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)

We describe and present a videotape of a 57-year-old woman admitted to our Neurological Clinic at 46 years of age due to extrapyramidal manifestations suggesting Parkinson's disease (PD) and with a brain magnetic resonance imaging scan showing multi-infarctual leukoencephalopathy. Various investigations led to the diagnosis of Anderson Fabry's disease (AFD). We discuss the possibility of correlation between the patient's parkinsonism and AFD.
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PMID:Parkinsonism and Anderson Fabry's disease: a case report. 1614 89

An array of movement disorders is associated with ethanol, illicit drugs, and tobacco. Heavy ethanol users experience withdrawal tremor and, less often, withdrawal parkinsonism, chorea, and myoclonus. Asterixis is a feature of hepatic failure. On the other hand, ethanol can ameliorate essential tremor and myoclonus-dystonia. Among opioid drugs, meperidine can precipitate myoclonus. Severe parkinsonism affected users of a synthetic meperidine analog contaminated with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Spongiform leukoencephalopathy, sometimes with chorea and myoclonus, occurred in inhalers of heroin vapor (chasing the dragon). Psychostimulants including cocaine acutely cause stereotypies and dyskinesias. Phencyclidine toxicity causes myoclonus. Tobacco use, on the other hand, protects against Parkinson's disease. Clinicians need to consider substance abuse in patients with unexplained movement disorders.
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PMID:Substance abuse and movement disorders. 2072 28

The authors describe the case of a 61-year-old woman who was admitted to our intensive care unit (ICU) due to impaired consciousness associated with generalised seizures. Her cerebrospinal fluid, electrolytes, acid-base analysis, and common laboratory and toxicology tests were normal. An MRI ruled out the presence of stroke or haemorrhage but showed severe leukoencephalopathy. Parkinson's disease, Creuzfeld-Jacob disease, vascular alterations, cancer, and rheumatological and metabolic diseases were evaluated and excluded. In view of her history of hypothyroidism despite adequate hormonal replacement and clinical behaviour, Hashimoto's encephalopathy was considered. Anti-thyroperoxidase levels were above 3000 IU/ml. The patient received 5 g of methylprednisolone followed by prednisone, but after a favourable initial response, returned to a comatose state. However, after administration of intravenous immunoglobulin (IVIG) 2 g/kg, the patient recovered with resolution of neurological symptoms and was discharged from the ICU 4 days after finishing IVIG treatment.
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PMID:Successful response to intravenous immunoglobulin as rescue therapy in a patient with Hashimoto's encephalopathy. 2280 79

Technologies associated with massively parallel sequencing have evolved rapidly over the last several years, making it possible to cost-effectively sequence the whole human genome and exome in a short period of time. These technologies are expected to bring about a better understanding of genetic components underlying monogenic diseases, as well as diseases inherited in a non-Mendelian fashion. They will eventually cause a paradigm shift in clinical practice, where the diagnosis and decision-making for appropriate therapeutic procedures is based on the "personal genome". In this review, we outline some of our recent efforts in the Medical Genome Center at the University of Tokyo Hospital, including an identification of the causative gene for a Mendelian disease (posterior column ataxia with retinitis pigmentosa), an approach to uncover susceptible genes for a non-Mendelian disease (Parkinson disease), and an application of exome sequencing for the molecular diagnosis of a disease with vast genetic heterogeneity (hereditary diffuse leukoencephalopathy with spheroids). We also discuss the advantages and limitations of these emerging technologies.
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PMID:[Present efforts in the medical genome center at the University of Tokyo Hospital]. 2347 16

In this paper, we present a method for the creation of a library of inertial signals based on Dynamic Time Warping (DTW) for step characterization, with preliminary results in control subjects and patients with neurological diseases. Subjects performed a protocol including a 10 m straight walking, then turn back and walking for additional 10 m. The library is constructed with inertial signals (acceleration and angular velocities recorded in three directions) aligned with the DTW. Templates in the library are obtained for a specific cohort and for the different walking phases of the protocol. They are compared to the signal of a single subject by calculating a Pearson correlation coefficient. The method has been tested on a database of 864 exercises, obtained from 71 healthy controls, 24 patients with Parkinson disease and 48 patients with Radiation Induced Leukoencephalopathy (RIL). Pearson correlation classification reports a precision of about 85% for step detection. For exercise characterization the sensitivity is about 57%, 56% and 82% for Parkinson, RIL and control subjects respectively.
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PMID:Template-DTW based on inertial signals: Preliminary results for step characterization. 2906 Mar 49

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ALSP was previously recognized as two distinct entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity. We describe two illustrative cases of ALSP which presented with neuropsychiatric symptoms, progressive cognitive decline, and motor and gait disturbances. Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, frontotemporal dementia, Alzheimer disease, atypical cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), corticobasal syndrome, and atypical Parkinson disease, suggesting that ALSP may be significantly underdiagnosed. This article presents a systematic review of ALSP in the context of two illustrative cases to help integrate the literature on HDLS and POLD. Consistent use of the term ALSP is suggested for clarity in the literature going forward.
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PMID:Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). 2912 58

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder caused by mutations in the tyrosine kinase domain of the CSF1R gene. ALSP is often misdiagnosed as other diseases due to its rarity and various clinical presentations such as Parkinsonism, pyramidal signs, cognitive impairment and/or psychiatric symptoms. We describe an autopsy case of ALSP with a CSF1R mutation. A 61-year-old woman presented insidious-onset gait difficulty for 12 years since her age of 49, and premature ovarian failure since her age of 35. At initial hospital visit, brain magnetic resonance imaging revealed hydrocephalus. Initially, Parkinson's syndrome was diagnosed, and she was prescribed L-dopa/carbidopa because of spasticity and rigidity of extremities, which had worsened. Subsequently, severe neuropsychiatric symptoms and cognitive impairment developed and radiologically, features of leukoencephalopathy or leukodystrophy were detected. She showed a down-hill course and died, 12 years after initial diagnosis. At autopsy, the brain showed severe symmetric atrophy of bilateral white matter, paper-thin corpus callosum, thin internal capsule, and marked hydrocephalus. Microscopically, diffuse loss of white matter, relatively preserved subcortical U-fibers, and many eosinophilic bulbous neuroaxonal spheroids were noted, but there was no calcification. Pigmented glia with brown cytoplasmic pigmentation were readily found in the white matter, which were positive for Periodic acid-Schiff, p62, and CD163 stains, but almost negative for CD68. Whole-exome and Sanger sequencing revealed a CSF1R mutation (c.2539G>A, p.Glu847Lys) which was reported in prior one ALSP case. This example demonstrates that ALSP could be associated with premature ovarian failure.
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PMID:An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure. 3085 29

TREM2 (triggering receptor expressed on myeloid cells 2) gene variants were reported to increase the risk of Alzheimer's disease (AD) and even other neurodegenerative diseases (frontotemporal dementia (FTD), Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS)), but so far, no definite conclusion has been drawn. The aim of our systematic review and meta-analysis was to investigate the role of TREM2 variants in neurodegenerative diseases. A total of 39 papers (including 26 case-control studies and 13 case reports) were retrieved from PubMed, MEDLINE, EMBASE, and the Cochrane library in this study. A fixed effect model was used to pool results in the analysis. Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven. Rs75932628 also increased risk of PD in North Americans and FTD, but not PD in Europeans or ALS. In the systematic review, 12 biallelic TREM2 mutations (e.g., rs104894002, rs201258663 (T66M), and rs386834144, etc.) have been described to cause Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) in 14 families. And homozygous mutations also have been reported to cause FTD without typical bone phenotypes in 7 families. This study demonstrates that multiple variants in TREM2 have association with the onset of AD, FTD, and PD in North Americans and also play a key role in the phenotypes of the rare familial genetic disorder.
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PMID:TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis. 3088 52

The 2019 novel coronavirus (nCoV) pandemic is rapidly developing across the globe and new information is emerging expeditiously and constantly, particularly in relation to neurological illnesses. Both central and peripheral nervous system involvement has been reported including headache, dizziness, hyposmia/anosmia, taste disturbances, seizures, stroke, alteration of the sensorium, and even acute hemorrhagic necrotizing leukoencephalopathy. Varying degrees of olfactory disturbances may pre-empt the diagnosis of COVID-19. Although no direct effect of 2019 nCoV has been reported yet on Parkinson's disease, there are enormous possible indirect effects and implications. We examine the potential effects and challenges posed by this pandemic to individuals with Parkinson's disease, particularly in the Indian context where telecommunication access or support group access may be lacking for these patients. Additionally, lockdown and social distancing may pose hurdles in the provision of optimum medical therapy, particularly if patients experience motor and non-motor deteriorations due to diverse reasons.
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PMID:The Challenge of Managing Parkinson's Disease Patients during the COVID-19 Pandemic. 3241 50