1156790008: Atypical progressive supranuclear palsy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\...
• \Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Ophthalmoplegia\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Neurological finding (finding)\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...
• \Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Ophthalmoplegia\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Genetic disease\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Movement disorder\Paralytic syndrome\Supranuclear paralysis\Supranuclear gaze palsy (disorder)\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.\Atypical progressive supranuclear palsy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4578684012	Atypical progressive supranuclear palsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4578685013	Atypical progressive supranuclear palsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

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