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PubMedDate not supplied

Cerebellar stimulation for cerebral palsy spasticity, function, and seizures.

Chronic cerebellar stimulation (CCS) applied to the superio-medial cortex reduces generalized cerebral spasticity, athetoid movements, and seizures. Eighteen clinics have reported on 600 cerebral palsy (CP) patients who comprise 90% of those treated with CCS. CP patients have varying degrees of limited abilities interfered with by spasticity (primitive reflexes, increased muscle tone, co-contractions, and spasms) and by athetoid movements in two-thirds of the patients. With CCS, spasticity reduction occurred in 85% (marked 25%, moderate 34%, mild 27%) and resulted in improvements in patient drooling, speech, respiration, posture, motor performance, gait, joint range of motion, and mood states. Radiofrequency (RF)-linked stimulators were used initially with serious equipment and calibration problems; 68% of 422 patients improved. When totally implantable controlled-currrent stimulators were used, 86% of 178 patients improved. Our double-blind study of 20 CP patients using this implantable stimulator showed 12 (60%) improved in motor performance, joint range of motion, and profile of mood states when the stimulator was ON. When abilities are graded (1: poor to 9: best), the seven patients with the higher functioning grades (5-8) all improved (99% confidence level). Intractable seizures occurred in 27 (8%) of our CP patients. At a 17-year follow-up, 19 patients contacted were using or had used CCS with 10 (53%) seizure-free and 6 (32%) with reduced seizures. CCS should be given by a totally implanted controlled-current stimulator (1-4 microCoulombs/sq. cm. /phase, 150-200 Hz) applied intermittently to the superio-medial cerebellar cortex for safe, effective, and continuous results.

Athetosis↗
PubMed1994

Lindane toxicity in a 24-year-old woman.

A case of lindane toxicity in a 24-year-old woman who used lindane shampoo for treatment of an alleged case of lice infestation is described. The patient experienced uncontrolled motor activity that began approximately 2 hours after treatment and resolved approximately 48 hours later. A review of the literature revealed that most cases of acute lindane toxicity resulting from topical application have occurred in the pediatric and geriatric populations and are manifested by grand mal seizures. No case of acute lindane toxicity resulting from topical use was found in the emergency medicine literature. This case illustrates the toxic, neurologic effects of lindane in a young adult.

Acute Disease↗
PubMed1994

Choreoathetotic movement disorder in a boy with Mycoplasma pneumoniae encephalitis.

We present a case of a 10-year-old boy who presented to the emergency department with high fever, acute choreoathetosis, weakness, and dysarthria. An EEG showed generalized slowing, and serologies defined an acute case of Mycoplasma pneumoniae encephalitis. This report describes the most common presentations, therapy, and outcomes of M pneumoniae encephalitis.

Acute Disease↗
PubMed1991

Paroxysmal choreoathetosis precipitated by movement, sound and photic stimulation in a case of arterio-venous malformation in the parietal lobe.

A patient is presented with paroxysmal choreoathetosis precipitated by movement, sound and photic stimulation associated with an arterio-venous malformation (AVM) who responded to carbamazepine treatment. Hemodynamic circulatory disorder of the sensory-motor cortices having AVM may alter striatal function and produce paroxysmal choreoathetosis. This finding supports the concept that paroxysmal choreoathetosis results from an abnormality at the connections between basal ganglia and cerebral cortices.

Acoustic Stimulation↗
PubMed1998

Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy.

OBJECTIVES: To study the clinical characteristics of paroxysmal kinesigenic choreoathetosis (PKC) in our local population and its relationship to epilepsy. METHODS: We reviewed retrospectively 15 patients who were managed by neurologists in our department from 1982 to 1996. The literature was also reviewed to study the association between PKC and epilepsy. RESULTS: In our study, all the cases were idiopathic. The male to female ratio was 14:1 with all major races represented. Sixty percent of our patients suffered dystonic posturing rather than chorea, during the attacks. Twenty-one percent had a family history of a similar disorder which appeared to be of autosomal dominant inheritance. The sporadic form (79%) predominated in Singapore. One had a history of febrile fits while two had a history of epilepsy. We reviewed the available literature and found five other patients with idiopathic PKC also suffering from epilepsy. Of the 83 patients reviewed, 8% had epilepsy. This further strengthens the relationship between the two conditions. All our patients responded well to phenytoin at doses between 100 and 400 mg/day. CONCLUSION: PKC affected all three major races in our population with a high male to female ratio of 14:1. Seventy-nine percent of our cases were sporadic and 60% suffered dystonic posturing during attacks. Of the cases reviewed, 8% of patients with idiopathic PKC also had epilepsy.

Adolescent↗
PubMed2000

Loss of the muscle silent period evoked by transcranial magnetic stimulation of the motor cortex in patients with cervical cord lesions.

The silent period following motor evoked potentials in small hand muscles after transcranial magnetic stimulation (TMS) of the human motor cortex is considered to be cortical origin. The authors report three patients with cervical spinal cord lesions who showed loss of the cortical silent period (CSP) after TMS. One patient had traumatic cervical cord injury, and the other two patients had cervical spondylosis. All the patients had cervical cord compression on magnetic resonance imaging. TMS study showed loss of the CSP in both the hand and foot muscles in two patients and only in the foot muscle in one patient. Paired TMS study in one patient with pseudoathetotic hands showed reduced inhibition within the motor cortex. The hand weakness or interrupted sensory afferents might have caused motor cortical reorganization or hyperexcitability, leading to the loss of the CSP.

Adult↗
PubMed2002

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.

Cotransporters represent a major class of proteins that make use of ion gradients to drive active transport of substrate into cells. A new human gene, KST1, encoding a member of the sodium/glucose cotransporter family, was identified onto human chromosome 16p12-p11. This genomic region contains a major gene responsible for a syndrome of infantile convulsions and paroxysmal dyskinesia (ICCA syndrome), inherited as an autosomal dominant trait, as well as for benign familial infantile convulsions (BFIC). The entire coding sequence of the human KST1 gene was determined using a combination of methods including in silico comparison of its rabbit orthologous DNA complementary to RNA (cDNA) to the corresponding human genomic sequences, reverse transcription-polymerase chain reaction on human brain RNA, 5' and 3' rapid amplification of cDNA ends. The gene is divided into 16 exons and the predicted protein of 675 amino acids contains 14 transmembrane domains. It shares significant homology to the sodium-glucose transporter 1 cotransporter proteins. An alternatively spliced transcript resulting from the skipping of exon 6 led to a predicted protein lacking the 4th transmembrane domain. As ion transporters are good candidates for a large variety of human diseases, including paroxysmal disorders, a mutation search was performed in four families with ICCA or BFIC syndromes. No pathogenic mutation was found, although several polymorphic variants with amino acids exchanges were identified. Due to its broad expression in human tissues, the human KST1 gene could be involved in several other diseases mapped to human chromosome 16p12-p11.

Amino Acid Sequence↗
PubMed2000

Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis.

We report seven families and two sporadic cases in which benign infantile convulsions and paroxysmal kinesigenic choreoathetosis were co-segregated. Clinical investigations included physical and neurological examinations, blood electrolyte values, interictal and ictal electroencephalograms, and computed tomography or magnetic resonance imaging of the brain. The family pedigree was confirmed and the clinical history of the relatives was obtained. Seventeen individuals developed infantile convulsions followed by paroxysmal dyskinesias during childhood or adolescence. Six had only infantile convulsions, and two had only paroxysmal dyskinesias. The seizures never persisted into childhood or recurred in adulthood. The seizure type was a complex partial seizure, with or without secondary generalization, in nine of 14 patients. Paroxysmal dyskinesias, a subgroup of paroxysmal kinesigenic choreoathetosis, occurred for less than 5 min. The attacks of dyskinesias began at age 5-12 years in most patients, and tended to remit in adulthood. The mode of inheritance was apparently autosomal dominant in four of the families (17 affected individuals), who were diagnosed with ICCA syndrome (infantile convulsions and paroxysmal choreoathetosis). However, the condition occurred only among siblings in three families (six patients), and sporadically in two patients, suggesting genetic heterogeneity in this distinct co-segregation.

Adolescent↗
PubMed2000

Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism.

We reported a 15-year-old boy with idiopathic hypoparathyroidism who presented with paroxysmal kinesigenic choreoathetosis at age 10. Calcium levels were low and intact parathyroid hormones were undetectable in serum. Computed tomography showed calcifications in the basal ganglia, thalamus, and cerebral white matter. He had a history of infantile convulsions with a benign outcome. The convulsions occurred in clusters at age 2.5 months, but they never recurred. This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and choreoathetosis (ICCA) syndrome

Adolescent↗
PubMed1992

Primitive reflex profiles in infants: differences based on categories of neurological abnormality.

In order to clarify reflex profiles in the first year of life in connection with categories of neurological abnormality, six primitive reflexes, i.e., the crossed extensor reflex, suprapubic extensor reflex, heel reflex, Galant response, asymmetric tonic neck reflex and plantar grasp response, were examined in 458 normal infants, 78 infants with cerebral palsy (CP) and 81 infants with mental retardation (MR), whose diagnoses were confirmed at a later follow-up examination. The change in the mean score for each of these reflexes with age was characteristic for each category or type of neurological abnormality. This implies that a presumptive diagnosis can be made in neurologically high-risk infants by examination of the primitive reflexes. Such reflexes are therefore of specific significance, among other neurological criteria, in infants within the first year of life.

Ataxia↗