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

Between 1985 and 1990, the authors performed stereotactic posteroventral pallidotomies on 38 patients with Parkinson's disease whose main complaint was hypokinesia. Upon re-examination 2 to 71 months after surgery (mean 28 months), complete or almost complete relief of rigidity and hypokinesia was observed in 92% of the patients. Of the 32 patients who before surgery also suffered from tremor, 26 (81%) had complete or almost complete relief of tremor. The L-dopa-induced dyskinesias and muscle pain had greatly improved or disappeared in most patients, and gait and speech volume also showed remarkable improvement. Complications were observed in seven patients: six had a permanent partial homonymous hemianopsia (one also had transient dysphasia and facial weakness) and one developed transitory hemiparesis 1 week after pallidotomy. The results presented here confirm the 1960 findings of Svennilson, et al., that parkinsonian tremor, rigidity, and hypokinesia can be effectively abolished by posteroventral pallidotomy, an approach developed in 1956 and 1957 by Lars Leksell. The positive effect of posteroventral pallidotomy is believed to be based on the interruption of some striopallidal or subthalamopallidal pathways, which results in disinhibition of medial pallidal activity necessary for movement control.
 ...
PMID:Leksell's posteroventral pallidotomy in the treatment of Parkinson's disease. 150 2

Thirty-six patients with Parkinson's disease and medically refractory tremor underwent stereotactic ventrolateralis thalamotomy at the Mayo Clinic between 1984 and 1989. All patients had been or were being treated with carbidopa/levodopa but with unsatisfactory tremor control. Modern stereotactic techniques, including microelectrode recording, were used to treat 36 patients, of whom 31 (86%) had complete abolition of tremor and three patients (5%) had significant improvement. Tremor recurred in two patients within 3 months of surgery; however, the remaining patients suffered no recurrence of tremor during follow-up periods ranging from 14 to 68 months (mean 33 months). Persistent complications (arm dyspraxia, dysarthria, dysphasia, or abulia) were noted in five patients but were a source of disability in only two. It is concluded that thalamotomy in carefully selected patients is a beneficial operation for the control of medically refractory parkinsonian resting tremor.
 ...
PMID:Stereotactic ventrolateralis thalamotomy for medically refractory tremor in post-levodopa era Parkinson's disease patients. 156 56

Seven patients, aged 65-72 years, are described with dementia and cortical Lewy bodies. In one patient a Parkinsonian syndrome was followed by dementia and motor neuron disease. In the remaining six patients dementia was accompanied by dysphasia, dyspraxia and agnosia. One developed a Parkinsonian syndrome before the dementia, in three cases a Parkinsonian syndrome occurred later, and in two cases not at all. All patients showed Lewy bodies and cell loss in the substantia nigra, locus coeruleus and dorsal vagal nucleus, as in Parkinson's disease. The severity of cell loss in the nucleus basalis varied from mild to severe. Lewy bodies were also present in the parahippocampus and cerebral cortex, but Alzheimer-type pathology was mild or absent, and insufficient for a diagnosis of Alzheimer's disease. Patients with moderate or severe dementia, some with temporal or parietal features, may have cortical Lewy body disease, Alzheimer's disease, or a combination of the two. Cortical Lewy body disease may be associated with dementia in Parkinson's disease more often than realised, but is not necessarily associated with extensive Alzheimer pathology.
 ...
PMID:Cortical Lewy body dementia: clinical features and classification. 246 66

Four patients with severe dementia and a parkinsonian syndrome are described. Dysphasia, dyscalculia, dyspraxia, visual and verbal memory disturbance and psychosis, usually of depressive type, occurred early in the course of the illness. Pathologically they were characterized by the presence of numerous Lewy bodies throughout both the cerebral cortex and brainstem. Three cases also had severe neurofibrillary tangle change or senile plaques in the neocortex, compatible with Alzheimer's disease, but the cortical tangle distribution did not always match that of the Lewy bodies. This disorder may form part of the spectrum of pathology in Parkinson's disease, where it may be one possible cause of dementia.
 ...
PMID:Clinical and pathological features of diffuse cortical Lewy body disease (Lewy body dementia). 282 57

A review of stereotactic medial pallidotomy of the 1950s in five neurosurgical centers is presented. The surgical technique varied from one center to the other. The results of surgery, however, seemed to be quite equal, being positive in 70-90% of the patients. The surgical mortality ranged from 0 to 13%. Behavioral complications were adequately analyzed and reported from one center only and published by three independent neurologists. The side effects included drowsiness (12%), confusion (13.6%), mental deterioration (5%), memory deficit (13.6%), and dysphasia (7.5-24%, the rate depending on the concomitant brain atrophy). Among permanent side effects, 5% of the patients presented with a mild postoperative mental deterioration, whereas 13.6% had a severe memory deficit. In the four other centers, the results and side effects were analyzed only by the surgeons and were more biased. A comparison of the results and complications between Leksell's early medial pallidotomy of 1951-1957 and recent medial pallidotomies of the 1990s from two centers showed that 40 years ago Leksell had at least as good results as, and less serious complications than, two representative neurosurgeons of today. Even when positive clinical results of GPi pallidotomy have recently been reported from several centers, the patients seem to have improved relatively little, the dyskinesias excepted, and the rate of side effects has been quite high. The author is afraid that medial pallidotomy will soon be abandoned as a method of choice in the surgical treatment of Parkinson's disease, as in fact happened 40 years ago. One should look for better surgical alternatives and targets outside of the medial pallidum.
 ...
PMID:Behavioral complications of early pallidotomy. 1075 82

Recent developments in brain research and in the field of music therapy have led to the development of music-based methods specifically aimed at relieving symptoms of Parkinson's disease and other neurologic disorders. Rhythmic auditory stimulation uses external rhythmic auditory cues from song, music or metronome to aid patients improving their walking functioning and has been shown to be effective both within sessions and as a result of training over time. Melodic intonation therapy and related vocal techniques can improve expressive dysphasia and aid rehabilitation of neurologic disorders, particularly Parkinson's disease, stroke and developmental disorders.
 ...
PMID:[Can music therapy for patients with neurological disorders?]. 1560 75

A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cognitive decline. Longitudinal clinical follow-up, EEG, SPECT and CSF biomarker examinations suggested an underlying encephalopathy with cortical involvement. The mutated allele (c.209A) was present within a haplotype different from that shared among mutation carriers in the Italian (Contursi) and the Greek-American Family H kindreds. One unaffected family member carried the mutation haplotype without the c.209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G > A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected, but was not associated with disease state.
 ...
PMID:A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. 1963 74

Common causes of memory loss in older people are mild cognitive impairment, the various types of dementia, and psychiatric illness, mainly depression. Around 10% of patients with mild cognitive impairment progress to dementia each year. Alzheimer's disease accounts for 60-80% of cases. Other common types of dementia are vascular, fronto-temporal, Lewy body, Parkinson's, and mixed type dementia. There is evidence to suggest that dementia pathology is established before the onset of symptoms, and thus mild cognitive impairment can be considered as a predementia stage. NICE guidance suggests examination of: attention, concentration, short- and long-term memory, praxis, language and executive function. Particular attention should be paid to any signs of neglect, state of dress, agitation or poor attention. Dysphasia and difficulty in naming objects is often present. Mood symptoms (including suicidal ideation) may be primary or comorbid. Abnormal thoughts and perceptions should be probed for, as psychotic symptoms are common. Primary care options for cognitive testing include the General Practitioner Assessment of Cognition or the Abbreviated Mental Test Score. Physical examination should include observation of gait, inspection for tremor; examination for rigidity, bradykinesia, frontal release signs, upper motor neurone lesions, pulse and BP. Structural brain imaging can improve diagnostic accuracy, exclude other pathologies and act as a prognostic marker of dementia progression but the overlap in structural changes between the dementias makes imaging alone insufficient for diagnostic purposes. NICE guidelines recommend referral to a memory clinic for patients with mild cognitive impairment, those at high risk of dementia, such as patients with learning disabilities, Parkinson's disease, or patients who have had several strokes.
 ...
PMID:Establishing the cause of memory loss in older people. 2572 16

Creutzfeldt-Jakob disease (CJD) is a prion disease, usually presented with memory loss, ataxia, dementia, myoclonus, involuntary movements and psychiatric problems. D178N-homozygous 129M genotype has been recognized in the diagnosis of fatal familial insomnia (FFI) globally. Here we report a patient presented with progressive left upper limb stiffness, bradykinesia, hypomimia and weight loss (10 kg) initially. She progressed to dementia, dysphasia, dysphonia and be bedridden quickly but did not present insomnia. She was diagnosed with CJD corticobasal subtype carrying a classic D178N-129M mutation of PRNP in FFI. Remarkably, she has a strong family history of neurological degeneration diseases but the other members of this pedigree who do not carry D178N-homozygous 129M mutation in PRNP do not present any CJD or FFI symptoms. We conclude that this patient carrying D178N-homozygous 129M mutation in PRNP should be diagnosed as CJD. Thus, the clinicopathology should be considered as a crucial evidence in diagnosing some cases, but FFI could be evaluated as a differential diagnosis with a unique clinical profile. List of abbreviations AD: Alzheimer disease; ADL: Activities of Daily Living; CBD Cortical basal degeneration; CBS: Corticobasal syndrome; CJD: Creutzfeldt-Jakob disease; DWI: Diffusion-weighted image; EEG: Electroencephalograph, fCJD: familial Creutzfeld-Jakob disease; FFI: Fatal familial insomnia; FLAIR: Fluid-attenuated inversion recovery; MMSE: Mini-mental state examination; MoCA: Montreal Cognitive Assessment; MRI: Magnetic resonance imaging; PD: Parkinson disease; PrP: Prion protein; PSWC: Periodic sharp wave complexes; SWI: Susceptibility-weighted imaging.
 ...
PMID:Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype. 3294 18