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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Success in treating patients with progressive supranuclear palsy and corticobasal degeneration remains exceedingly low. This finding probably relates to the widespread distribution of the pathological changes that account for the varied and complex spectrum of clinical manifestations. Dopaminergic drugs are regularly used for the parkinsonian features; however, these rarely result in more than modest benefit, and when better or sustained responses are obtained, as sometimes occurs in progressive supranuclear palsy, the clinical features are atypical and diagnosis is often delayed or not made in life. A variety of other treatments have been used in both disorders, sometimes directed at other specific features such as dystonia or myoclonus, and these treatments will be reviewed. Greater success in treating these disorders will require advances in our understanding of their cause(s) or the pathogenetic mechanisms underlying the neurodegenerative processes. The similarities in the molecular pathology of these four-repeat tauopathies suggests that important advances in the management of one will have a definite impact on the treatment of the other.
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PMID:Treatment of progressive supranuclear palsy and corticobasal degeneration. 1609 96

A group of neurodegenerative diseases is outlined that affect cortical and subcortical areas of the brain. These diseases give rise to atypical forms of dementia and, unlike Alzheimer's disease (AD), are often associated with neurological symptoms. Clinical symptoms reflect the localization of the degenerative process rather than the nature of the underlying histopathology. Degeneration of the frontal and anterior temporal lobe presents initially with behavioral alterations, but later in the course, impairment of cognition and activities of daily living develops. Posterior cortical atrophy affects the parietal and occipital association cortices and causes complex visual disturbances. In corticobasal degeneration (CBD) the focus of pathology includes the frontoparietal cortex and several subcortical nuclei, causing symmetrical rigidity, bradykinesia, myoclonus and dystonia. Progressive supranuclear palsy (PSP) involves the frontal, temporal and parietal cortex as well as parts of the brain stem. Clinical features include a hypokinetic rigid syndrome with nuchal dystonia and vertical gaze palsy. Huntington's disease is a prototypical autosomal dominant disorder that affects the extrapyramidal system and causes choreatic movements in combination with personality changes and cognitive deterioration. Amyotrophic lateral sclerosis (ALS) with dementia is a neurodegeneration of the frontotemporal cortex and of the anterior horn of the spinal cord. Behavioral change similar to frontotemporal dementia (FTD) is paralleled or followed by the classic features of motor neuron disease.
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PMID:Uncommon neurodegenerative causes of dementia. 1624 Apr 82

We report the case of a 69-year-old man with a 7-month history of severe progressive supranuclear gaze palsy associated with mild cognitive decline and sleep disturbances, but not parkinsonism. After a period spent consulting a range of different specialists, the appearance of brachial myoclonus prompted his referral to a movement disorders specialist. Duodenum biopsy confirmed the suspicion of neuro-Whipple disease. Antibiotic therapy was started but the delay in the diagnosis proved fatal to this patient. This noteworthy case shows unusual neurological features of a rare but treatable disease, often misdiagnosed as progressive supranuclear palsy.
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PMID:Progressive supranuclear gaze palsy without parkinsonism: a case of neuro-Whipple. 1707 Nov 26

Parkinsonism or dystonia are associated with myoclonus in several extrapyramidal diseases. Although the latter symptom is not always prominent, stimulus-sensitive, distal, or focal reflex myoclonus is frequently observed. This review will consider the clinical and electrophysiological features of myoclonus in Parkinson's disease, multiple system atrophy, corticobasal degeneration, progressive supranuclear palsy, Huntington's disease, dentatorubral-pallidoluysian atrophy, Lewy body dementia, and myoclonus with dystonia. The evidence of a long-latency reflex response, the presence of giant somatosensory evoked potentials, and the demonstration of a back-averaged premyoclonus focal cortical EEG activity often lead to classify myoclonus as a cortical phenomenon. However, a subcortical origin cannot always be ruled out.
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PMID:Myoclonus and extrapyramidal diseases. 1733 76

Parkinsonism or dystonia are associated with myoclonus in several extrapyramidal diseases. Although the latter symptom is not always prominent, stimulus-sensitive, distal, or focal reflex myoclonus is frequently observed. This review will consider the clinical and electrophysiological features of myoclonus in Parkinson's disease, multiple system atrophy, Lewy body dementia, corticobasal degeneration, progressive supranuclear palsy, Huntington's disease, dentatorubral-pallidoluysian atrophy and myoclonus with dystonia. The evidence of a long-latency reflex response, the presence of giant somatosensory evoked potentials, and the demonstration of a back-averaged premyoclonus focal cortical EEG activity often lead to classify myoclonus as a cortical phenomenon. However, a subcortical origin cannot always be ruled out.
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PMID:[Extrapyramidal disorders: interest of myoclonus analysis]. 1803 54

Sporadic Creutzfeldt-Jakob disease (sCJD) does not always present with typical clinical signs, such as myoclonus in association with periodic sharp-wave complexes. We present a 67-year old female patient with initial falls and vertical gaze palsy, suggesting the diagnosis of Progressive Supranuclear Palsy (PSP). EEG and MRI were not contributory. Typical clinical and paraclinical CJD signs were only seen after 17 months. The diagnosis was confirmed by autopsy. - CJD can be a neurodegenerative chameleon. The present case adds to the scare literature of slowly evolving CJD mimicking Parkinsonism related to tauopathies.
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PMID:Creutzfeldt-Jakob disease with slow progression. A mimickry of progressive supranuclear palsy. 1808 8

Atypical parkinsonism is extremely frequent in Guadeloupe and may have an environmental cause. One-half of the patients with this tauopathy have dopa-resistant parkinsonism, tremor, subcortical dementia and abnormal eye movements suggestive of progressive supranuclear palsy (PSP). They also have hallucinations, dysautonomia, which are not characteristic of PSP. Furthermore, the oculomotor abnormalities and the tremor, which is jerky, differ from what is observed in classical PSP patients. We therefore undertook an electrophysiological study to characterize these features in greater detail. Nine representative Guadeloupean PSP-like (Gd-PSP) patients were selected for electro-oculographic recordings of horizontal eye movements [visually guided saccades (VGS), antisaccades (AS) and smooth pursuit], clinical evaluation of vertical saccade velocity and electrophysiological analysis of abnormal limb movements [electromyographic polygraphy, EEG jerk-locked-back-averaging (JLBA) and long-loop C-reflex]. Vertical saccade velocity was reduced in five patients. The velocity of horizontal VGS was normal, although the latencies were increased and horizontal smooth pursuit (HSP) was mostly saccadic. The AS error rate was above 70% in most patients. Myoclonus was detected in 89% of the Gd-PSP patients. It was mainly small amplitude rest and action myoclonus in the upper limbs, characterized by short arrhythmic 24-76 ms bursts and was of cortical origin, as confirmed by JLBA in five patients. In conclusion, Gd-PSP patients have cortical myoclonus and cortical oculomotor impairments, but only minor signs of brainstem oculomotor dysfunction, suggesting that cortical dysfunction predominates over brainstem impairments. This electrophysiological study, added to previous clinical, neuropsychological and neuroradiological studies, has enriched the characterization of Guadeloupean atypical parkinsonism, which thus appears to be a new clinical entity.
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PMID:Predominant cortical dysfunction in Guadeloupean parkinsonism. 1894 Nov 45

Corticobasal degeneration (CBD) is a neurodegenerative disorder characterized clinically by a combination of cortical and basal ganglia signs. Pathologically, it is classified as a tauopathy. The most distinctive clinical feature is its unilateral or markedly asymmetric presentation; among parkinsonian syndromes, with rare exceptions, only Parkinson's disease presents with such asymmetry. The most common presenting cortical features include apraxia (patients often complain of a "useless" limb), aphasia (usually nonfluent), parietal lobe sensory signs (agraphesthesia, extinction, astereognosis), frontal dementia, or myoclonus. Basal ganglia signs include rigidity, akinesia, limb dystonia, and postural instability. The diagnosis is often challenging for three reasons: 1) The full complement of findings are rarely seen at presentation; 2) If CBD is not suspected, subtle but relevant findings (eg, extinction, language impairment, myoclonus, or apraxia) may not be searched for or appreciated; 3) The clinical picture of CBD has substantial overlap with a variety of other parkinsonian and dementing illnesses. The differential diagnosis includes Parkinson's disease, progressive supranuclear palsy, frontotemporal dementia, primary progressive aphasia, and Alzheimer's disease. The clinical diagnosis is not confirmed pathologically in up to half of cases, so the term corticobasal syndrome is often preferred during life, reserving the term corticobasal degeneration for pathologically verified cases. Treatment of CBD is primarily supportive, and most patients die within 10 years of onset. Parkinsonian signs may improve to a modest degree with levodopa, clonazepam can suppress myoclonus, and botulinum toxin can relieve dystonia. Early speech therapy, physical therapy, and occupational therapy, as well as assist devices such as a rolling walker may improve functioning and reduce complications such as aspiration pneumonia and falls. With time, however, most patients lose their independence and mobility. Throughout the course of the illness (particularly when it is advanced), caring for the caregiver is as important as caring for the patient.
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PMID:Corticobasal degeneration. 1936 52

The pathological findings of corticobasal degeneration are associated with several distinct clinical syndromes, and the corticobasal syndrome has been linked with a number of diverse pathologies. We have reviewed all the archival cases in the Queen Square Brain Bank for Neurological Disorders over a 20-year period with either a clinical diagnosis of corticobasal syndrome or pathological diagnosis of corticobasal degeneration in an attempt to identify the main diagnostic pitfalls. Of 19 pathologically confirmed corticobasal degeneration cases, only five had been diagnosed correctly in life (sensitivity=26.3%) and four of these had received an alternative earlier diagnosis. All five of these had a unilateral presentation, clumsy useless limb, limb apraxia and myoclonus, four had cortical sensory impairment and focal limb dystonia and three had an alien limb. Eight cases of corticobasal degeneration had been clinically diagnosed as progressive supranuclear palsy, all of whom had vertical supranuclear palsy and seven had falls within the first 2 years. On the other hand, of 21 cases with a clinical diagnosis of corticobasal syndrome, only five had corticobasal degeneration pathology, giving a positive predictive value of 23.8%; six others had progressive supranuclear palsy pathology, five had Alzheimer's disease and the remaining five had other non-tau pathologies. Corticobasal degeneration can present very commonly with a clinical picture closely resembling classical progressive supranuclear palsy or Richardson's syndrome, and we propose the term corticobasal degeneration-Richardson's syndrome for this subgroup. Cases of corticobasal degeneration-Richardson's syndrome have delayed onset of vertical supranuclear gaze palsy (>3 years after onset of first symptom) and the infrequent occurrence of predominant downgaze abnormalities, both of which can be helpful pointers to their underlying corticobasal degeneration pathology. Fourty-two per cent of corticobasal degeneration cases presented clinically with a progressive supranuclear palsy phenotype and 29% of cases with corticobasal syndrome had underlying progressive supranuclear palsy pathology. In contrast, in the Queen Square Brain Bank archival collection, corticobasal syndrome is a rare clinical presentation of progressive supranuclear palsy occurring in only 6 of the 179 pathologically diagnosed progressive supranuclear palsy cases (3%). Despite these diagnostic difficulties we conclude that corticobasal degeneration is a discrete clinicopathological entity but with a broader clinical spectrum than was originally proposed.
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PMID:Does corticobasal degeneration exist? A clinicopathological re-evaluation. 2116 36

The atypical parkinsonian disorders (APD) embrace a heterogeneous group of movement disorders all characterized by prominent parkinsonism, accompanied by specific additional features such as cerebellar ataxia, early autonomic dysfunction, early dementia, pyramidal tract signs, myoclonus, supranuclear gaze palsy, apraxia which are atypical for idiopathic Parkinson's disease (PD). Beside these features, rapid disease progression and poor or absent response to L-Dopa therapy both raise the suspicion of an APD. Currently, multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and dementia with Lewy bodies (DLB) are referred to as APD. Clinical diagnosis can be difficult in early stages and although the predictive value of the widely established, diagnostic criteria is high at first neurological evaluation sensitivity tends to be poor and may be less than 30%. In this review, we will discuss diagnostic issues in MSA and PSP.
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PMID:Diagnostic criteria for multiple system atrophy and progressive supranuclear palsy. 2081 85


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