Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifteen drug-free patients with early to midstage Huntington's disease were evaluated with quantitative neurological examinations, scales for functional capacity, computed tomographic (CT) scans, and positron emission tomographic (PET) scans of 18F-2-fluoro-2-deoxyglucose (18F-FDG) uptake. All patients had abnormal indices of caudate metabolism on PET scanning, whereas in patients with early disease indices of putamen metabolism and CT measures of caudate atrophy were normal. Indices of caudate metabolism correlated highly with the patients' overall functional capacity (r = 0.906; p less than 0.001) and bradykinesia/rigidity (r = -0.692; p less than 0.01). Indices of putamen metabolism correlated highly with motor functions: chorea (r = -0.841; p less than 0.01), oculomotor abnormalities (r = -0.849; p less than 0.01), and fine motor coordination (r = -0.866; p less than 0.01). Indices of thalamic metabolism correlated positively with dystonia (r = 0.559; p less than 0.05). The data suggest that PET scanning with 18F-FDG is a sensitive measure of brain dysfunction in Huntington's disease and that basal ganglia metabolism is highly correlated with the overall functional capacity of individual patients and with the degree of their motor abnormalities.
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PMID:PET scan investigations of Huntington's disease: cerebral metabolic correlates of neurological features and functional decline. 294 10

We reported a 67-year-old male, who suffered from apraxia and amnesia for 2 years and for muscle rigidity of right extremities for a year. Neurological examination revealed dysarthria, dysphagia, marked dystonia of right arm, hyperreflexia of all limbs and ataxic gait. He also had dementia and many other higher cortical dysfunction mostly due to left hemisphere damage. No impairment of eye movement was disclosed. Brain MRI as well as CT showed the significant brain atrophy in the left parieto-occipital region. A degenerative atrophy was suspected by 123I-IMP-SPECT and 18F-FDG-PET. By FDG-PET, the decrease of cerebral blood flow and glucose metabolism was detected not only affected unilateral cerebral cortex including primary motor area but ipsilateral basal ganglia and thalamus. Although, it is difficult to distinguish clinically CBD from atypical case of Alzheimer's disease, we speculated that in early stage of dementia, significant unilateral hypoperfusion and hypometabolism of basal ganglia and thalamus is characteristic of CBD.
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PMID:[Clinically diagnosed corticobasal degeneration (CBD)]. 833 74

Wilson's disease is an autosomal-recessive inherited disorder that results in predominantly hepatic and neurologic manifestations. Neurologic abnormalities include tremor, ataxia, bradykinesia, rigidity, chorea, and dystonia. We report the clinical, radiologic, and serial FDG PET findings in a 20-year-old woman who presented with an asymmetric upper limb tremor caused by Wilson's disease. Reduced striatal and cerebral cortical glucose metabolism was demonstrated on a FDG PET study performed before the commencement of D-penicillamine therapy. After 6 months of treatment, the patient had shown only minimal clinical improvement, despite an increase in striatal and cerebral cortical glucose metabolism on a repeat FDG PET study. After 14 months of treatment, however, a moderate clinical improvement was noted and there was further increase in glucose metabolism on FDG PET.
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PMID:Pretreatment and posttreatment positron emission tomographic scan imaging in a 20-year-old patient with Wilson's disease. 945 44

The nigrostriatal dopaminergic function and regional glucose metabolism were evaluated in patients suffering from various disorders of basal ganglia by using positron emission tomography with 18F-dopa and 18F-FDG, respectively. The 18F-dopa uptake in the striatum (the caudate head and the putamen) decreased in patients with Parkinson's disease but was relatively unaffected in the caudate. The cerebral glucose metabolism was normal in patients with Parkinson's disease. The 18F-dopa uptake in the striatum also decreased in cases of multiple system atrophy and progressive supranuclear palsy, but there was no difference in the uptake between the caudate and the putamen. The glucose metabolism decreased in the cerebral cortices and the striatum: this finding was also different from those of Parkinson's disease. A normal 18F-dopa uptake with a markedly decreased striatal glucose metabolism was observed in cases of Huntington's disease. The 18F-dopa uptake increased and the glucose metabolism was normal in cases of idiopathic dystonia. Various patterns of 18F-dopa uptake and glucose metabolism were thus observed in the various disorders of basal ganglia. These results suggest that the measurements of the 18F-dopa uptake and glucose metabolism would be useful for evaluating the function of the basal ganglia in various disorders of basal ganglia.
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PMID:[Functional imaging for disorders of basal ganglia]. 1037 93

A 35-year-old female ingested a lethal dose of potassium cyanide in a suicide attempt. She survived following antidote therapy and intensive care. Following artificial coma she presented with an agitative state for several days followed by akinetic mutism, buccofacial and ideomotoric aphasia. Severe rigid-akinetic syndrome, dysarthria, dysphagia and generalized dystonia developed weeks later. MRI revealed lesions in the caudate and lentiform nuclei, precentral cortex, and cerebellum. SPECT by [123-I] 2 beta-carbomethoxy-3-beta-(4-iodophenyl)-Tropan on two occasions revealed progressive loss of dopamine transporter suggestive of nigral neuronal apoptosis. Striatal and frontal hypometabolism and hypoperfusion were found by FDG-PET and HMPAO SPECT.
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PMID:Cyanide-induced akinetic rigid syndrome: clinical, MRI, FDG-PET, beta-CIT and HMPAO SPECT findings. 1573 73

We here report a 45-year-old man with left arm focal dystonia induced by golf. He was a swimming instructor. From 35 years of age, he swung a golf club for 4 hours everyday. At 37 years of age, he noted difficulties in moving left arm when swinging, and developed involuntary movement of left arm toward his back thereafter. His involuntary movement was exacerbated even in several years after stopping both golf and swimming. Neurologically, simultaneous contraction was observed in left triceps and biceps muscles and his left arm dropped when raising arm to front. A 'sensory trick' was also observed. Thus, he was diagnosed as having a rare focal dystonia, and its clinical characteristics and course were basically different from those of 'yips', a focal dystonia that is characterized by anxiety and distal dominant dystonia presenting only on golf. Magnetic resonance imaging (MRI), FDG-positron emission CT (FDG-PET), C11-Raclopride PET and 99mTc-single photon emission CT (SPECT) revealed no abnormality in cerebral cortex and basal ganglias. However, motor evoked potentials (MEPs) were not evoked bilaterally when magnetic stimulation was applied on primary motor cortex. On functional MRI (fMRI), 40 seconds raising left arm task-induced activation in the right primary motor, supplementary motor, and premotor areas was apparently decreased, while left motor areas, the normal side, were reasonably activated. Motor-associated areas are generally overactivated by task in focal dystonia patients whereas excitability in primary motor area is decreased in idiopathic generalized dystonia. Therefore, dystonia of the present case appears to be similar to focal dystonia clinically but may partly have a mechanism similar to idiopathic generalized dystonia as shown in the fMRI studies.
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PMID:[A patient with focal dystonia induced by golf and presenting a decrease in activity of cerebral motor cortex on task]. 1591 99

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare leukoencephalopathy presenting in the infantile period and characterized by diffuse cerebral hypomyelination, and atrophy of the basal ganglia and cerebellum. As patients with H-ABC lack remarkable laboratory findings, the diagnosis is based on brain magnetic resonance imaging findings alone. Only eight cases have been reported in the literature, and thus the natural course and treatment of this disease are not fully understood. We report a 35-month-old boy with H-ABC who had hemidystonia, hypomyelination, and cerebellar ataxia. We diagnosed H-ABC after considering a thorough differential diagnosis, excluding other diseases involving hemidystonia, hypomyelination, and cerebellar ataxia. Furthermore, technetium-99m ethyl cysteinate dimmer-single-photon emission computerized tomography (Tc-ECD-SPECT) and positron emission tomography with fluorodeoxyglucose (18)F (FDG-PET) revealed decreased blood flow and glucose metabolism in the bilateral lenticular nucleus, thalamus, and cerebellum. A peroral levodopa preparation containing carbidopa (levodopa-carbidopa) was effective at ameliorating and stopping the progression of the patient's dystonia (final effective doses: levodopa, 200 mg/day and carbidopa, 20 mg/day). This is the first case report of a Japanese patient with H-ABC and treatment for this disease. Levodopa-carbidopa may be an effective treatment for H-ABC.
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PMID:Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. 1807 42

Malformations of cortical development (MCD) with polymicrogyria and schizencephaly are due to abnormal cortical organization and usually manifest by intractable epilepsy and mental retardation. Epileptical activity is often hard to register and focal dystonia associated with such MCD has previously been described but without any metabolic imaging. We report here a 46-year-old man presenting with late-onset atypical abnormal movements of his left hand associated with right central region MCD. To demonstrate the involvement of an epileptical focus, we performed [(18)F]FDG-PET and fMRI both before and after a single dose of clobazam and diazepam, respectively. Characteristics of the abnormal hand movements, clinical response to the medication, and the result of the [(18)F]FDG-PET and fMRI investigations all favor the diagnosis of epilepsia partialis continua. We conclude that the dystonic movement is part of the partial seizure.
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PMID:Epilepsia partialis continua with dystonic hand movement in a patient with a malformation of cortical development. 1763 19

We have reported a case of autosomal recessive juvenile parkinsonism PARK6 with a 30-year history. She developed tremor of right lower limb at the age of 23. At the age of 28, she received a clinical diagnosis of early-onset Parkinson's disease. She showed clinical improvements by the treatment with trihexyphenidyl, but symptoms showed slow progression over the subsequent years. L-DOPA therapy was introduced at the age of 42, and five years later, L-DOPA-induced dyskinesia developed. Dystonia, diurnal fluctuation and sleep benefit were absent. She carried a homozygous missense mutation in PINK1 gene, and was diagnosed as PARK6. The brain MRI did not show apparent abnormality. 18F-FDG-positron emission topography (PET) displayed normal uptake in the brain, suggesting normal glucose metabolism. PET imaging with a dopamine D2 receptor ligand 11C-raclopride revealed that postsynaptic 11C-raclopride uptake was normal in the bilateral putamen. After the introduction of pramipexisol, she showed clinical improvements. L-DOPA-induced dyskinesia disappeared with the gradual tapering and withdrawal of L-DOPA. In this PARK6 case, postsynaptic D2 receptors of the nigro-striatal dopaminergic neurons were thought to be maintained despite a long disease history.
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PMID:[Case of a 30-year history of PARK6 --findings from functional imaging of the brain]. 1904 50

The development of focal hand dystonia after a traumatic injury of the central or the peripheral nervous system is a rare condition with multifactorial predisposing factors. We report on a patient who developed focal dystonia of the left hand after a cervical whiplash injury. Magnetic resonance imaging did not show cerebral or spinal lesions, whereas a brain F-FDG PET scan revealed hypometabolism of the right primary sensory-motor cortex extending to the inferior and superior parietal lobule. The patient had a history of recurrent migraine attacks. Four months before the whiplash injury, she had transient dystonic posture of the left hand during a hemiplegic migraine attack. Brain magnetic resonance imaging scan and neurovascular investigations were negative. Among the predisposing factors to the development of trauma-induced dystonia, a putative role of neuronal hyperexcitability, shared by migraine and dystonia, is discussed.
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PMID:Posttraumatic dystonia and hemiplegic migraine: different expressions of neuronal hyperexcitability? 2221 13


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