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

Parkinson's disease is associated with classical Parkinsonian features that respond to dopaminergic therapy. Neuropsychiatric sequelae include dementia, major depression, dysthymia, anxiety disorders, sleep disorders, and sexual disorders. Panic attacks are particularly common. With treatment, visual hallucinations, paranoid delusions, mania, or delirium may evolve. Psychosis is a key factor in nursing home placement, and depression is the most significant predictor of quality of life. Clozapine may be the safest treatment for psychotic features, but more research is needed to establish the efficacy of antidepressant treatments. Dementia with Lewy bodies, the second most common dementia in the elderly, may present in association with systematized delusions, depression, or RBD. Early evidence suggests the utility of rivastigmine, donepezil, low-dose olanzapine, and quetiapine in treating DLB. Parkinson-plus syndromes generally lack a good response to dopaminergic treatment and evidence additional features, including dysautonomia, cerebellar and pontine features, eye signs, and other movement disorders. MSA is associated with dysautonomia and RBD. SND (MSA-P) is associated with frontal cognitive impairments, but dementia, psychosis, and mood disorders have not been strikingly apparent unless additional pathological findings are present. In SDS (MSA-A), impotence is almost ubiquitous; urinary incontinence is frequent; depression is occasional, and sleep apnea should be treated to avoid sudden death during sleep. OPCA neuropsychiatric correlates await further definition. Progressive supranuclear palsy neuropsychiatric features include apathy, subcortical dementia, pathological emotionality, mild depression and anxiety, and lack of appreciable response to donepezil. CBD usually is recognized by early frontal dementia with ideomotor apraxia, often in the right upper extremity, attended later by poorly responsive unilateral Parkinsonism, with additional signs including cortical reflex myoclonus, limb dystonia, alien limb, oculomotor apraxia when asked to look horizontally, depression, personality changes, and, occasionally, Kluver-Bucy syndrome. The neuropsychiatry of FTDP-17 involves apraxia, executive impairment, personality changes, hyperorality, and occasional psychosis. Future research in these Parkinsonian disorders should target the characterization of neuropsychiatric sequelae and their treatment.
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PMID:The neuropsychiatry of Parkinson's disease and related disorders. 1555 Feb 93

Camptocormia is defined as an abnormal, severe and involuntary forward flexion of the thoracolumbar spine, which becomes manifest during standing and walking and subsides in the recumbent position. It was originally described as a psychogenic disorder, particularly in soldiers involved in long-term trench service during World War 1. It is becoming increasingly recognized as a prominent and disabling phenomenon during the course of Parkinson's disease (PD). In our experience, there is no clear correlation between camptocormia and levodopa treatment. In a few patients, the abnormal posture improved and in others it was unaltered or even became worse following levodopa administration. In a minority of fluctuating patients, there was a temporary deterioration during the "off" periods, but in most, the severity of camptocormia was unchanged during the "on" and "off" phases. In some patients it is associated with back pains, whereas in others it is painless. It occurs in sporadic PD as well as in postencephalitic and parkin-gene mutation PD and in other parkinsonian syndromes such as MSA. The pathogenesis of this striking clinical sign is unknown. It is definitely not due to a primary vertebral disease causing kyphosis such as ankylosing spondylitis, as the bent spine disappears when the patient lies on his back. The muscles involved may be the abdominal, paravertebral or both. It may by due to a peculiar dystonia or to an extreme form of rigidity. Local myopathic changes were suggested as a possible cause, but these may rather be a secondary phenomenon. Treatment is currently unsatisfactory in most cases. Occasional patients may benefit from intramuscular botulinum toxin injections or from deep brain stimulation.
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PMID:Camptocormia in Parkinson's disease. 1713 Dec 21

The c.G7153A variant in the LRRK2 gene (protein effect: Gly2385Arg) is emerging as an important risk factor for Parkinson's disease (PD) in the Han Chinese and Japanese populations. The prevalence of this variant in other neurodegenerative diseases and movement disorders remains almost completely unexplored. Using MALDI-TOF, we studied the Gly2385Arg variant in a large cohort of patients with primary dystonia (n=335) and a smaller series of patients with clinically diagnosed multiple system atrophy (MSA, n=57). The Gly2385Arg variant was identified in heterozygous state in 14 patients with primary dystonia (4.18%) and in three patients with MSA (5.26%). These frequencies do not differ statistically from that reported previously by us in Taiwanese controls (5%). We conclude that the Gly2385Arg variant is not associated with primary dystonia in Taiwan, supporting the specificity of the association between this variant and PD. Whether the Gly2385Arg variant modifies the risk for MSA deserves further study in larger samples.
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PMID:Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan. 1845 Apr 97

While nocturnal disturbances of Parkinson's disease (PD) are increasingly recognized as being part of a continuum that includes daytime manifestations, there is still little analysis in the medical literature that assesses these complex phenomena in patients with atypical (AP) and vascular parkinsonisms (VP). The objective of our study was to determine the prevalence of these disturbances in patients with AP and VP and to determine the range of nighttime symptoms that occur compared with those in patients with PD. This comparison was done using a semi-structured interview and self-rated questionnaires in 63 AP and VP patients (PSP 24, MSA 24, CBD 5, and VP 10), and 208 PD patients. 61 AP and VP patients (96.8%) and 201 PD patients (96.6%) reported at least one nocturnal symptom with a score of less than 6 on the Modified Parkinson's Disease Sleep Scale (MPDSS). Nocturnal akinesia, as measured on the Nocturnal Akinesia, Dystonia, and Cramp Score, was found to be significantly greater in patients with PSP (p = 0.006), MSA (p = 0.002), and CBD (p = 0.012) than PD patients, but not VP patients (p = 0.428). Like those with PD, patients with AP and VP identified the problem of getting up at night to urinate (MPDSS item 8) as being the most frequent and troublesome nocturnal symptom. MSA and PSP patients reported more frequent (p = 0.001) and troublesome (p < 0.001) urinary incontinence (MPDSS item 9) than PD patients and MSA patients had more severe problems with unexpectedly falling asleep during the day (MPDSS item 15) than PD patients (p = 0.003). In summary, our study determined that nocturnal manifestations are commonly experienced by patients with AP and VP and highlighted specific nocturnal symptoms, which are more prevalent and troublesome in certain AP syndromes. The concept of 24-h control of symptoms should not be limited to only PD and we recommend that all who are involved in the care of AP and VP patients should realize that many nocturnal symptoms are experienced by these patients and a multidisciplinary approach should be utilized to address these problems.
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PMID:Nocturnal manifestations of atypical and vascular parkinsonism: how do they differ from Parkinson's disease? 2466 47