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Five female patients developed chorea concurrent with, or shortly after a hyperglycemic episode (admission glucose values 500-1,000 mg/dL). In four of these five patients, there was no prior history of diabetes mellitus. The chorea continued despite correction of blood glucose and persisted to the time of last follow-up, 6 months to 5 years later. The chorea developed subacutely over 2 days to 1 month and was generalized in one, unilateral in three, and involved right > left lower extremity in the other; the severity initially reached ballistic proportions in two. Associated clinical features were nil in four of these patients, but cognitive impairment and personality change occurred in one. The histories and laboratory studies identified no predisposing factors other than the hyperglycemia. The chorea was sufficiently troublesome to require administration of neuroleptic medication in all five cases. Four of the five cases had high signal intensity within basal ganglia on T1-weighted magnetic resonance (MR) imaging, as has previously been described; however, this was not seen in one case (who had the most severe clinical condition). Most previously described cases have involved a reversible clinical syndrome, in contrast to our patients. The pathogenic mechanisms remain uncertain., (Copyright 2001 Movement Disorder Society.)

Huntington's disease (HD) is an autosomal dominant disorder characterized by abnormalities of movement, cognition, and emotion and selective atrophy of the striatum and cerebral cortex. While the etiology of HD is known to be a CAG trinucleotide repeat expansion, the pathways by which this mutation causes HD pathology remain unclear. We now report a large pedigree with an autosomal dominant disorder that is clinically similar to HD and that arises from a different CAG expansion mutation. The disorder is characterized by onset in the fourth decade, involuntary movements and abnormalities of voluntary movement, psychiatric symptoms, weight loss, dementia, and a relentless course with death about 20 years after disease onset. Brain magnetic resonance imaging scans and an autopsy revealed marked striatal atrophy and moderate cortical atrophy, with striatal neurodegeneration in a dorsal to ventral gradient and occasional intranuclear inclusions. All tested affected individuals, and no tested unaffecteds, have a CAG trinucleotide repeat expansion of 50 to 60 triplets, as determined by the repeat expansion detection assay. Tests for the HD expansion, for all other known CAG expansion mutations, and for linkage to chromosomes 20p and 4p were negative, indicating that this mutation is novel. Cloning the causative CAG expansion mutation for this new disease, which we have termed Huntington's disease-like 2, may yield valuable insight into the pathogenesis of HD and related disorders.

We describe the unusual case of a 51-year-old woman with spinocerebellar ataxia type 1 (SCA1) who showed choreiform movements in addition to cerebellar ataxia. To date, extrapyramidal signs including involuntary movements have been rarely reported in SCA1. Surface electromyogram in our patient revealed grouped discharges whose duration was longer than that of chorea observed in HD, indicating that the involuntary movements represented choreoathetosis rather than pure chorea. These choreiform movements have not been seen in non-hereditary spinocerebellar ataxia. Therefore, if "sporadic" cases of cerebellar ataxia show such movements, the possibility of genetic origin of the ataxia is high and a surveillance of various forms of hereditary spinocerebellar ataxia including SCA1 is required.

Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an autosomal recessive condition, vitamin E deficiency results in a progressive spinocerebellar syndrome associated with peripheral neuropathy and retinitis pigmentosa. Neuroacanthocytosis is also probably an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysarthria, areflexia, seizures and dementia. McLeod syndrome is an X-linked recessive disorder usually presenting in males as a benign myopathy with areflexia, in association with a particular abnormality of expression of Kell blood group antigens. However, occasionally the neurological features are more severe and indistinguishable from those of neuroacanthocytosis. Recent advances in molecular genetics may assist better understanding of the disease mechanisms and the search for more effective treatments.

A 73 year old man presented with progressive choreic movement and dementia. An antineuronal antibody that recognised a 68 kDa band on a western blot was found in the patient's serum; this antibody immunolabelled neuronal somata in rat brain. Postmortem examination showed a small cell lung cancer and severe neuronal loss with lymphocytic infiltration in the striatum that was more severe in the caudate head. This is thought to be the first pathologically proved case of paraneoplastic chorea with striatal encephalitis.

We have studied the function of inhibitory interneurons within the motor cortex in several movement disorders using a paired-pulse magnetic stimulation technique. Their function was disturbed in patients with dystonia or focal lesions of the basal ganglia. On the other hand, the inhibition was normal in patients with chorea or essential tremor. The inhibitory circuit in the motor cortex must be functionally involved in some movement disorders probably because of changes of the inputs from basal ganglia to motor cortices, but not involved in the others. This difference in the functional involvement of inhibitory interneurons of the motor cortex may reflect different pathogenesis of these movement disorders.

Senile chorea is a well recognised but poorly understood clinical entity characterised by a slowly progressive, generalised chorea in elderly people without mental deterioration or a clear underlying cause. The Hallervorden-Spatz syndrome is typically thought of as a paediatric condition with extrapyramidal features and dementia. However, it has been described in adults usually presenting with parkinsonism plus dementia. An elderly woman with slowly progressive chorea without dementia was found at postmortem to have the pathological features originally described by Hallervorden and Spatz. This association has not previously been reported.

Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, but much less severe microcephaly and a different type of movement disorder with later onset [Tomiwa K et al. (1987). Neuropediatrics 18:231-234]. An extensive literature search did not reveal any other reports of patients with a similar condition. We discuss the differential diagnosis.

We present the MRI and proton spectroscopy findings in a child with clinical diagnosis of Sydenham's chorea. MRI showed high signal in the caudate nuclei and putamina on T2-weighted images. We believe that the spectra showed an abnormality in the number and/or function of neurons, lipids from cellular breakdown (cytolytic effect of antibodies), aminoacids (related to the presence of antibodies in the neostriatum), and sugars (also related to the presence of antibodies). The spectroscopy features correlate well with the histopathology and biochemistry of this rare disorder.

We report a 22-year-old girl presenting with acute onset left sided hemiballism-hemichorea (HH) and non-ketotic hyperglycemia (NKH). Initial brain CT revealed faint hyperdensities, sharply confined to the contralateral nucleus caudatus and putamen. Sequential MRI investigations yielded increasing hypersignal intensities on T1-weighted images and resolving hypodensities on T2-weighted images of the right striatum, leaving small sequelae in the head of the right caudate nucleus. NKH is an unusual cause of HH. The abnormalities seen in neuroimaging are rare, but seem to be quite specific to this syndrome. We give an update on current literature regarding the possible pathophysiological processes underlying this specific clinical entity.

Objective: To describe differing etiologies and possible anatomoclinical correlates of choreic movements in a series of AIDS patients., Methods: We analyzed the clinical records and neuroimaging data of 5 consecutive AIDS patients who developed choreic movements at our center from January, 1994 to December, 1996., Results: There were 2 cases of focal choreic dyskinesias, 1 of right hemichorea, and 2 of generalized chorea. Onset was acute and febrile in 1 case, and subacute in the other 4. In 1 patient the chorea was the AIDS onset symptom; in another choreic movements were the first neurological symptom following AIDS diagnosis; in 2 patients AIDS had a neurological onset other than chorea; and in the fifth patient buccofacial dyskinesias appeared following the development of bacterial encephalitis., Conclusion: Chorea was associated with cerebral toxoplasmosis in 2 patients, progressive multifocal leukoencephalopathy in 1, subacute HIV encephalopathy in another, and was probably iatrogenic in the last. Chorea is not unusual in AIDS, however the causes are variable and careful neuroradiological and clinical evaluation is required to identify them. AIDS-related disease should be considered in young patients presenting with chorea without a family history of movement disorders.

Neuroacanthocytosis (NA) is a rare, degenerative, presumably autosomal-recessive disorder of the nervous system presenting in adulthood and is associated with acanthocytosis of the peripheral blood. The clinical spectrum of NA shares similarities with Huntington's disease (HD), including dyskinetic choreiform movements and degeneration of the caudate nucleus. A woman presented with choreiform movements and was given a presumed diagnosis of HD. Neuroimaging studies were consistent with HD. She lacked the genetic marker for HD, and further evaluation revealed acanthocytosis of the peripheral blood. The case illustrates the similarities and differences in the clinical presentations and neuroimaging studies of these two disease entities, emphasizing the need for a careful clinical evaluation.

Purpose: We report a pedigree of familial paroxysmal kinesigenic choreoathetosis (PKC) in which five of 18 members are affected. The pathophysiologic basis for PKC is still uncertain; reflex epilepsy versus dysfunction of basal ganglia. We examined (a) whether there were ictal discharges during the attacks, and (b) a linkage between PKC and possible DNA markers linked to several familial epileptic or movement disorders., Methods: Video-monitoring EEG was performed in two patients with PKC during attacks elicited by movements of the lower extremities. Blood samples for DNA studies were obtained from 15 members of the pedigree. Fourteen polymorphic markers on chromosomes 1p, 2q, 6p, 10q, and 20q were genotyped, and two-point lod scores were calculated for each marker under a dominant model., Results: No ictal discharges were found during the attacks in both patients. We could not obtain significant linkage of PKC with any marker examined., Conclusions: The video-monitoring EEG findings in our cases strongly suggested that the etiology of PKC should be considered distinct from that of reflex epilepsy. However, the patients in this pedigree had experienced generalized convulsions in their infancies; thus we could not deny the possibility of an epileptogenic basis for PKC. There was no strong evidence for a linkage of the gene for PKC with the candidate regions on 1p, 2q, 6p, 10q, or 20q.

A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a definite diagnosis of McLeod syndrome for his condition. Brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Although immunocytochemical analysis of dystrophin in muscle specimens from our patient revealed normal staining, we found prominent fiber size variability, central nuclei, and connective tissue proliferation as well as necrotic and regenerating fibers, which are as a whole compatible with the myopathology of muscular dystrophy. Moreover, muscle computerized tomography of the lower extremities revealed the 'selectivity pattern' characteristically reported in muscular dystrophies including Duchenne type muscular dystrophy. The muscular symptoms and pathology in McLeod syndrome have been reported to be mild, but the present case clearly shows that the muscular features in this condition may be much more severe than previously thought.

A case of chorea-acanthocytosis (CA) syndrome is described. The presence of acanthocytes has usually been considered an important diagnostic marker of CA. However, it is not specific and other neurological diseases have to be considered. In the present report we rule out other diagnostic possibilities and show that the acanthocytes in the peripheral blood smears can appear even later during the course of the disease.

A case of hemichorea in a patient with poorly controlled diabetes is reported. T1-weighted magnetic resonance imaging (MRI) showed an unusual homogeneous high-intensity area in the corpus striatum. Of interest in the case was the fact that the globus pallidus, which was enhanced with gadolinium at the onset of hemichorea, showed homogeneous high-intensity on a subsequent T1-weighted image. This indicated that blood brain barrier destruction preceded the signal intensity change in the basal ganglia. As far as the authors could determine, this is the first reported case showing such enhancement during the course of diabetic hemichorea.

Eight older women from two different continents, all with nonketotic hyperglycemia, presented with hemiballismus-hemichorea (HB-HC) and high signal intensity in the contralateral striatum on T1-weighted MRI scans. Correction of underlying hyperglycemia and supportive care resulted in resolution within days to weeks. This characteristic clinicoradiologic picture suggests a clinical syndrome with benign outcome.

D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxyglutaric aciduria was initiated to solve this issue. The clinical history, neuroimaging, and biochemical findings of 17 patients were studied. Ten of the patients had a severe early-infantile-onset encephalopathy characterized by epilepsy, hypotonia, cerebral visual failure, and little development. Five of these patients had a cardiomyopathy. In neuroimaging, all patients had a mild ventriculomegaly, often enlarged frontal subarachnoid spaces and subdural effusions, and always signs of delayed cerebral maturation. In all patients who underwent neuroimaging before 6 months, subependymal cysts over the head or corpus of the caudate nucleus were noted. Seven patients had a much milder and variable clinical picture, most often characterized by mental retardation, hypotonia, and macrocephaly, but sometimes no related clinical problems. Neuroimaging findings in 3 patients variably showed delayed cerebral maturation, ventriculomegaly, or subependymal cysts. Biochemical findings included elevations of D-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid in both groups. Cerebrospinal fluid gamma-aminobutyric acid was elevated in almost all patients investigated. Urinary citric acid cycle intermediates were variably elevated. The conclusion of the study is that D-2-hydroxyglutaric aciduria is a distinct neurometabolic disorder with at least two phenotypes.

In this report we present an unusual case of a 45-year-old female patient with systemic lupus erythematosus (SLE) who was hospitalized for mitral valve replacement. In her childhood she presented with mitral stenosis and chorea on which grounds a preliminary diagnosis of rheumatic fever was established. After a quiescent period lasting two decades her disease erupted with mitral stenosis, thromboembolic phenomena, and nephritis. Due to severe malfunctioning of her mitral valve, the patient eventually underwent mitral valve replacement. The antibodies involved in the pathogenesis of our patient's valvular disease were studied by immunohistochemical analysis, applying rabbit polyclonal anti-human IgG and IgM anti-human C3c and anti-idiotypes to a mouse monoclonal naturally occurring polyspecific human monoclonal anti-cardiolipin antibody termed S2.9, and to the 16/6 Id which defines a common Id on anti-DNA antibodies in patients with SLE. Immunoperoxidase staining using an anti-idiotype mAb to anti-cardiolipin antibodies demonstrated the deposition of these anti-bodies in the subendothelial layer of the valve. We believe that anti-phospholipid syndrome (APS) with SLE was the initial and primary disease in this patient. These findings clearly indicate that APS must be considered in the differential diagnosis of rheumatic fever, particularly in young female patients who present with mitral stenosis and chorea.

Selective amygdalo-subicular degeneration was observed in a 25-year-old woman with encephalopathy of unknown etiology. Following flu-like symptoms, the patient presented with confusion and generalized seizures. Subsequently, she developed persistent stupor with absence of the brainstem reflexes, refractory status epilepticus accompanied by hyperthermia, and exhibited choreoathetoid movements. Despite therapies her condition showed no improvement, and she died four months after the onset of disease. Postmortem examinations revealed no evidence suggestive of viral encephalitis, and instead distinctive bilateral lesions were seen in the subiculum (the subiculum proper and the prosubiculum) and the basolateral nuclear group of the amygdala. The hippocampus proper from CA1 to dentate fascia was unremarkable. The selective amygdalo-subicular degeneration, for which pathogenesis remained unknown, was inconsistent with her serious clinical condition. To our knowledge, similar pathology has not been described so far.

Chorea can have many causes, some hereditary and many sporadic in nature. The archetypal hereditary cause of chorea is Huntington's disease (HD). However, this condition often manifests as a mixed movement disorder, and some individuals with the Westphal variant may not display chorea at all. Moreover, since gene-specific testing has become available, we now know that in many cases of HD, particularly those with late onset, a positive family history may be lacking. In addition, dentatorubro-pallidoluysian atrophy (DRPLA), another dominantly inherited CAG repeat disease, can produce a similar clinical picture. In both conditions, the phenotype may vary according to repeat length, and anticipation and excess of paternal inheritance in younger-onset cases with longer repeat lengths are seen. Neuroacanthocytosis is probably genetically heterogenous, and many instances of "benign hereditary chorea" have been caused by other conditions. If it exists at all, this disorder is exceedingly rare. The principal causes of sporadic chorea include drugs, pregnancy, vascular disease, thyrotoxicosis, systemic lupus erythematosus (SLE) and the lupus anticoagulant syndrome, polycythaemia rubra vera, AIDS and both initial and recurrent Sydenham's chorea. The symptomatic treatment of chorea is unsatisfactory and, at least in HD, neuropsychiatric disturbance may be much more important for the family. Potential disease-modifying treatments such as anti-excitotoxins, antioxidants, free radical scavengers and neuronal grafting are now being explored in this condition.

We report a 16-year-old girl with Sydenham's chorea. Choreiform movements involved both sides of her body. MRI 2 months after the onset revealed abnormal increased signal on T2-weighted images and enlargement of the caudate and putamen bilaterally. MRI 5 months later showed resolution of the swelling, but with increased signal on T1-weighted images in the putamen, globus pallidus and the head of the caudate nucleus bilaterally, with slightly increased signal intensity on T2-weighted images.

Borrelia burgdorferi (Bb) can cause a large number of neurological symptoms. Although extrapyramidal disturbances are rare (representing less than 2% of all neurological complications), diffuse choreic dyskinesias have been described during the course of mild encephalitis. The data published in the literature suggest that there are clinical and neurological analogies between neuroborreliosis and multiple sclerosis (MS). The presence of specific anti-Bb antibodies in cerebrospinal fluid is a discriminating factor that allows a diagnosis of neuroborreliosis to be made. We describe the case of a patient with Lyme disease, characterised by widespread chorea and behavioural disturbances. Emphasis is placed on the atypical onset and evolution, the difficulties encountered in formulating a diagnosis, and the uncertainties concerning the pathophysiology and clinical/neuroradiological correlations of the disease.

Purpose: Some cases of hemichorea-hemiballism (HCHB) are associated with a hyperintense putamen on T1-weighted MR images, the cause of which remains unclear. Our purpose was to determine the cause and significance of these MR signal changes., Methods: We analyzed the clinical and neuroimaging findings in 10 patients with HCHB, focusing on locations of the hyperintense lesions on T1-weighted images, comparing them with those on CT scans, and evaluating their changes after years of follow-up. A biopsy was performed in one patient., Results: Seven patients had hyperglycemia and two had cortical infarcts. HCHB recurred in four patients. A hyperintense putamen preceded the occurrence of HCHB in two patients. T1-weighted MR images revealed hyperintense lesions limited to the ventral striatum in six patients. Hyperintense lesions extended to the level of the midbrain in one patient and persisted for as long as 6 years in another patient. T2-weighted MR images revealed slit-shaped cystic lesions in the lateral part of the putamina 2 to 6 years after the onset of symptoms in two patients. A biopsy specimen from the hyperintense putamen in one patient revealed a fragment of gliotic brain tissue with abundant gemistocytes. Proton MR spectroscopy of the specimen showed an increase in lactic acid, acetate, and lipids, and a decrease in N-acetylaspartate and creatine, suggesting the presence of pronounced energy depletion and neuronal dysfunction., Conclusion: Gemistocytes are sufficient to explain the shortening of T1 relaxation time. Our investigation suggests that neurons in the ventral striatum and striatonigral pathway may play a critical role in generating ballism.

Neurologic complications of Hodgkin's disease (HD) include both metastatic and non-metastatic involvement of the nervous system. There are at least five paraneoplastic syndromes associated with HD but chorea has not been described. We report the first choreiform disorder as a paraneoplastic complication of HD and only the second case of paraneoplastic chorea in the literature.

Background and Objective: Chorea-acanthocytosis is a disorder characterized by neuronal degeneration and the presence of acanthocytic erythrocytes on blood smear. The abnormal function and structure of the membrane protein band 3 are considered to be of pathogenetic relevance in determining the erythrocyte defect., Methods: In a clinically evident case of chorea-acanthocytosis, the following parameters were investigated: membrane cholesterol and fatty acid composition, sulphate influx (as a measure of the anion transport activity), membrane protein phosphorylation, membrane casein and tyrosin-kinase activities; moreover, the promoter and all exons of the EPB3 gene were screened for possible mutations by single strand conformational polymorphism (SSCP) study., Results: The sulphate influx, the Ser/Thr phosphorylation level, and the membrane casein-kinase activity were increased in chorea-acanthocytosis compared with normal controls. In the intact vanadate-treated 32P-labelled erythrocytes, Tyr-phosphorylation of the cytoplasmic domain of band 3, as well as the poly(Glu, Tyr) kinase activity in the membranes, were enhanced in the patient's sample. Apparent molecular weight and concentration of band 3 on SDS/PAGE analysis, membrane fatty acid composition and cholesterol/phospholipid molar ratio were normal and the SSCP study of EPB3 exons did not show any abnormal polymorphisms., Interpretations and Conclusions: An abnormal degree of phosphorylation of membrane proteins, in particular of band 2 (beta-subunit) and band 3, may contribute in determining both change of cell shape and increased anion transport in chorea-acanthocytosis.

Neuro-acanthocytosis is a rare neurological disorder characterised by stereotyped chorea, especially of the mouth, areflexia and acanthocytes seen in the peripheral blood. No cases have been described in the literature from South Africa. We report here a case of neuro-acanthocytosis seen in a black woman who presented to Johannesburg Hospital.

We report the case of an 82-years old woman with sporadic acute hemiballism associated with bilateral striatal degeneration of non vascular origin which was most severe in the side contralateral to the hemiballism. The patient's neuropathological lesions resembled those of patients with senile chorea. Although hemiballism has never been described as an isolated manifestation of primary degeneration of the striatum, it may so occur in elderly patients with hemiballism.

We present two cases of hemichorea associated with an arterial ischaemic stroke in the controlateral striatum and we reviewed 28 similar cases in the literature. The pathogenesis of this movement disorder involves the gabaergic and enkephalinergic neurons of the striatal matrice which mainly projects on the external globus pallidus. A destruction of the striatal neurons of the indirect striato-thalamo-cortical ways may reduce their inhibitory out flow on normal inhibited thalamic and cortical structures and then create abnormal choreiform movements. The scarcity of this phenomenon can be explained by: 1) the repartition of the enkephalinergic local circuit neurons which represent but one third of the motor striatal neuronal population; 2) the type of vascularisation which often involves larger territories in the striatum and the globus pallidus or the anterior limb of the internal capsule. These abnormal movements are often transient because of the regulation of accessory striato-nigro-striatal, cortico-striato-nigro-thalamo-cortical and cortico-luysin circuits. More over, because these hypotheses and after having reviewed all such cases in literature, choreic movements to pure thalamic involvement are to be questioned.

Senile chorea has been an ill-defined clinical entity because of the difficulty of differentiating it from Huntington's disease (HD) of late-onset type. The gene specific for HD has recently been found to contain an abnormal (CAG)n trinucleotide repeat which allows it to be differentiated from the other conditions. Our case of late-onset chorea was differentiated from HD by PCR. An 80-year-old man had experienced gradually increasing chorea of his tongue, arms and legs for 4 years, but had not exhibited character changes, mental symptoms or dementia. He died of pneumonia at 84 years. The pathological findings in this case were different from those of HD. The brain weighted 1220 g, and did not show striatal atrophy or neuronal loss. The most remarkable findings were numerous foamy spheroids scattered in the caudate and putamen and proliferation of fibrous astrocytes within the thin myelinated fiber bundles and in the neuropil. Similar findings were reported by Freidman et al. (1990). Although it is debatable whether this finding was responsible for the development of the chorea, this case should contribute to our understanding of senile chorea as a clinicopathological entity.

Nine cases of dystonia and choreoathetosis (six females and three males) have developed in three generations of a single family. There has been one death. Neuropathologic examination disclosed bilateral striatal necrosis. In this family, the neurologic disorder has evolved gradually or in association with a febrile illness. There has been no neurologic recovery. The disease is worse in females, has been transmitted only through females, and shows incomplete penetrance and anticipation. The maternal inheritance pattern suggests either an autosomal dominant trait also affecting male reproductive ability or a defect involving the mitochondrial genome.

A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified. This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene. The mutation was nearly homoplasmic and maternally inherited. This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration. It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.

A young man with systemic lupus (SLE) developed hemichorea 13 years after the onset of his illness. For the first time in the course of his illness he had a positive test for anticardiolipin antibodies (aCL). Magnetic resonance imaging (MRI) of his brain showed lesions of presumed vascular cause in the ipsilateral basal ganglia. The findings support the contention that an immune phenomenon, invisible on proton imaging by MRI, is responsible for the striatal neuronal activation. Chorea, the clinical expression of this activation, was probably blocked on the side previously affected by vascular pathology.

The following is a case report of a patient with Sydenham's chorea who later developed schizophrenia. Autopsy examination of this patient revealed mineral deposits in the basal ganglia. The deposition of minerals, especially iron, within subcortical brain structures has been associated with dopaminergic abnormalities, schizophreniform symptoms, and abnormal movement disorders. The psychosis these patients experience is sometimes resistant to treatment with traditional neuroleptics. A CT or MRI scan may prove useful in screening those patients with Sydenham's chorea that develop psychotic symptoms.

A 74-year-old man was admitted to our hospital with abrupt onset of hemichorea-hemiballism in the left arm and leg. On admission, the blood glucose level was 296 mg/dl, glycosylated hemoglobin Alc was 17.0%, and the serum osmolality was 296 mOsm/l. Urinalysis was negative for ketone bodies, but was strongly positive for glucose. After normalization of the blood glucose level, ballistic movement disappeared, but choreiform movement of the left arm and leg continued for 10 months. Brain CT showed a slight high density of the right putamen, which disappeared on 37th day after the onset. MRI showed high intensity on T1-weighted images and low intensity on T2-weighted images in the right putamen, which disappeared 10 months after the onset. SPECT on the 21th day after the onset showed hyperperfusion in the right putamen. 4 months later, the blood flow slightly reduced in the right putamen. The abnormality in the right putamen was considered to be the cause of his involuntary movements. High intensity in the putamen on T1-weighted MR images in the present case are presumed to have developed following mild ischemia and the reversible deposition of calcium or other material which occurred in association with nonketotic hyperglycemia.

We present a case of an 80-year-old man who developed a seizure disorder at age 66 and was treated with chronic phenytoin. In the last 3 years of his life, he developed multiple neurological deficits, including bilateral chorea, ataxic gait, sensory neuropathy, and progressive dementia. After death from pneumonia, autopsy examination of the patient's brain was most remarkable for a selective loss of neurons from both subthalamic nuclei and Purkinje cell loss in the cerebellum. This pattern of injury is consistent with a toxic process and does not fit previously characterized pathological syndromes known to be associated with movement disorders or dementia or both. Phenytoin has been shown to cause choreiform movements, peripheral neuropathy, and cognitive decline in some patients, but the pathological basis for these changes has not been elucidated. The patient's chorea was very likely the result of neuronal loss in the subthalamic nuclei, but causes for his dementia and neuropathy were not found. The pathological findings may represent either an unusual form of chronic phenytoin toxicity or a previously undescribed primary degenerative brain syndrome.

A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activity on polarography. There was diffuse neuronal loss and gliosis throughout the brain on postmortem examination. The heteroplasmic mutation had a widespread distribution in autopsy tissues.

Occasionally children undergoing cardiac surgery using cardiopulmonary bypass with deep hypothermia and cardiac arrest develop a postoperative syndrome of acute chorea. The authors report the neuropathological findings in two such children surgically treated for congenital heart disease. Examination of the brain showed neuronal loss, reactive astrocytosis and degeneration of myelinated fibers (without frank necrosis) in the globus pallidus, primarily the outer segment, with sparing of other regions commonly susceptible to hypoxic-ischemic necrosis. The localization and relative mildness of the brain damage suggest a susceptibility of the globus pallidus to injury in this setting and implicate disruption of pallidal pathways in the pathogenesis of post-cardiac surgery choreic syndrome.

Herein we describe the molecular and clinical findings in a North American Caucasian family with dentatorubral-pallidoluysian atrophy (DRPLA). These patients all presented with an autosomal dominant neurodegenerative disorder characterized by a variable combination of clinical symptoms including seizures, ataxia, dementia, choreiform movements, mental retardation, and psychiatric disease. Neuroradiologic findings in the index case revealed deep subcortical white matter changes on magnetic resonance imaging. Prior to referral, the family carried a diagnosis of Huntington's disease (HD). Subsequent direct molecular testing for HD failed to identify the HD expansion mutation in affected individuals. Molecular testing for DRPLA, however, demonstrated the presence of the recently characterized DRPLA expansion mutation in all affected individuals. The size of the expansion correlated with the age of onset of clinical symptoms. As DRPLA has rarely been reported in North American and European populations, the molecular confirmation of DRPLA in this family provides support for the hypothesis that DRPLA may not be as geographically restricted as once thought.

We report a patient with long-standing systemic hypertension who developed progressive generalized chorea and dementia beginning at 70 years of age with no family history or other features to suggest Huntington's disease. At postmortem examination, congophilic angiopathy and atherosclerosis causing neostriatal neuronal loss and gliosis were found, in addition to plaques and neurofibrillary tangles in the cortex. This case is a rare demonstration of a vascular pathology causing late onset generalized chorea in association with dementia due to Alzheimer's-type cortical changes.

We report a family with three members affected by a typically X-linked McLeod syndrome. In the proband a very weak positivity for antigens of the Kell group was detected. His sister showed a normal antigenic pattern. We emphasize the prominent neurological picture characterized by a choreic syndrome with atrophy of the caudate nucleus on MRI, psychiatric disturbances, peripheral nerve and muscle biopsy findings indicating slight neuromuscular involvement, and cardiac abnormalities. The differential diagnosis is discussed.

A man, aged 52, is reported to show (1) adult onset, (2) progressive orofacial dyskinesia and choreic movements of the extremities, (3) tongue biting, (4) denervation of the peripheral nerves, (5) acanthocytosis, and (6) increased serum creatine kinase, which are characteristic of chorea-acanthocytosis. The Kell blood group examination on erythrocytes disclosed that the propositus had McLeod phenotype, and his mother and one of his sisters were carriers of the McLeod phenotype. Thus, he was diagnosed as having McLeod syndrome. A criterion of exclusion of McLeod phenotype on erythrocytes should be added to the diagnostic criteria of chorea-acanthocytosis. Moreover, chronic neurogenic changes instead of myogenic changes were electromyographically and histopathologically verified in the muscle.

Three patients with hemiballism-hemichorea caused by non-ketotic hyperglycaemia are presented, two of whom had hyperosmolar non-ketotic hyperglycaemic syndrome. In two of the three patients, the hyperkinesia was the initial presenting symptom of their diabetes mellitus. The hypersensitivity of the postmenopausal dopamine receptor, decreased gamma-aminobutyric acid in the brain in non-ketotic hyperglycaemia, coexisting lacunar infarct in the basal ganglion, and pre-existing metabolic dysfunction in the basal ganglion may all have played a part in the pathogenesis of this movement disorder.