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PubMed1999

Usefulness of molecular testing in Huntington's disease.

BACKGROUND: Uncertainty in diagnosing Huntington's disease (HD) may occur in the absence of a family history or typical movement disorders. HD is characterized by a progressive disturbance of typical movement disorders (i.e., chorea, athetosis), psychiatric symptoms (i.e., depression, insomnia, anxiety, suspiciousness), and cognitive deterioration, in the absence of a dominant family history of similar disorders. Often, some of these symptoms are missing, which makes the diagnosis difficult. In recent years molecular testing has become the gold standard for diagnosing HD. Diagnostic accuracy for HD on genetic screening of patients and their families is important. We evaluated a polymerase chain reaction (PCR) technique for the detection of CAG trinucleotide repeats in the Huntington IT15 gene on chromosome 4 for the diagnosis of HD. METHODS: A segment of the Huntington gene was amplified by PCR using the primers HD-1 and HD-3 flanking the CAG repeat sequence. Genomic PCR was performed on DNA extracted from the peripheral leukocytes of 12 patients from three unrelated families. One family had no documented history of movement or mental disorders, while the other two did. These two, therefore, required pre-symptomatic testing and exclusion of diagnosis in a seemingly symptomatic case. RESULTS: We successfully identified four subjects with expansion of CAG trinucleotide repeats in Huntington gene IT15 on chromosome 4. Movement disorder was present in three of these subjects. One was the sister of subject 4, who was asymptomatic. A sister of subject 9 was ruled out from having HD by PCR despite having depression symptoms, which are frequently seen in HD patients. CONCLUSIONS: Genetic testing is of prime importance in the establishment of an accurate diagnosis of Huntington's disease, especially in "sporadic" cases and presymptomatic family members, and for the exclusion of HD in family members with equivocal symptoms.

Adult↗

PubMedDate not supplied

The type A botulinum toxin in the treatment of spasticity in evolutive age.

BACKGROUND: Spastic hypertonia with or without athetosis is the main cause of impairment of motor functions. In actual treatments to this condition, it is provided the application of the type A botulinic toxin, which allows the decrease of spasticity and, at the same time, the amelioration of the movement control, reducing the incidence and gravity of contractures. METHODS: This work relates about the treatment of spasticity with the use of type A botulinic toxin in a group of 18 subjects in evolutive age. Before the treatment and during the follow-up, each clinical case had an objective general test, a neurologic test, a video recording and, at the same time, the administration of the Physician Rating Scale (PRS) to evaluate both pace and amplitude of the circular movement. RESULTS: Ten subjects showed a prominent reduction of hypertonia and contractures, amelioration in ambulating and grievous symptomatology. Eight cases presented a light amelioration; only a case suffered of a temporary hyposthomia. The sensibility of the subject to the toxin can ever since be researched, through the toxin inoculation in a not jet involved distal muscle, and through a following clinical or electromyographic evaluation on the caused effect. This allows to put in evidence the increasing resistance to the toxin after repeated administrations. CONCLUSIONS: It is interesting to evaluate the way in which the lives of patients and their parents have been influenced by the disease, and how the use of botulinic toxin may positively interfere on it.

Adolescent↗

PubMed2000

Preliminary studies on parkin gene deletion at exons 1 to 6 in Chinese patients with praecox Parkinson's disease.

OBJECTIVE: To search parkin gene deletion mutations at exons 1 to 6 in Chinese patients with praecox Parkinson's disease (PPD) and analyze them together with the clinical features of PPD. METHODS: DNA was extracted from peripheral blood of PPD patients; deletion mutations of parkin gene were identified by PCR amplification and agarose gel electrophoresis. The clinical data were analyzed together with the above information. RESULTS: Out of 21 patients, 2 had exon 1 deletion, 2 exon 4 deletion, and 1 exon 6 deletion. The mean age of the patients with deletion mutation was 45.7+/-1.8 years. All of the patients who had parkin gene deletion mutation had tremor, rigidity and bradykinesia, but athetosis and family history of PD were not found. In additon, the deletion mutations of parkin gene at exons 2, 3, 5, were not found. CONCLUSION: There are deletion mutations of parkin gene at exons 1,4,6 in PPD of Chinese, and such deletions generally happen on middle-aged patients.

Adolescent↗

PubMed2000

Pseudodystonic hand posturing contralateral to a metastasis of the parietal association cortex.

A 56 year-old patient, with a history of surgically removed breast cancer three years earlier, presented with incoordination of hand movements while playing piano. Neurological examination disclosed mild position sensory loss and limb-kinetic apraxia of the distal part of the right upper extremity. The most conspicuous neurological sign was a dystonic posturing of the right hand, which was only elicited when the patient outstretched her arms with the eyes closed. MRI revealed a metastatic lesion involving the left parietal cortex. The association of focal dystonic postures with lesions of the parietal association cortex indicates that dystonia may feature damage of brain cortical areas far from the basal ganglia. In addition, this provides support to the hypothesis that impairment of sensory pathways may play a role in the origin of some hyperkinetic movement disorders, such as dystonia and athetosis.

Apraxias↗

PubMed2000

[Clinical features of children with athetotic cerebral palsy in relation to their gestational age at birth].

We present here 38 patients with athetotic cerebral palsy who has trained in our clinic in recent 5 years. The mean age was 4 years and 4 months. In preterm cases, their gestational ages ranged from 27 weeks to 36 weeks, less than 31 weeks in 74%. MRI showed periventricular leukomalacia in 75%. Their clinical picture was mixed quadriplegia with athetosis and spasticity. Half of the cases were profoundly handicapped in motor ability. Fifteen cases had been born in term. Sixty percent of them had a non-mixed type of cerebral palsy. Five cases had no remarkable risk factor during the perinatal period. Six cases were able to walk with or without support. Hypoxic-ischemic encephalopathy was the main cause of athetotic cerebral palsy in recent years. Twin pregnancy was also an important risk factor, especially in preterm infants. MRI could detect lesions in the thalamus or the basal ganglia in only 17% of the 36 cases examined.

Brain↗

PubMed2000

A spectrum of dystonias-clinical features and update on management.

Dystonia is an interesting disorder characterized by involuntary movement of the body part or parts leading to abnormal deformed postures. The usual signs and symptoms are local pain, spasm and abnormal movements. Sensory trick is an important clinical phenomenon and is characteristic of dystonia. It is usually separated from other movement disorders such as chorea, athetosis, tics and myoclonus clinically. Various non-dystonic conditions simulate dystonia and need to be separated in view of different line of management. Improved understanding in molecular biology has helped in understanding of the disease. Confusing neuropathology and neurochemistry have deterred the finding of an effective drug, however empirical use of few drugs have improved the gloomy situation. Few conditions such as dopa-responsive dystonia have definite treatment. Recently use of botulinum toxin has provided beneficial response in hyper muscular contraction states such as dystonia and spasticity, Surgery and other non-medical therapies are effective in few situations.

Diagnosis, Differential↗

PubMed1975

[Results of surgical correction of flexion contractures of the knee joint in CP children (author's transl)].

Follow-up of 78 CP children with elongation of the tendons of knee flexors. In addition further operations were done in a large number of cases, frequently shortening of the patellar ligament, lengthening of hip flexors and correction of pes equinus. The further motor development shows worsening in 8, no improvement in 28 and improvement in 42 children. Analysis according to age showed better results in children under 9 years: Of the 48 younger children 33 showed progress, 13 free walking. Of the 30 older children only 9 showed progress and only 2 learned to walk freely. This difference was significant. Investigation of the causes for not walking showed the importance of motor preconditioning. Only children who had knee-standing before operation learned free walking. Major lack of motor development was most frequently preventing walking. Further causes were mental retardation, athetosis, pes calcaneus and general flexion patterns. While results in gaining extension at the knee were quite good, outward rotation at the hip averaged an improvement of 9.7 degrees. A favorable influence of combined elongation of knee flexors and adductor tenotomy at the hip in the CE angle was also clear. It diminished on average by 6.9 degrees. Special pre-operative conditions and the technique of examination are discussed in detail.

Adolescent↗

PubMedDate not supplied

[Symptomatology of movement disorders in children].

Abnormal involuntary movements are common symptoms in children. The neuroanatomical basis for these movement disorders is the extrapyramidal system. Although present at rest they may be more intensive during the will - depending motor activity and increased under stress. They are almost absent during sleep. The underlying causal factors of involuntary movement disorders include metabolic disorders, progressive neurodegenarative diseases, central nervous system infection. The symptomatology of chorea, athetosis, dystonia, tremor, myoclonus and tics are discussed. Special attention is paid to differential diagnosis of myoclonus, chorea and tics as well as to movement disorders and epilepsy.

Child↗

PubMed2002

New concept regarding chest pain due to hypoxia of the internal mammary arteries in more than 1,600 operated patients with cerebral thoracic neurovascular syndrome (CTNVS).

In this article we describe the role of compression of the vertebral, subclavian, internal mammary, internal carotid arteries, brachial plexus and coiling and kinking of the vertebral and basilar arteries, the faulty irrigation of blood supply and oxygen of the cerebellum and basal ganglia and other areas of the brain followed by metabolic processes. Among the effects are: a decrease in the secretion of dopamine at the level of the putamen, which produces the symptoms of symptomatic Parkinson's disease, chorea due to chronic transitory faulty blood supply and oxygen to the caudate nucleus, ballism by hypoxia at the level of sub-thalamic and thalamus nuclei and athetosis in the lenticular nucleus. This compression is caused by hypertrophy of the anterior scalenus muscles and the cervical ribs at the level of the vertebrae C6-C7; by the sternocleidomastoid at the level of the cervical atlas, by the pectoralis minor muscles and coiling and kinking of the vertebral, basilar and the internal carotid arteries. The decreased blood supply to the cerebellum and basal ganglia is the cause of the cerebral thoracic neuro vascular syndrome (CTNVS) and its neurological complications, among which are ipsilateral paralysis, symptomatic Parkinson's disease, functional Alzheimer's disease multiple sclerosis and others. We are presently engaged in genetic studies to widen our understanding of these illness.

Aged↗

PubMed2002

Secondary causes of paroxysmal dyskinesia.

PxD are sudden, episodic, involuntary movement disorders that may include any combination of dystonia, chorea, athetosis, or ballism. The majority of reported cases are familial or idiopathic; however, there have been several reports of secondary PxD. We report 20 new cases of secondary, non-psychogenic PxD, and review 130 cases reported in the literature. The results suggest that although PxD is a rare disorder, secondary forms may be more common than previously recognized, accounting for 26% of all cases in our series. Secondary cases are notable for their variability in age of onset, the presence of both kinesigenic and non-kinesigenic symptoms in some patients, the prevalence of sensory precipitants, and most importantly, the reversal of symptoms when the underlying etiology is treated in some patients. In addition to MS, other causes to be considered in patients presenting with PxD include cerebral vascular insufficiency and stroke, trauma, metabolic abnormalities, and CNS infections. Awareness of the association of these etiologies with secondary PxD will permit prompt diagnoses and appropriate interventions. Potential pathophysiologic mechanisms including loss of inhibition or primary neuronal hyperactivity are discussed. In addition, recent hypotheses regarding channelopathies in relation to PxD are presented.

Aged↗

PubMedDate not supplied

Oral self-mutilation in the Lesch-Nyhan syndrome.

Lesch-Nyhan Syndrome is a disorder caused by congenital absence of a purine metabolic enzyme, hypoxanthine-guanine phosphoribosyl transferase (HPRT). This syndrome is characterized clinically by mental retardation, chorea, athetosis, hyperuricemia, uricosuria and self-mutilation. This report is of two children, who are cousins, both of whom have Lesch-Nyhan syndrome and presented with severe self-mutilation wounds on their lip(s). Vital pulpotomy and coronal resection was done as a more conservative approach than extracting all offending teeth. By maintaining the root portion of the teeth in the bone, it is expected that preservation of the alveolar bone will be achieved.

Bicuspid↗

PubMed1998

Wilson's disease: clinical and radiological features.

BACKGROUND: Wilson's disease is a treatable movement disorder with autosomal recessive inheritance which is associated with severe morbidity and mortality if not treated early. MATERIAL AND METHODS: The clinical and radiological features of 22 cases of Wilson's disease seen during January 1984 to December 1993 were analysed for clinical presentation and common radiological features. RESULTS: Among all the patients extrapyramidal features were the commonest (19/22 patients), followed closely by impaired higher mental functions (17/22 patients) and cerebellar signs (11/22 patients). In patients with onset of symptoms before 20 years, the common presentations were impaired higher mental functions, speech disturbance, dystonia and choreo-athetosis; whereas in patients with onset after 20 years cerebellar signs were commonest. The commonest CT head abnormality was basal ganglion hypodensity (10 patients) followed by brain stem hypodensity (6 patients). CONCLUSIONS: The clinical and CT scan features are evaluated and compared with reported series. Hypodensities of brain stem earlier reported a rarity, was seen in 6 out of 22 cases.

Adolescent↗

PubMed1992

[A case of cardiac arrest encephalopathy in athetotic cerebral palsy].

A 25-year-old woman with cerebral palsy of spastic quadriplegia and athetosis showed typical cardiac arrest encephalopathy on neuropathology. The etiology of cerebral palsy was perinatal origin including prematurity, asphyxia and hyperbilirubinemia. Ventricular premature beats had developed since about 20 years of age. Muscle tone also increased with aging and symptoms of vago-vagal reflex were occasionally observed after eating. At 25 years, cardiac arrest occurred and cardiopulmonary resucitation was done immediately. She remained unconscious with absent corneal reflex and irregular respiration. EEG or auditory brain stem response showed flat activity. She died of respiratory failure 53 days after the episode of cardiac arrest. Neuropathology showed bilaterally symmetrical necrosis in the superior colliculi, gracilis nuclei, cuneate nuclei and spinotrigeminal nuclei accompanied with severe necrosis in the cerebrum and cerebellum. These findings in this adult case of total asphyxia were compatible with those observed in total plus partial asphyxia in the neonates. This discrepancy may be due to difference in cerebral maturity. Children or young adults with athetotic type cerebral palsy have a high risk of sudden death. Sudden cardiac arrest seems to play an important role in sudden death of these patients.

Adult↗

PubMed1992

[Treatment concepts in knee malposition within the scope of primary neurologic diseases].

Disease and trauma to the central and peripheral nervous system can result in various disturbances to the stability and mobility of the knee joint. The aims of orthopaedic treatment in flaccid paralysis, spasticity, rigidity, athetosis and ataxia are discussed. The effect on the musculo-skeletal system is most severe when the damage occurs prenatally. The tendency to deformity in perinatal cerebral spastic disorders of movement can be considerably reduced by early systematic functional treatment. Active and passive exercise, corrective and reflex inhibiting casts and orthoses have proved their value in the prevention and treatment of muscle contractures in flaccid paralysis and spasticity. The dangers of treatment, such as subluxation of the knee and hip joint, osteoporotic fractures, and traction paralysis, must be taken into account. Muscle contractures often hinder function, both in spasticity and in flaccid paralysis, more than the underlying disease. The operative treatment of flexion contractures and impaired knee flexion in the swing phase of the step is discussed. Gait analysis facilitates the planning of treatment. The hip, knee and ankle joints must be treated as a single functional unit.

Cerebral Palsy↗

PubMed1977

[Results and limitations of rehabilitation in cerebral palsy].

The authors have studied 1575 children treated by rehabilitation, splintage and eventually surgery. Some were followed up for 25 years and all were followed up for more than 4 years. The results are described for the upper limb in hemiplegics and quadriplegics and for the lower limb in paraplegics and quadriplegics. An analysis was made of the influence of I.Q., age at onset of treatment, and neurological features (spasticity, athetosis, sensory deficiency, anaesthesia). It is concluded that some attempts to treat must always be made. The authors describe the results that may be expected.

Adolescent↗

PubMed2004

Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong.

We report on two Hong Kong Chinese families with dentatorubral-pallidoluysian atrophy. Two children in one family presented with progressive myoclonic epilepsy syndrome, and two children in the other family presented with ataxochoreo-athetoid symptoms. Early-onset childhood dentatorubral-pallidoluysian atrophy involved mental retardation, whereas myoclonic epilepsy was the predominant complaint in later-onset childhood version of the disease. Aspiration pneumonia was common in the late stage of disease. Dentatorubral-pallidoluysian atrophy is an autosomal dominant condition attributed to CAG trinucleotide repeats in the dentatorubral-pallidoluysian atrophy gene. The four children in this series had 63 to 79 CAG repeats. The expanded allele was inherited from the father in both families. One father had 54 CAG repeats and was asymptomatic; the other had 66 repeats and had an unsteady gait. Because the radiological, electroencephalographic, and electrophysiological findings were non-specific, we suggest that DRPLA gene testing should be performed in any child presenting with a variable combination of myoclonic epilepsy, mental retardation or developmental regression, and ataxochoreo-athetosis.

Adolescent↗

PubMed2003

[How to clinically approach involuntary movements].

Upon clinical examination of involuntary movement, its correct diagnosis and classification is most important for choosing its most appropriate treatment. Correct diagnosis of involuntary movements should be based on their clinical characteristics rather than laboratory data. First attention should be paid to the way of its occurrence; whether it repeats itself at a relatively regular period or it occurs irregularly. Among irregular movements, chorea and ballism (us) belong to the same category clinically as well as neuropharmacologically; both respond to benzodiazepine and D2 receptor blockers. Dyskinesia and akathisia are often drug-induced. Athetosis often overlaps chorea and dystonia. Dystonia is characterized by excessive muscle contraction in terms of strength, spread and duration. Recently involvement of the sensori-motor cortex is emphasized in generation of focal dystonia. Myoclonus is usually caused by abrupt muscle contraction but also by sudden cessation of muscle contraction (negative myoclonus). Myoclonus and tics are usually irregular, but they can be rhythmic or quasiperiodic. Tremor is often associated with dysfunction of basal ganglia, cerebellum or thalamus, but recently an increasing attention has been paid to involvement of the sensori-motor cortex. Some involuntary movement could show features of two or more kinds of involuntary movements or it may shift among different kinds of involuntary movements or among different subgroups of that particular involuntary movement. Therefore, it is not advisable to feel obliged to classify every single involuntary movement into any pre-existing category. Instead a more flexible approach is warranted.

Dyskinesias↗

PubMedDate not supplied

[Pseudopolyneuritic symptoms with a medullary origin as the presenting symptom of multiple sclerosis].

INTRODUCTION: Myelopathy is, frequently, the first manifestation of a multiple sclerosis (MS), being the acute transverse mielitis, partial or incomplete, the habitual clinical syndrome. Other sensitive symptoms with an origin in the spinal cord as 'steroanesthesia', 'pseudo-athetosis' or 'pseudo-radiculopathy' have been described as unusual form of presentation in MS, but not the 'pseudo-polyneuropathy', perhaps in relation with its rapid progression in an acute transverse mielitis or other sensory pattern. CASE REPORTS: We presented two patients with a 'pseudo-polyneuropathy' pattern as the first manifestation of MS. In the two cases magnetic resonance imaging showed a cervical lesion of spinal cord with a probably inflammatory origin and other similar lesions in the brain. Neurophysiological studies were normal. We think that the 'pseudo-polyneuropathy' could be caused by an antero-lateral demyelinating process in the cervical spinal cord, with affectation of the anterior comissure and the ventral portion of lateral spinothalamic pathway. CONCLUSION: The 'pseudo-polyneuropathic' syndrome is uncommon form of presentation of MS in young people. We may be capable of recognize the 'pseudo-polyneuropathy' with spinal origin and early choose the appropriate complementary examinations for a correct diagnosis and therapy.

Adult↗