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At least 937 records · Page 52Linked to original sources
PubMed1995

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

We confirmed a homozygous type of relatively small expansion of CAG triplet repeats (57 repeats) in the short arm of chromosome 12 in a male patient with dentatorubral-pallidoluysian atrophy (DRPLA) by polymerase chain reaction. He showed early onset (age, 17 years) of DRPLA. There was good correlation of the age of onset with the number of triplet repeats. The homozygous state of the expansion of the triplet repeats was responsible for the early onset and severity of his DRPLA.

Adult↗
PubMed1997

Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology.

We describe clinical features of a large Polish-American kindred in which autosomal-dominant, paroxysmal dystonic choreoathetosis (PDC) was linked to a locus on chromosome 2q. Episodes of generalized dystonia and choreoathetosis involving the face and all extremities began in early childhood, lasted for 30 minutes to several hours, and occurred up to several times each week. There was no interruption of consciousness and EEGs were normal during the episodes. Paroxysmal dyskinesia occurred at rest both spontaneously and following caffeine or alcohol consumption. Neurologic examinations were normal between attacks. The cause of PDC is unknown. We deduced a model of PDC pathophysiology from analyzing neurophysiologic effects of alcohol and caffeine (which provoke attacks of PDC), the variably beneficial effects of levodopa-carbidopa, and the occurrence of dystonia and paroxysmal dyskinesia in biopterin synthesis disorders. We propose that nigrostriatal neurons in PDC patients have either marginally deficient dopamine synthesis or excessive alcohol- and caffeine-induced dopamine release; and that following alcohol- and caffeine-induced dopamine release, PDC patients experience a period of dopamine deficiency.

Athetosis↗
PubMed1997

Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis.

Genes for paroxysmal choreoathetosis have been localized to chromosomes 1p and 2q. We have reinvestigated one of the classic large autosomal-dominant pedigrees of the dystonic Mount-Reback type of paroxysmal choreoathetosis 20 years after its first assessment. These patients prefer diazepam for both prevention and treatment of attacks and did not develop addiction on an intermittent regime. Migraine occurred in a third of the patients. Genetic data localized the underlying mutation to the FPD1 locus (familial paroxysmal dyskinesia type 1) on chromosome 2q and support locus homogeneity for the Mount-Reback syndrome. The data also refine the FPD1 candidate region to 3.6 cM between the markers D2S164 and D2S2359, which may facilitate the investigation of the role of the candidate ion channel gene SLC2C.

Adolescent↗
PubMed1997

Gabapentin for familial paroxysmal dystonic choreoathetosis.

We present a 4-year-old girl with stereotyped episodes of inability to speak and dystonic posturing of the face and extremities lasting 20 minutes. An older brother and mother had similar spells in childhood. Routine and video-EEG during events were normal. The diagnosis was non-kinesigenic paroxysmal dystonic choreoathetosis since the episodes were not exacerbated by movement. Gabapentin 10 mg/kg/d eliminated most attacks.

Acetates↗
PubMed1999

(+)-alpha-[11C]Dihydrotetrabenazine PET imaging in familial paroxysmal dystonic choreoathetosis.

Clinical observations suggest a disturbance of striatal dopaminergic function in familial paroxysmal dystonic choreoathetosis (PDC). The authors used PET with [11C]dihydrotetrabenazine (DTBZ) to study striatal dopaminergic innervation in PDC. The results did not reveal abnormal DTBZ binding potential in PDC striatum. This suggests that dopaminergic abnormalities, if present, may be due to altered regulation of dopamine release or to postsynaptic mechanisms, rather than to an altered density of nigrostriatal innervation.

Adult↗
PubMed1986

Hyperglycemia-induced hemichoreoathetosis: the presenting manifestation of a vascular malformation of the lenticular nucleus.

A 72-year-old diabetic woman developed paroxysmal hemichoreoathetosis during an episode of nonketotic hyperglycemia. The movement disorder abated as the blood glucose normalized. A computed tomographic scan revealed a vascular malformation involving the lenticular nucleus on the side contralateral to the dyskinesia. Hyperglycemia has rarely been reported to cause episodic dyskinesias, but there have been no prior reports of patients with striatal vascular abnormalities in whom hyperglycemia seemingly caused a transient movement disorder.

Aged↗
PubMed2006

Bilateral stimulation of the globus pallidus internus to treat choreathetosis in Huntington's disease: technical case report.

OBJECTIVE AND IMPORTANCE: Huntington's disease (HD) produces debilitating motor abnormalities that are poorly responsive to medical therapy. Deep brain stimulation (DBS) may offer a treatment option for afflicted patients, but its role in the management of HD remains unclear. In the present case, DBS leads were implanted bilaterally into the posteroventral globus pallidus internus (GPi) to control disabling and medically intractable choreathetosis in a severely affected HD patient. The surgical procedure, intraoperative electrophysiological findings, and 12-month postoperative course, with patient video, are presented. CLINICAL PRESENTATION: This 41-year-old man with genetically confirmed HD developed motor symptoms at age 28. He had completed multiple medical trials without alleviation of his progressive and debilitating choreathetosis. Extensive clinical assessment, including neuropsychological testing, was performed to determine surgical candidacy. INTERVENTION: DBS leads were bilaterally implanted, under stereotactic guidance, into the posteroventral GPi. Disease progression and symptom control were assessed at regular postoperative intervals. Bilateral pallidal stimulation produced a dramatic reduction in choreathetoid movements and improvement in overall motor functioning. The patient also exhibited normalization of body weight, mood, and energy level, as well as improved performance of activities of daily living. These effects were sustained at 1 year after surgery. CONCLUSION: The clinical benefits of DBS observed in this HD patient were comparable to those reported in other hyperkinetic disorders and demonstrate that pallidal stimulation can provide long-term alleviation of HD-associated choreathetosis.

Adult↗
PubMed1995

A measurement system for the recognition of arm gestures using accelerometers.

This paper describes a strategy to measure arm movements using accelerometers for the computer recognition of arm gestures. Gesture recognition is being investigated as an alternative method of computer input for people with severe speech and motor impairment; the emphasis is on the needs of people with athetoid cerebral palsy who have difficulties with existing computer input devices. An initial model-based approach to estimate the kinematic motion of the arm from acceleration measurements is given, followed by the chosen measurement scheme. The current system considers the forearm as a rigid body and uses two data streams derived from four linear accelerometers. By treating these signals as outputs from postulated mechanical models, the data are reduced to two series of step inputs that are appropriate for pattern classification and recognition. Although this does not in any way model the arm, the concepts used are based on the type of driving signals expected in the control of arm gestures. Initial experimental results show that the information content of gestures is preserved by this data parameterization.

Arm↗
PubMed1984

Surgical treatment of cervical spondylotic myelopathy complicating athetoid cerebral palsy.

Operative treatment was performed in nine patients with cervical spondylotic myelopathy complicating athetoid cerebral palsy. The first two patients were treated by laminectomy, and the other seven by anterior interbody fusion. The symptoms in both the laminectomy patients improved after operation, but became worse again when cervical instability developed; they then had to have an anterior fusion in addition. In six of the seven patients who had primary anterior fusion a halo-cast (or a halo-vest) was used to keep the cervical spine immobile, and good bony fusion was obtained with satisfactory results. However, in one patient no halo apparatus was used, bony union did not occur and the radiculopathy reappeared. In cervical myelopathy complicating athetoid cerebral palsy laminectomy is contra-indicated; anterior fusion combined with a halo apparatus is, however, satisfactory.

Adult↗
PubMed1983

[Familial paroxysmal choreoathetosis. Report of 2 cases in one family].

The authors present two cases of a very rare condition known as familial paroxysmal choreoathetosis. The patients, mother and daughter, were 28 and 8 years old and the disease started when they were 6 and 2 year-old, respectively. The paroxystic involuntary movements were generalized, producing speech and gait disturbances, without any impairment of consciousness. The duration of the episodes lasted 30 to 180 minutes. The paroxysmals occasionally could be triggered by physical stress or alcohol intake. The neurological examination and the electroencephalogram during free intervals were normal. Searching the available literature these two cases could be classified as belonging to the same form described by Mount and Reback, in 1940.

Adult↗
PubMed1994

[Kinesigenic paroxysmal choreoathetosis. Report of a case treated with carbamazepine].

Paroxysmal choreoathetosis (PC) is a rare entity, and professionals who study movement disorders do not find it easily. Paroxysmal occurrence of dystonic, choreic, athetosic movements is the typical feature of this syndrome. The onset is always subtle and the attacks can last from few seconds to hours. Sporadic cases and more common familial cases have been reported. The therapeutic approach with anticonvulsant drugs like carbamazepine is not always successful. However, there is a good response to this drug in the kinesigenic form of PC. The case of a 21 years old male patient is reported here. The onset occurred during puberty, at 14 years old. Neurologic examination was normal between attacks. Subtle and brief choreic, athetosic and dystonic limb and legs movements precipitated by sudden quick and unexpected passive movements, as by startle, were observed during the attacks. There was no familial history. Routine laboratorial investigation, EEG, CT scan and MRI did not show significant changes. Carbamazepine in low dosages (100 mg/day) brought a complete control of the attacks.

Adult↗
PubMed1999

[Ataxic instable Alajouanine-Akerman's hand: recovery of a semiologic sign].

It is aimed to recover, considering its historical value, a semiological sign described in 1931 by an eminent neurologist of Rio de Janeiro, together with a master of the French neurology. In the article by Alajouanine and Akerman, named "Attitude of the hand in an astereognostic monobrachial crisis of multiple esclerosis", a semiologic alteration was described which was characterized by "an instability in the attitude of the fingers, which is observed mainly with the hand extended in the attitude of swearing". This attitude of hand worsened a lot with the eyes closed and was accompanied by sensory ataxia, astereognosis, and impaired deep sensation in the affected member. From the original article, it is possible to consider at the present time the described semiologic alteration as a form of pseudoathetosis localized in the hand.

Ataxia↗
PubMed1987

Paroxysmal kinesigenic choreoathetosis and paroxysmal dystonic choreoathetosis in a patient with familial idiopathic hypoparathyroidism.

A patient with familial idiopathic hypoparathyroidism whose major symptoms were paroxysmal kinesigenic choreoathetosis (PKC) and paroxysmal dystonic choreoathetosis (PDC) was reported. CT revealed marked calcification in the basal ganglia, the thalamus and the dentate nucleus of cerebellum. Positron emission tomographic (PET) study showed decreased glucose metabolism in the basal ganglia and thalamus. The paroxysms were eliminated by the normalization of serum calcium level. Thus the paroxysms seemed to be induced by hypocalcemia which stimulated the lesions in the basal ganglia and thalamus, on one occasion, as in PKC, and on the other occasion, as in PDC. Concomitant occurrence of both PKC and PDC in a patient is unique and is of interest in considering the pathomechanisms of these different but related disorders.

Adult↗
PubMed1992

Persistent hemichorea associated with thyrotoxicosis.

We describe a case with unilateral chorea associated with thyrotoxicosis. A 23-year-old female with no family history of neurological diseases acutely developed choreic movements of the left extremities during gross thyrotoxicosis. CT scan and MRI study demonstrated no abnormality. Single-photon emission CT with technetium Tc 99m-labeled hexamethylpropyleneamine oxime revealed normal cerebral perfusion. Although the choreic movements were partially improved by dopamine antagonist, they persisted for two months until successful treatment of the thyrotoxicosis finally abolished these movements. Increased sensitivity of dopamine receptors may be responsible for persistent choreic movements in thyrotoxicosis.

Adult↗
PubMed1999

Paroxysmal kinesigenic choreoathetosis associated with frontotemporal arachnoid cyst--case report.

A 17-year-old male presented with paroxysmal kinesigenic choreoathetosis (PKC) associated with frontotemporal arachnoid cyst. Xenon-133 single photon emission computed tomography detected a slight but equivocal decrease in regional cerebral blood flow in the vicinity of basal ganglia associated with the PKC episodes. PKC continued after surgical removal of the cyst but was well controlled by oral administration of carbamazepine. Whether the pathogenesis of symptomatic PKC was associated with the cortical lesion could not be determined in the present case.

Adolescent↗