Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Frontotemporal degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Chronic hepatocerebral degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Frontal lobe degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Cerebral degeneration presenting primarily with dementia (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Corticobasal degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Cerebral degeneration in childhood |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Pigmentary pallidal degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Cerebral degeneration associated with another disorder (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Striatonigral degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Progressive supranuclear ophthalmoplegia |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Kuru |
Is a |
False |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Spongiform encephalopathy |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare genetic neurodegenerative disease characterised by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioural problems. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
White matter disease (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Neuroaxonal leukodystrophy (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Cerebral calcification |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Cerebral atrophy |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Parkinson's disease |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Pituitary degeneration |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Cerebral non-neuropathic heredofamilial amyloidosis angiopathy |
Is a |
False |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
Degeneration of pineal gland (disorder) |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|
A rare parkinsonian syndrome due to neurodegenerative disease characterised by resting tremor (which may initially be asymmetric), rigidity, and bradykinesia. Polyneuropathy with neurogenic electromyography findings is present in the majority of the patients and reported in young age (early twenties) whereas parkinsonian symptoms are visible later in life (between 40 and 70 years of age). Additional clinical symptoms may include anxiety and depression. Mild diffuse muscular atrophy can also be detected in some patients. |
Is a |
True |
Cerebral degeneration (disorder) |
Inferred relationship |
Some |
|