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

We reported a 67-year-old male, who suffered from apraxia and amnesia for 2 years and for muscle rigidity of right extremities for a year. Neurological examination revealed dysarthria, dysphagia, marked dystonia of right arm, hyperreflexia of all limbs and ataxic gait. He also had dementia and many other higher cortical dysfunction mostly due to left hemisphere damage. No impairment of eye movement was disclosed. Brain MRI as well as CT showed the significant brain atrophy in the left parieto-occipital region. A degenerative atrophy was suspected by 123I-IMP-SPECT and 18F-FDG-PET. By FDG-PET, the decrease of cerebral blood flow and glucose metabolism was detected not only affected unilateral cerebral cortex including primary motor area but ipsilateral basal ganglia and thalamus. Although, it is difficult to distinguish clinically CBD from atypical case of Alzheimer's disease, we speculated that in early stage of dementia, significant unilateral hypoperfusion and hypometabolism of basal ganglia and thalamus is characteristic of CBD.
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PMID:[Clinically diagnosed corticobasal degeneration (CBD)]. 833 74

Although a referral bias may have resulted in a higher proportion of atypical cases and consequently an overestimation of dystonia, asymmetric limb dystonia particularly affecting one arm initially was observed in 92% of all our CBD cases. Predominant leg dystonia is uncommon, and head, neck, or axial dystonia is rare. Dystonia is often associated with myoclonus, rigidity, apraxia, alien hand phenomenon, and sensory cortical signs in the affected limb, and there are no significant differences between the occurrence of these or other features, between patients with or without dystonia. There is no effective treatment for this relentless disorder except for temporary relief of dystonia and pain with local botulinum toxin injections. Further clinicopathologic studies are needed to elucidate the anatomical and physiologic substrates of dystonia in this disorder.
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PMID:Dystonia in corticobasal degeneration. 1062 71

Corticobasal degeneration (CBG) is an increasingly recognized neurodegenerative disease with both motor and cognitive dysfunction. The diagnosis is probably underestimated because of the heterogeneity of clinical features, overlap with symptoms, and pathologic findings of other neurodegenerative diseases. The most characteristic initial motor symptoms are akinesia, rigidity, and apraxia. Dystonia and alien limb phenomena are frequently observed. There is often a parkinsonian picture with failure or lack of efficacy of dopaminergic medical therapy. Cognitive decline, prompting the diagnosis of dementia, may be the most common presentation of CBD that is misdiagnosed. Pathology is characterized by an asymmetric frontoparietal neuronal loss and gliosis with ballooned, achromatic cortical neurons, nigral degeneration, and variable subcortical involvement. Neuroimaging and electrophysiologic studies may help with the diagnosis but are not specific. Treatment is primarily symptomatic and minimally effective, especially after the first several years of symptoms. CBD should be considered in the differential diagnosis of patients with motor and cognitive dysfunction presenting with cortical and subcortical features. Further studies to elucidate molecular abnormalities and biological markers associated with CBD are needed to improve clinical diagnosis and treatment of patients with this disorder.
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PMID:Corticobasal degeneration. 1134 25

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

Dystonia is considered one of the classical features of corticobasal degeneration and is reported in up to 83% in clinical, not pathologically confirmed, series. Here, we aimed to establish the frequency and the clinical characteristics of dystonia in CBD by reviewing the literature on 404 pathologically proven cases. Further, we aimed to identify the frequency and characteristics of dystonia in all described phenotypes with CBD pathology. Dystonia was present in only 37.5% of the 296 cases with adequate information. The majority of the cases with dystonia presented with a corticobasal syndrome, and dystonia occurred in the first 2 years from disease onset, affecting the upper limb. In cases with dystonia that presented with a "dementia" phenotype, dystonia tended to appear later in the disease course and to more affect the cervical region and the face. With regard to the distribution of the phenotypes, fifty-four percent of 374 cases presented as corticobasal syndrome, 15% as frontotemporal dementia, and 10.7% as progressive supranuclear palsy. Dystonia and myoclonus were present in about half of all cases with corticobasal syndrome, implying that these features may not be as frequent in corticobasal syndrome as are akinetic-rigid syndrome and apraxia (100% and 86.3%, respectively). Dystonia and myoclonus almost co-occurred in our analysis, suggesting a possible association. In conclusion, despite dystonia being an inclusion criterion in all sets of clinical criteria for corticobasal degeneration, this was present in only one third of the pathologically proven cases presented here. More accurate characterization of dystonia in corticobasal degeneration would be of importance for clinical diagnosis and development of treatment strategies.
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PMID:Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. 2255 31

Corticobasal syndrome (CBS) is a clinical syndrome presenting with progressive asymmetric bradykinesia, rigidity, and dystonia accompanied by cortical signs, such as apraxia, alien limb phenomena, cortical sensory loss, myoclonus, and mirror movements. CBS is associated with different pathological conditions including FTLD-tau (corticobasal degeneration, CBD; progressive supranuclear palsy, PSP: and Pick disease), FTLD-TDP, Alzheimer disease, Creutzfeldt-Jakob disease, and Parkinson disease/dementia with Lewy bodies. Among these, the most common pathology is CBD. In patients with familial and sporadic FTLD, MAPT, GRN and C9orf72 mutations are the three main causes of the disease, even though the C9orf72 mutation is rare in Japan. Patients with MAPT mutations present with FTLD-tau, and patients with GRN and C9orf72 mutations exhibit FTLD-TDP. FTLD is also associated with VCP, CHMP2B, TARDBP and FUS mutations, but each of these account for <1% of familial FTLD cases. In sporadic cases, the H1c haplotype and the rare p.A152T variant of MAPT are known to be associated with FTLD-tau, and the common genetic variant (rs5848) in the 3'-UTR of GRN is associated with FTLD-TDP. A recent genome-wide association study identified TMEM106B as a potential risk-modifying factor for FTLD-TDP, and STX6, EIF2AK3 and MOBP, for PSP. Despite major advances in genetic studies in recent years, the majority of sporadic CBS cases are genetically unsolved. Further studies are needed to unveil the genetic background of CBS. In this review, we discuss the recent advances related to the genetics of CBS, particularly about the genetics of FTLD.
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PMID:[The genetics of corticobasal syndrome]. 2330 Jan

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