genetic disease of the central nervous system
Jump to navigation
Jump to search
More general terms
More specific terms
- Alport syndrome; hereditary nephropathy
- aminoacylase-1 deficiency
- amyotrophic lateral sclerosis type 17
- amyotrophic lateral sclerosis type 2; juvenile amyotrophic lateral sclerosis
- Angelman syndrome (happy puppet syndrome)
- ataxia-oculomotor apraxia syndrome; ataxia-telangiectasia-like syndrome; cerebellar ataxia early-onset with apraxia & hypoalbuminemia (EOCA-HA, AOA1)
- bilateral frontoparietal polymicrogyria
- bilateral striatal necrosis
- brain small vessel disease with hemorrhage (BSVDH)
- Brown-Marie syndrome
- Brunner syndrome
- CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts & leukoencephalopathy)
- central diabetes insipidus; diabetes insipidus, neurohypophyseal type (CDI)
- cerebellar ataxia, Cayman-type
- cerebral cavernous malformation
- cerebral palsy
- congenital stenosis of aqueduct of Sylvius or X-linked hydrocephalus
- cortical dysplasia-focal epilepsy syndrome (CDFE syndrome)
- disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC)
- dystonia-12 (rapid-onset dystonia parkinsonism)
- epilepsy female-restricted with mental retardation (convulsive disorder & mental retardation)
- episodic ataxia
- Fahr's disease; striopallidodentate calcinosis; idiopathic basal ganglia calcification
- familial Alzheimer's disease (FAD)
- familial amyotrophic lateral sclerosis (ALS)
- familial British dementia (cerebral amyloid angiopathy ITM2B-related type 1, CAA-ITM2B1)
- familial Danish dementia (cerebral amyloid angiopathy ITM2B-related type 2, CAA-ITM2B2, heredopathia ophthalmo-oto-encephalica)
- familial dysautonomia; Riley-Day syndrome; hereditary sensory & autonomic neuropathy III
- familial encephalopathy with neuroserpin inclusion bodies
- familial febrile seizures
- familial hemiplegic migraine
- familial horizontal gaze palsy with progressive scoliosis (HGPPS)
- familial isolated vitamin E deficiency (ataxia, Friedreich-like, with selective vitamin E deficiency)
- familial neurodegenerative disease
- familial Parkinson's disease
- familial progressive subcortical gliosis; familial dementia, Neumann type
- fatal familial insomnia
- focal cortical dysplasia of Taylor balloon cell type (FCDBC)
- frontotemporal dementia 3 (FTD3, chromosome 3-linked FTD)
- frontotemporal dementia with parkinsonism (FTDP-17); multiple system tauopathy with presenile dementia (MSTD)
- generalized epilepsy with febrile seizures (GEFS)
- Gerstmann-Straussler-Scheinker disease
- giant axonal neuropathy
- hemiplegia alterans (alternating hemiplegia)
- hereditary hyperekplexia (Kok disease, startle disease, stiff baby syndrome)
- hereditary spastic paraplegia (familial spastic paralysis)
- holoprosencephaly
- Huntington disease like 1
- hydrocephalus due to stenosis of the aqueduct of Sylvius
- hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, & pallidal degeneration (HARP) syndrome
- Icelandic-type cerebral amyloid angiopathy
- infantile-onset ascending spastic paralysis
- Joubert syndrome
- leukodystrophy
- leukodystrophy hypomyelinating type-4; mitochondrial HSP60 chaperonopathy; mitCHAP-60 disease
- leukoencephalopathy with brainstem & spinal cord involvement & lactate elevation (LBSL)
- leukoencephalopathy, diffuse hereditary, with spheroids
- mental retardation, nonsyndromic
- Moyamoya disease
- myoclonic encephalopathy
- myoclonus epilepsy of Unverricht-Lundborg (EPM1)
- neurodegeneration with brain iron accumulation
- neuroferritinopathy; neurodegeneration with brain iron accumulation 3; basal ganglia disease, adult onset
- Norrie disease
- oculoleptomeningeal type amyloidosis (amyloidosis VII)
- olivopontocerebellar atrophy (OPCA) or degeneration (OPCD); multiple system atrophy, cerebellar subtype
- pallidopontonigral degeneration
- periventricular nodular heterotopia (nodular brain heteropia)
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), presenile dementia with bone cysts; Nasu-Hakola disease
- pontocerebellar hypoplasia type 1; pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia with anterior horn cell disease
- pontocerebellar hypoplasia type 2
- pontocerebellar hypoplasia type 6; fatal infantile encephalopathy with mitochondrial respiratory chain defects
- primary juvenile lateral sclerosis
- progressive lower motor neuron disease (PLMND)
- Rett syndrome
- sensory ataxic neuropathy, dysarthria & ophthalmoparesis (SANDO)
- spastic ataxia of Charlevoix-Saguenay
- spinal muscular atrophy (SMA)
- spinocerebellar ataxia (SCA)
- subcortical band heterotopia