria,
Pantothenate-kinase-associated neurodegeneration
(Hallervorden-Spatz disease),
GM1 GM2 gangliosidosis
suspected in any child showing abnormal localised
movement(s) starts without recognised cause. If there is
a familial history of tics, attention deficit and/or
obsessive traits, the possibility of tics is increased.
Perhaps it could be useful to keep in mind a poorly
reported feature: tics can start at very early age. The
average age of onset of tics is between 5 and 10 yr but
cases of onset earlier than 2 yr have been reported. 22
Interestingly, very early onset does not appear to have a
predictive value of severity or impairment.
CONCLUSION
In summary, PMD are not only an increasingly
interesting group of conditions within the large
pediatric brain dysfunction disorders, but also an
expanding area of neuroscientific knowledge. Many
unsolved significant questions are arising from accurate
clinical observations. Given the long life expectancy of
children, appropriate treatment given at the correct
moment in time will have an important, lasting effect on
the personal, social and healthcare domains.
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