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106018006: Hereditary degenerative disease of central nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170437013 Hereditary degenerative disease of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
577254011 Hereditary degenerative disease of central nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6261091000241112 maladie dégénérative héréditaire du SNC (système nerveux central) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6261101000241115 maladie dégénérative héréditaire du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

371 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary degenerative disease of central nervous system Is a Degenerative disease of the central nervous system true Inferred relationship Some
Hereditary degenerative disease of central nervous system Associated morphology dégénérescence false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Associated morphology dégénérescence false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system (body structure) true Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Associated morphology Degenerative abnormality true Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Is a Hereditary disorder of nervous system true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Inherited spastic paresis Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive sclerosing poliodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive sensory ataxia of Charolais Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Arrested hydrocephalus Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Dalmatian leukodystrophy Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Azorean disease Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Parkinsonism due to heredodegenerative disorder (disorder) Due to True Hereditary degenerative disease of central nervous system Inferred relationship Some 2
Chorea due to heredodegenerative disorder Due to True Hereditary degenerative disease of central nervous system Inferred relationship Some 2
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism). Due to True Hereditary degenerative disease of central nervous system Inferred relationship Some 2
Galactosylceramide beta-galactosidase deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant late onset basal ganglia degeneration Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
HSMN IV Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary optic atrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Metachromatic leucodystrophy, adult type Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Leigh's disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary cerebellar degeneration Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary spastic paraplegia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
RNA polymerase III-related leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Frontotemporal dementia with gene located on 3p11 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
GRN-related frontotemporal dementia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Adult onset autosomal dominant leukodystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Odontoleukodystrophy (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature graying of the hair may be additionally observed. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia, characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic leukodystrophy characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized 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. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves. Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral 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 generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia and hyperferritinemia. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Wilson's disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Alexander disease Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Fatal familial insomnia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic isolated inherited retinal disorder characterised by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, colour vision alteration, followed by night blindness and loss of peripheral visual field. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Huntington's chorea Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, a 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 with sometimes foamy aspect. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal recessive familial Parkinson disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. Is a True Hereditary degenerative disease of central nervous system 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 Hereditary degenerative disease of central nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Classical pantothenate kinase associated neurodegeneration Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Atypical pantothenate kinase associated neurodegeneration (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some

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