Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Camptocormia is defined as a forced posture with a forward-bent trunk which appears during standing and sitting. It was first described in 1818 by Brodie. In the last 100 years, numerous cases were observed. A psychogenic origin was presumed in most cases. We describe four patients with typical symptoms of camptocormia who present with the clinical and electromyographical criteria of a segmental dystonia. A new classification of camptocormia is proposed including (1) the primary form, a segmental dystonia of the abdominal wall muscles and (2) secondary forms. Among other conditions (psychogenic disorder, neurosis, myopathy, myositis, Parkinson's disease, multiple-system atrophy, thoracolumbar kyphosis, paraneoplastic syndrome), camptocormia is to be considered in essential tremor. A combination of dystonia of the abdominal wall muscles and essential tremor seems possible.
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PMID:[Camptocormia--segmental dystonia. Proposal of a new definition for an old disease]. 1132 Aug 63

For the last three decades, neurology has witnessed remarkable progress in both basic sciences and clinical researches. They include detection of abnormal genes in common degenerative and metabolic diseases, clarification of brain mechanisms of movement and cognition with neurophysiology including unit recording from basal ganglia neurons, neuroimaging and neuropsychology tests. Treatment of intractable chronic diseases has also progressed. Medical, surgical and immunosuppressive treatment for Parkinson's disease, immunological diseases, and for certain metabolic diseases are examples. Neurologists in Japan contributed in research progress in the various fields. However, services in clinical medicine have devoted mainly in neurodegenerative, immunological diseases and myopathy. Promotion of nationwide clinical service for cerebrovascular disease, epilepsy and dementia is required. Research in neurology in the next century should be promoted in various fields with different methodology and targets; genes, molecular mechanisms, cellular activity, neural networks, brain as a whole and a human subject. Particularly integrated function of he brain shall be studied thoroughly not only from biological but also from psychological and social point of view. Leaders in neurology in Japan, particularly professors of neurology have been asked to chair all the activities of education, research and clinics. Merits of this system were reflected in connection of clinical and research data, resulting in establishment of new disease showing unusual combination of symptoms and signs. In future, coordination among specialists in different fields are required for further promotion of clinical researches and training of neurologists. Qualified neurological services in ordinary clinics can be achieved with cooperation of personnels in a team where neurologists are required to play a key role aiming at assurance of best QOL for patients and families.
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PMID:[A challenge to conquest of neurological diseases]. 1146 51

In the first half of the nineteenth century many patients suffering from multiple sclerosis, amyotrophic lateral sclerosis, tabes dorsalis, neuropathy and myopathy were in general described as a paralysis, paralysis agitans, and used 'lessened muscular power' to characterize the disorder. In this article we will review various definitions of Parkinson's disease, which appeared in textbooks since the original description and demonstrate that the number of symptoms as well as the selection of the symptoms in those definitions varied, although the different definitions clearly referred to the same disease.
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PMID:Evolution of concepts and definitions of Parkinson's disease since 1817. 1161 48

Parkinson's disease may be due to primary or secondary oxidative phosphorylation (OXPHOS) defects. In a 76-year-old man with Parkinson's disease since 1992, slightly but recurrently elevated creatine phosphokinase, recurrently elevated blood glucose, thickening of the left ventricular myocardium, bifascicular block and hypacusis were found. Cerebral MRI showed atrophy, periventricular demyelination, multiple, disseminated, supra- and infratentorial lacunas, and haemosiderin deposits in both posterior horns. Muscle biopsy showed typical features of an OXPHOS defect. Whether the association of Parkinson's disease and impaired OXPHOS was causative or coincidental remains unknown. Possibly, the mitochondrial defect acted as an additional risk factor for Parkinson's disease or the OXPHOS defect worsened the preexisting neurological impairments by a cumulative or synergistic mechanism. In conclusion, this case shows that Parkinson's disease may be associated with a mitochondrially or nuclearly encoded OXPHOS defect, manifesting as hypacusis, myopathy, axonal polyneuropathy, cardiomyopathy and recurrent subclinical ischaemic strokes and haemorrhages.
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PMID:Parkinson's disease associated with impaired oxidative phosphorylation. 1176 Aug 9

Camptocormia may be seen in Parkinson's disease. As no changes in paraspinal musculature are found, it is attributed to dystonia or extreme rigidity. However, several cases of parkinsonism and dropped head due to neck extensor myopathy have been reported. We report the first patient with levodopa unresponsive parkinsonism and camptocormia of muscular origin.
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PMID:Myopathic camptocormia in a patient with levodopa unresponsive parkinsonism. 1192 7

The purpose of this study is to verify the features of the power spectrum of postural tremors for neuromuscular disease patients and to classify the postural tremors. The subjects were 88 neuromuscular disease patients (30 Parkinson disease (PD), 25 cerebellar disease (CER), 7 multiple sclerosis (MS), 7 neuropathy (NEU), 10 motor neuron disease (MND), 9 myopathy (MYO)). The control subjects were 12 normal young persons and 10 normal aged persons. Postural tremor was detected by accelerator sensor. Postural tremor was recorded under the two postural conditions: The subjects maintained the index finger without or with a weight load of 50 g in a horizontal position while looking at a visual target in front of the tip of the index finger. The power spectrum was calculated by an auto-regressive model (AR model). The peak frequency and the peak power were evaluated under the two conditions. Two frequency components of 8-12 Hz and 20-25 Hz appeared in the postural tremor of both normal subjects and neuromuscular disease patients. The difference of the postural tremor between the subjects mainly appeared in the 8-12 Hz component during the postural tremor with a weight load. MYO patients belonged to one group (called as group P1) due to lower peak power, CER patients belonged to one group (called as group P2) due to higher peak power, and PD and MS patients belonged to one group (called as group P3) due to lower peak frequency and higher peak power. NER and MND patients belonged to one group (called as group N which meant normal group). These results suggested that the peak frequency and the peak power of the 8-12 Hz component were changed by the conditions of both spinal reflex system and central nervous system. An oscillator within the central nervous system produced the underlying frequency of 8-12 Hz component, while the amplitude of 8-12 Hz component was governed by both spinal reflex system and central nervous system. In conclusion, the classification of postural tremor for neuromuscular disease patients was a useful index to elucidate the mechanism of tremor oscillation and to assist in clinical diagnosis of neuromuscular disease.
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PMID:Evaluation of postural tremor of finger for neuromuscular diseases and its application to the classification. 1205 36

Pronounced forward flexion of the trunk, often termed camptocormia, is a typical symptom of patients with Parkinson's disease. In 4 parkinsonian patients with camptocormia, paraspinal muscles were studied by electromyography (EMG) and axial computerized tomography (CT) or magnetic resonance imaging (MRI) scans and muscle biopsy. EMG of the lumbar and thoracic paravertebral muscles showed abundant fibrillations, positive sharp waves, and bizarre high-frequency discharges. Spinal CT and MRI scans revealed variable degrees of atrophy and fatty replacement of the thoracolumbar paraspinal muscles on both sides. No other signs of neuromuscular disease were found. Biopsy of the paraspinal muscles revealed end-stage myopathy with autophagic vacuoles, chronic inflammatory myopathy, unspecific myopathic changes, or mitochondrial myopathy. In parkinsonian patients with pronounced forward flexion of the trunk, myopathy confined to the erector spinae muscles must be considered.
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PMID:Severe forward flexion of the trunk in Parkinson's disease: focal myopathy of the paraspinal muscles mimicking camptocormia. 1267 47

Mitochondrial DNA (mtDNA) mutations can cause rare forms of dystonia, but the role of mtDNA mutations in other types of dystonia is not well understood. We now report identification by sequencing, restriction endonuclease analyses, and clonal analyses of a heteroplasmic missense A to G base pair substitution at nucleotide position 3796 (A3796G) in the gene encoding the ND1 subunit of mitochondrial complex I in a patient with adult-onset dystonia, spasticity, and core-type myopathy. The mutation converts a highly conserved threonine to an alanine. The same mutation subsequently was identified in 2 of 74 additional unrelated adult-onset dystonia patients. A muscle biopsy was obtained from 1 of these 2 subjects and this revealed abnormalities of electron transport chain (ETC) activities. The mutation was absent in 64 subjects with early onset dystonia, 82 normal controls, and 65 subjects with Parkinson's disease or multiple system atrophy. The A3796G mutation previously has been reported in 3 of 226 subjects from mitochondrial haplogroup H. Each of the 3 subjects in our study harboring the A3796G mutation was also from haplogroup H. However, a subgroup analysis of haplogroup H subjects from our study indicates that the A3796G mutation is significantly overrepresented among haplogroup H adult-onset dystonia subjects compared with haplogroup H controls (P<0.01). This difference remains significant even after excluding the index patient (P=0.04). These data suggest that, among haplogroup H subjects, the presence of the A3796G mutation increases the risk of developing adult-onset dystonia.
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PMID:A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. 1275 9

"A propensity to bend the trunk forward" and "the chin is now almost immovably bent down upon the sternum" were described by James Parkinson in patients with Parkinson's disease (PD). The term "dropped head" was first reported in "Gerlier disease" in Switzerland and 'kubisagari' in Japan and since then also reported in myositis, myopathy, myasthenia gravis, amyotrophic lateral sclerosis, neuropathy, and hypothyroidism. Disproportionate antecollis occurs in about half cases of multiple system atrophy (MSA) and is considered dystonic in nature. Dropped head is considered rare in PD, both in advanced and early stages of PD. However, it is known to progress subacutely over a period of several days. In my experience, dropped head is relatively common in PD. The mechanism of dropped head in PD is either dystonia of flexor neck muscles or weakness of extensor neck muscles. The response of dropped head to various anti-parkinsonian medications is rather inconsistent. Levodopa is reported to induce amelioration in some patients while dopamine agonists can cause deterioration. Muscle afferent block with lidocaine and ethanol is reported to be effective, while the effect of botulinum toxin injection into the affected muscles is limited. The effect of stereotaxic neurosurgery on dropped head is controversial. Early diagnosis and prompt treatment is necessary to prevent muscle damage associated with longterm overstretch of extensor neck muscles.
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PMID:Dropped head in Parkinson's disease. 1713 Dec 24

Camptocormia, also referred to as bent spine, is a gait disorder characterized by hyperflexion of the thoracolumbar spine that develops in recumbent position while walking and that disappears in supine position. Myopathy is one of the frequent causes of camptocormia. A 77-yr-old male patient who was followed up with the diagnosis of rheumatoid arthritis for 2 yrs was admitted with progressive gait deterioration. Hyperflexion of trunk, disappearing in supine position, was detected and diagnosed as camptocormia. He also exhibited the signs of parkinsonism. A paraspinal muscle biopsy showed myopathy with rods in many muscle fibers. Camptocormia in this patient may be attributable to the myopathic weakness of thoracolumbar paraspinal muscles. The normal biceps brachii muscle biopsy refers to the isolated affection of paraspinal muscles in this patient. A camptocormia (bent spine) case of myopathy with nemaline rods associated with Parkinson disease is presented.
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PMID:Camptocormia in a patient with Parkinson disease and a myopathy with nemaline rods. 1730 82


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