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)

Comparison of the properties of blood platelets and serotonergic synaptosomes suggests that the human platelet can serve as an appropriate model for the transport, metabolism, and release of serotonin (5-HT) by CNS serotonergic neurons. The study of blood 5-HT levels and platelet 5-HT pharmacodynamics in patients with a variety of psychiatric and neurologic disorders has generated interesting leads into possible abnormalities of CNS 5-HT neurons in these patients. This article reviews the experimental evidence, which uses the human platelet model to investigate neurotransmitter-related abnormalities in Down syndrome, mental retardation, infantile autism, hyperactivity syndromes (minimal brain dysfunction), schizophrenia, affective disorders, Duchenne muscular dystrophy, Parkinson disease, Huntington chorea, and migraine headaches.
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PMID:The human platelet. A diagnostic and research tool for the study of biogenic amines in psychiatric and neurologic disorders. 14 Jun 32

Of 13 patients with Friedreich's ataxia (Type Ia) and 17 with type IIa recessive ataxias, all were found to have levels of "free erythrocyte protoporphyrin" (FEP) above the normal range. The rise in FEP in Friedreich's ataxia correlated well with the age of the individual and thus appears to be related to the course of the disease. Subjects with olivo-ponto-cerebellar atrophy, Charlevoix syndrome, Duchenne muscular dystrophy, and Parkinson's disease were also found to have significantly elevated FEP, although the distribution overlapped with the normal range. The finding of elevated FEP may indicate a relative heme deficiency in ataxia due to inhibition of ferrochelatase leading to a state of ineffective, persistent erythropoiesis. The possibility of a prostaglandin abnormality being related to this defect and to the pathogenesis of ataxia is considered.
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PMID:Erythrocyte protoporphyrin levels in patients with Friedreich's and other ataxias. 48 15

The occurence of extranuchal dystonia, facial spasm, parkinsonian symptoms (facial masking, bradykinesia, rigidity), tremor and family history of tremor was tabulated in a group of 30 patients with IST. The incidence of extranuchal dystonia increased as severity of IST increased. There was a strong trend for severity of extranuchal dystonia to increase as severity of torticollis increased, which was significant (p less than 0.001). There was a similar trend for severity of facial spasm to increase with increasing severity of torticollis (p less than 0.025). Parkinsonian features were seen in 10 of 30 patients, and in three the diagnosis of Parkinson's disease could be entertained. Tremor was seen in 26 of 30 patients being mild in 12, moderate in 11, and severe in three. A family history of tremor was present in 16 of 28 cases for whom history was available (12 primary, four secondary relations). The results are most consistent with the hypothesis that IST is a variant of DMD with tremor as an integral part of the disease and tremor represents a forme of the disease in family members.
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PMID:Dystonia and tremor in spasmodic torticollis. 94 73

We measured serum alpha 1-antichymotrypsin levels in 38 patients with Alzheimer-type dementia, 89 control subjects, 2 subjects with Down's syndrome, 20 with vascular dementia, 18 with Parkinson's disease, 14 with spinocerebellar degeneration, 15 with cerebrovascular disease without dementia, and 14 with Duchenne muscular dystrophy. Cerebrospinal fluid (CSF) levels of alpha 1-antichymotrypsin were also measured in 15 patients with Alzheimer-type dementia, 26 control subjects, 6 with vascular dementia, 7 with cerebrovascular disorder, and 11 with degenerative disorders. In control subjects, there were no age-related changes or sex differences. Serum and CSF levels were significantly and specifically higher in patients with Alzheimer-type dementia than in other subjects (serum, p less than 0.001; CSF, p less than 0.05). Serum levels of alpha 1-antichymotrypsin were significantly elevated in the early stage of Alzheimer-type dementia, whereas there was no definite correlation between serum levels and the degree of dementia. CSF levels of alpha 1-antichymotrypsin tended to parallel the severity of dementia. Serum levels were not correlated with CSF levels. These data indicate that serum and CSF levels of alpha 1-antichymotrypsin might be independently upregulated in Alzheimer-type dementia. We concluded that the measurement of serum levels of alpha 1-antichymotrypsin could be useful as a screening marker for Alzheimer-type dementia. In addition, CSF levels also could be a useful marker for Alzheimer-type dementia, because they might reflect the state of dementia.
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PMID:Alpha 1-antichymotrypsin as a possible biochemical marker for Alzheimer-type dementia. 214 46

We have evaluated serum alpha 1-antichymotrypsin content in dementia of the Alzheimer type (DAT). The subjects consisted of 26 patients with DAT, 15 with cerebrovascular dementia, 10 with mixed type dementia, 2 with Down syndrome, 17 with Parkinson disease, 14 with spinocerebellar degeneration, 14 with cerebrovascular disease without dementia, 12 with Duchenne muscular dystrophy and 77 normal controls. DAT group showed statistically significant increase of serum alpha 1-antichymotrypsin content, as compared with normal control group (p less than 0.001), mixed type dementia group (p less than 0.05) and other 6 groups (p less than 0.001). However, the levels of both alpha 1-antitrypsin content and inter-alpha-trypsin inhibitor content, included in serine protease inhibitors, were not significantly different between DAT and normal control groups. These findings indicated that measurement of serum alpha 1-antichymotrypsin is useful as the diagnostic marker of DAT.
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PMID:[The significance of measurement of contents of serum serine protease inhibitors in senile dementia of the Alzheimer type]. 260 32

Antifilamin, antivinculin, and antitropomyosin antibody activities were investigated in sera from 43 patients with myasthenia gravis (MG). Antifilamin and antivinculin antibody activities are significantly higher in MG patients compared with normal controls and patients with Duchenne muscular dystrophy (DMD), Parkinson's disease, and spinocerebellar degeneration. The antifilamin antibody was highly positive (100%) in ocular myasthenia. Antitropomyosin antibody activity was similar to that in DMD patients. No correlation was observed between these antibody activities and the antiacetylcholine receptor antibody titers, the duration of the disease, and thymic pathology.
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PMID:Antifilamin, antivinculin, and antitropomyosin antibodies in myasthenia gravis. 311 9

The calpain family is a group of cysteine proteases unique in their dependency on calcium to attain functionally active forms. Calpains are involved in a wide range of cellular calcium-regulated functions, including signal transduction, cell proliferation and differentiation, and apoptosis. Moreover, altered calpain activity has been observed in several human diseases. Specific calpain inhibitors hold promise for the treatment of neuromuscular and neurodegenerative diseases in which calpains have been shown to be upregulated (e.g. Parkinson's disease and Duchenne muscular dystrophy). Conversely, calpain activators could be a useful approach for those diseases where reduced calpain activity has been observed, such as type 2 diabetes or metabolic syndrome.
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PMID:The therapeutic potential of the calpain family: new aspects. 1699 42

RNA is not a simple intermediate between DNA and proteins. RNA is widely transcribed from a variety of genomic regions, and researchers are extensively exploring the functional roles and the regulations of non-coding RNAs and small RNAs including siRNAs and mRNAs. In addition, the human genome project disclosed that we humans carry as few as approximately 22,000 genes. Humans employ tissue-specific and developmental stage-specific alternative splicing to generate a large variety of proteins in a specific cell at a specific developmental stage. Neurological disorders are not the exceptions that can escape from aberrations of the splicing machinery. A large variety of neurological disorders is causally associated with RNA pathologies, but this lecture was mostly focused on aberrant splicings due to pathological alterations of splicing cis- and trans-elements. The neurological diseases covered include congenital myasthenic syndromes, genetic forms of Parkinson's disease, spastic paraplegia, myotonic dystrophy types 1 and 2, sporadic Alzheimer's disease, facioscapulohumeral dystrophy, fragile X-associated tremor/ ataxia syndrome, Rett syndrome, Prader-Willi syndrome, spinocerebellar atrophy type 8, and Waardenburg-Shah syndrome. Potential therapeutic modalities targeting RNA are addressed on congenital myasthenic syndromes, Duchenne muscular dystrophy, spinal muscular atrophy, and familial dysautonomia.
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PMID:[RNA pathologies in neurological disorders]. 1821 Aug 2

Advances in biotechnology necessitate both an understanding of scientific principles and ethical implications to be clinically applicable in medicine. In this regard, therapeutic cloning offers significant potential in regenerative medicine by circumventing immunorejection, and in the cure of genetic disorders when used in conjunction with gene therapy. Therapeutic cloning in the context of cell replacement therapy holds a huge potential for de novo organogenesis and the permanent treatment of Parkinson's disease, Duchenne muscular dystrophy, and diabetes mellitus as shown by in vivo studies. Scientific roadblocks impeding advancement in therapeutic cloning are tumorigenicity, epigenetic reprogramming, mitochondrial heteroplasmy, interspecies pathogen transfer, low oocyte availability. Therapeutic cloning is also often tied to ethical considerations concerning the source, destruction and moral status of IVF embryos based on the argument of potential. Legislative and funding issues are also addressed. Future considerations would include a distinction between therapeutic and reproductive cloning in legislative formulations.
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PMID:Therapeutic cloning: promises and issues. 1852 39

Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development.
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PMID:Disease-specific induced pluripotent stem cells. 1869 44


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