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At least 469 records · Page 26Linked to original sources
PubMed1980

Progressive dystonia masking ataxia in ataxia-telangiectasia.

A 10-year-old boy with ataxia-telangiectasia had severe progressive dystonic posturing that masked the ataxia until treatment relieved the dystonia. A younger sister had mor classical neurologic manifestations of the disease. However, both children had telangiectasia, immunologic abnormalities, and other features of ataxia-telangiectasia. The pathologic changes that have been found in the basal ganglia at autopsy and the occurrence of choreoathetosis, oculomotor disturbances, and now dystonia indicate that the function of the basal ganglia in patients with ataxia-telangiectasia is abnormal. Children who have basal ganglial abnormalities should be studied for ataxia-telangiectasia.

Ataxia Telangiectasia↗
PubMed1980

A pedigree of amyotrophic chorea with acanthocytosis.

Several pedigrees of which some members showed a clinical syndrome consisting of mental changes, choreatic involuntary movements, limb muscles atrophy, and acanthocytosis have been reported in the United States and the United Kingdom. Such a case and some of the family members who had such abnormalities as acanthocytosis, hypo-beta-lipoproteinemia, convulsions, and confusion was observed. Results of biochemical analysis of catecholamines and their metabolites in CSF and urine showed an elevated value of norepinephrine in CSF and increased urinary secretion of DOPAC. The authors propose to designate this syndrome an amyotrophic chorea with acanthocytosis.

Athetosis↗
PubMed1982

Abnormal computed tomograms in paroxysmal kinesigenic choreoathetosis.

In a case of paroxysmal kinesigenic choreoathetosis (PKC), an abnormality was found in the right hemisphere by computed tomography. It was not possible to define the pathological condition or the extent of the abnormality, and it is not known whether there was involvement of the basal ganglia. Nevertheless, this finding supports the concept that PKC results from an abnormality at the level of the cerebral hemisphere.

Adult↗
PubMed1994

Choreoathetosis/ballismus associated with pentamidine-induced hypoglycemia in a patient with the acquired immunodeficiency syndrome.

OBJECTIVE: To describe the association between acute choreoathetosis/ballismus and hypoglycemia related to pentamidine therapy in a patient with the acquired immunodeficiency syndrome. DESIGN: A single case report. MEASURES: Clinical observation, laboratory analysis of blood and cerebrospinal fluid, and magnetic resonance imaging of brain. RESULTS: No association was found apart from hypoglycemia. The abnormal movements and hypoglycemia did not recur following cessation of pentamidine. CONCLUSIONS: Hypoglycemia related to pentamidine therapy can cause neurologic disorders in patients with the acquired immunodeficiency syndrome.

Acquired Immunodeficiency Syndrome↗
PubMed1999

Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

BACKGROUND: Paroxysmal dystonic choreoathetosis (PDC) is a rare familial movement disorder that has been mapped to chromosome 2q31-36. OBJECTIVE: To study the first Japanese family with PDC clinically and genetically. PATIENTS AND METHODS: We studied a large Japanese family in which at least 17 members in 6 generations have been affected by PDC. We interviewed and examined 26 family members, 8 of whom revealed choreoathetosis-like and dystonialike involuntary movement and 1 of whom revealed no involuntary movement but only muscle stiffness such as the aura of paroxysmal dystonic choreoathetosis (PDC). Genetic linkage studies of this family were carried out with polymorphic DNA markers. RESULTS: The attacks of involuntary movement or muscle stiffness were precipitated by ovulation, menstruation, emotional stress, or caffeine or alcohol ingestion. Magnetic resonance imaging of the brain revealed no abnormalities. Clonazepam therapy was effective for reducing the attacks, and ingestion of garlic was believed by patients to be effective for softening the attacks. An affected woman with only muscle stiffness showed remission after hysterectomy for hysteromyoma. This woman also had the disease haplotype and transferred it to her typical PDC-affected daughter. Maximal pairwise logarithm of odds scores exceeding 2.00 were obtained at D2S2250, D2S1242, D2S377, D2S2148, and D2S126. The PDC gene was demonstrated by linkage analyses to be located in a 15.3-centimorgan interval lying between D2S371 and D2S339 based on pairwise and multipoint logarithm of odds scores and obligate recombination events in affected individuals. CONCLUSIONS: Linkage of PDC to chromosome 2q32-36 was confirmed in a Japanese family. The clinical characterizations of this family with PDC include that ovulation seems also to be a precipitating factor of the attacks and that hysterectomy seems to be effective for softening the attacks. Although low-dose clonazepam treatment was most effective, garlic use was believed by affected members to be effective for softening the attacks. Furthermore, based on the results of clinical and genetic analyses, we suggest that muscle stiffness without involuntary movement may represent a forme fruste of PDC.

Athetosis↗
PubMed2000

Hemidystonia and hemichoreoathetosis as an initial manifestation of moyamoya disease.

OBJECTIVE: To describe hemidystonia and hemichoreoathetosis in an adult patient with moyamoya disease without a previous history of cerebrovascular accident. DESIGN: Case report. SETTING: Tertiary care center. PATIENT: A 22-year-old woman suddenly developed dystonic spasms in her left hand and left foot after a severe emotional stress. The dyskinesia gradually subsided over the next 4 months. Five months after the onset, she suddenly developed choreoathetoid movement in her right hand and right foot. MAIN OUTCOME AND RESULTS: The patient had both somatic and cortical sensory deficits in the right hand and right foot. Magnetic resonance imaging of the brain showed an infarction at the right putamen and lesions involving the right frontal lobe and the left frontotemporoparietal lobe. Magnetic resonance cerebral angiography showed severe stenoses of both internal carotid arteries at the supraclinoid portion and numerous collateral vessels, compatible with moyamoya disease. Single photon emission tomography of the brain showed hypoperfused areas at the right frontal and left frontotemporoparietal lobes. The choreoathetosis of the right limbs improved markedly, along with improvement of sensory deficits. CONCLUSIONS: To our knowledge, this is the first report of an adult patient presenting with hemidystonia and hemichoreoathetosis as the initial manifestations of moyamoya disease. Arch Neurol. 2000;57:1510-1512

Adult↗