Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0917801 (insomnia)
10,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied sleep patterns for three nights in 10 subjects with moderate to severe progressive supranuclear palsy and correlated the findings with disease severity using quantitative measures of motor, cognitive, and eye movement impairment. All subjects had severe insomnia, spending 2 to 6 hours awake per night; the mean time awake per night for the group was more than 4 hours. Sleep latency became shorter and the number of awakenings increased with greater motor impairment, and total sleep time declined as dementia worsened. These findings indicate that in progressive supranuclear palsy insomnia is related to disease severity. Insomnia associated with progressive supranuclear palsy appears to be worse than the insomnia of Parkinson's disease or Alzheimer's disease and may be due to degenerative changes in brain structures responsible for sleep maintenance.
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PMID:Sleep abnormalities in progressive supranuclear palsy. 274 60

Nocturnal sleep was poligraphycally recorded in three male patients aged 54-67, with progressive supranuclear palsy (PSP). All patients suffered from insomnia. In case 1 REM sleep was markedly reduced and spindles were less numerous than in normal subjects. In cases 2 and 3, EEG patterns were not distinguishable from those observed when the patients were awake. Sleep, therefore, was recognized only by constant observation of the patients. As seen in the literature EEG changes during sleep can be correlated to the severity of the clinical picture and the stage of evolution of the disease. EEG patterns of sleep in PSP are similar to those reported in patients with presenile dementia.
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PMID:[Sleep in progressive supranuclear palsy]. 718 69

Creutzfeldt-Jakob disease (CJD), a subacute spongiform encephalopathy, is generally included among the group of human and animal diseases which is transmissible by a non-conventional agent, the prion, whose expression is conditioned by the host's genome. The process leading to neuropathological changes is still unknown. We report the neuropathological findings in 2 cases of the "panencephalopathic" variant of CJD, which is relatively common in Japan, but extremely rare in Europe and North America. When compared with the classical form this variant is characterized by a relatively long clinical course with persistent vegetative state and primary involvement of the white matter presenting in the form of demyelination and gemistocytic gliosis. The selective involvement of certain thalamic nuclei is a particular pathological feature in both our cases. There was practically complete neuronal loss with diffuse gliosis of the anteroventral (AV) and dorsomedial (DM) nuclei, while the neuronal loss in the pulvinar remained moderate: the other nuclei were apparently spared. A similar involvement of the thalamus has been reported in fatal familial insomnia, a recently described prion disease in which these lesions are predominant. A comparable distribution has also been observed in other degenerative neurological diseases such as Steele-Richardson-Olszewski disease, Alzheimer disease, and thalamic dementia (selective thalamic atrophy or with multisystemic degeneration). The AV and DM nuclei, commonly referred to as "limbic thalamus" represent phylogenetically the most recent thalamic structures and would appear to play an important role in the superior functions in man as memory, attention and awareness. In our cases thalamic lesions are selective, bilateral, and symmetric, not explained by Wallerian degeneration. These lesions may be due to the primary pathogenetic properties of the infectious agent. The rapid clinical evolution in a persistent vegetative state could be consequential to precocious and severe disfunction of the limbic thalamus.
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PMID:A panencephalopathic type of Creutzfeldt-Jakob disease with selective lesions of the thalamic nuclei in 2 Swiss patients. 879 45

We describe a 68-year-old man with a 53-month history of progressive dementia and clinical features of a progressive supranuclear palsy-like syndrome and dysautonomia. In the late stage of his illness, the patient also developed generalized myoclonic seizures. There was no family history of similar disorders. Histological examination revealed neuronal loss and gliosis with spongiosis in the cerebral cortex. In addition, more severe neuronal loss and gliosis without spongiosis were observed in the thalamus, especially in the anterior ventral and mediodorsal nuclei, and the inferior olivary nucleus. There was also obvious loss of Purkinje cells. Immunohistochemically, no protease-resistant prion protein (PrPres)-positive structures were demonstrated. However, Western blotting revealed the presence of PrPres in the cerebral cortex. This patient had a wild type of PrP genotype. We initially considered this to be a case of the thalamic form of Creutzfeldt-Jakob disease (CJD) with a long duration. However, it is noteworthy that essentially similar pathology, albeit with less severe cerebral cortical changes, has also been reported in fatal familial insomnia, a newly identified phenotypically different prion disease with a mutation in the PrP gene. On the basis of clinicopathological features, we eventually felt that this patient was more likely to have been a sporadic case of fatal insomnia (FI) of long duration. The present case appears to draw further attention to the possible relationship between CJD and FI.
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PMID:Thalamic form of Creutzfeldt-Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype. 908 66

We report a case of Creutzfeldt-Jakob disease (CJD) which at the beginning of the disease presented clinical syndrome of progressive supranuclear palsy. Rapid intellectual deterioration, supranuclear palsy, postural instability and myoclonic jerks suggested clinical diagnosis of CJD. After five months suffering from the disease patient developed obstructive sleep apnea syndrome (OSAS) confirmed by serial polysomnograms. OSAS is discussed in the context of the localization of histopathological findings and possible involvement of central autonomic structures. The main structures affected by spongiosis and astrogliosis were cortex, thalamus, basal ganglia and midbrain. OSAS was found as another sleep disturbance in CJD apart from insomnia and sleep-wake cycle abnormalities.
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PMID:Obstructive sleep apnea syndrome in patient with Creutzfeldt-Jakob disease. Clinical and morphological report. 959 49

The neuropathology of human sleep remains an ill-defined issue. The data concerning the main structures of human brain areas involved, or supposed to be implicated, in sleep organisation are reviewed. Five levels of organisation can be schematically recognized: (i) the ascending arousal system, (ii) the non REM and REM systems (iii) regulated by hypothalamic areas, (iv) and the biological clock, (v) modulated by a number of "allostatic" influences. These are briefly described, with emphasis on the location of structures involved in humans, and on the recently revised concepts. Current knowledge on the topography of lesions associated with the main sleep disorders in degenerative diseases is recalled, including REM sleep behavior disorders, restless legs syndrome and periodic leg movements, sleep apneas, insomnia, excessive daily sleepiness, secondary narcolepsy and disturbed sleep-wake rhythms. The lesions of sleep related structures observed in early and late stages of four degenerative diseases are then reviewed. Two synucleinopathies (Lewy lesions associated disorders, including Parkinson's disease and Dementia with Lewy bodies, and Multiple System Atrophy) and two tauopathies (Progressive Supranuclear Palsy and Alzheimer's disease) are dealt with. The distribution of lesions usually found in affected patients fit with that expected from the prevalence of different sleep disorders in these diseases. This confirms the current opinion that these disorders depend on the distribution of lesions rather than on their biochemical nature. Further studies might throw insight on the mechanism of normal and pathological sleep in humans, counterpart of the increasing knowledge provided by animal models. Specially designed prospective clinicopathological studies including peculiar attention to sleep are urgently needed.
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PMID:[The neuropathology of sleep in human neurodegenerative diseases]. 1876 Apr 29

Sleep disorders are important manifestations of neurodegenerativediseases and sometimes are clinically evident well before the onset of other neurological manifestations. This review addresses theneuroanatomical basis and the mechanisms of sleep regulation in humans in relation to the neuropathology of entities associated with sleep disturbances in selected diseases, including Alzheimer disease, progressive supranuclear palsy, Lewy body disorders, multiple-system atrophy, and fatal familial insomnia. This includes abnormalities of circadian rhythm, insomnia, narcolepsy, rapid eye movements sleep behavior disorders, and excessive daytime sleepiness.
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PMID:Neuropathology of sleep disorders: a review. 2141 75

Sleep disorders are commonly seen in atypical parkinsonism, with particular disorders occurring more frequently in specific parkinsonian disorders. Multiple systems atrophy (MSA) is a synucleinopathy often associated with nocturnal stridor which is a serious, but treatable condition highly specific to MSA. In addition, this disorder is strongly associated with rapid eye movement (REM) sleep behavior disorder (RBD), which is also seen in dementia with Lewy bodies (DLB). RBD is far less prevalent in progressive supranuclear palsy (PSP), which is a tauopathy. Insomnia and impaired sleep architecture are the most common sleep abnormalities seen in PSP. Corticobasilar degeneration (CBD) is also a tauopathy, but has far fewer sleep complaints associated with it than PSP. In this manuscript we review the spectrum of sleep dysfunction across the atypical parkinsonian disorders, emphasize the importance of evaluating for sleep disorders in patients with parkinsonian symptoms, and point to sleep characteristics that can provide diagnostic clues to the underlying parkinsonian disorder.
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PMID:Sleep Disorders in Atypical Parkinsonism. 2495 81

Sleep disturbance is one of the commonly reported non-motor symptoms in patients with Parkinson's disease (PD) as well as in Parkinson plus disorders such as multiple system atrophy (MSA), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). Although there is a wealth of literature on sleep disturbances in PD, the same is not robust on the Parkinson plus disorders. This article aims to comprehensively review the sleep disturbances in Parkinson plus disorders. The literature review was as per the guidelines of the preferred reporting items for systematic reviews and meta-analyses (PRISMA). We searched PubMed and MEDLINE till December 2019 using a combination of words - "Sleep disturbance" with additional search terms such as: "synucleinopathy", "tauopathy", "multiple system atrophy", "dementia with Lewy bodies", "progressive supranuclear palsy", and "corticobasal syndrome". A wide range of sleep disorders that include insomnia, rapid eye movement (REM) sleep behaviour disorder (RBD), periodic limb movement disorder, excessive daytime sleepiness, and sleep apneas, may complicate the course of the Parkinson plus disorders. Pathophysiology of these sleep disorders remains elusive, thus making targeted pharmacotherapy challenging. We describe the cardinal features and the management options of these sleep disorders in the context of Parkinson plus disorders.
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PMID:Overview of sleep disturbances and their management in Parkinson plus disorders. 3244 10

Background: Atypical Parkinsonian syndromes with prominent frontal lobe involvement can occur in the 4R-taupathies progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Secondary forms of movement disorders may occur in the context of autoimmune encephalitis with antineuronal antibodies, such as anti-glycine receptor (anti-GlyR) antibodies, which are typically associated with Stiff-Person spectrum syndrome, or progressive encephalomyelitis with rigidity and myoclonus. Overlaps between neurodegenerative and immunological mechanisms have been recently suggested in anti-IgLON5 disease. In this case study, the authors describe a patient with a Parkinsonian syndrome with frontal lobe involvement and anti-GlyR antibodies. Case presentation: The patient presented was a 63-year-old female. Her symptoms had begun with insomnia at the age of 60, after which, since the age of 61, increasing personality changes developed, leading to a diagnosis of depression with delusional symptoms. Severe cognitive deficits emerged, along with a left-side accentuated Parkinsonian syndrome with postural instability. The personality changes involved frontal systems. Magnetic resonance imaging (MRI) showed low-grade mesencephalon atrophy. [¹⁸F]fluorodeoxyglucose positron emission tomography (FDG PET) depicted a moderate hypometabolism bilateral frontal and of the midbrain, while [¹²³I]FPCIT single-photon emission computed tomography (SPECT) revealed severely reduced dopamine transporter availability in both striata, indicating pronounced nigrostriatal degeneration. In addition, anti-GlyR antibodies were repeatedly found in the serum of the patient (max. titer of 1:640, reference: <1:20). Therefore, an anti-inflammatory treatment with steroids and azathioprine was administered; this resulted in a decrease of antibody titers (to 1:80) but no detectable clinical improvement. The cerebrospinal fluid (CSF) and electroencephalography diagnostics showed inconspicuous findings, and negative CSF anti-GlyR antibody results. Conclusion: The patient presented here was suffering from a complex Parkinsonian syndrome with frontal lobe involvement. Because of the high anti-GlyR antibody titers, the presence of an autoimmune cause of the disorder was discussed. However, since no typical signs of autoimmune anti-GlyR antibody syndrome (e.g., hyperexcitability, anti-GlyR antibodies in CSF, or other inflammatory CSF changes) were detected, the possibility that the anti-GlyR antibodies might have been an unrelated bystander should be considered. Alternatively, the anti-GlyR antibodies might have developed secondarily to neurodegeneration (most likely a 4-repeat tauopathy, PSP or CBD) without exerting overt clinical effects, as in cases of anti-IgLON5 encephalopathy. In this case, such antibodies might also potentially modify the clinical course of classical movement disorders. Further research on the role of antineuronal antibodies in Parkinsonian syndromes is needed.
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PMID:Parkinsonian Syndrome with Frontal Lobe Involvement and Anti-Glycine Receptor Antibodies. 3258 46


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