Inherited neurodegenerative disorder

Part of

Sub-types of Inherited neurodegenerative disorder

• Frontotemporal dementia 132 trials · 178 incl. sub-types
  4 sub-types

  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 6 trials · 47 incl. sub-types Sub-types →
  • Behavioral variant of frontotemporal dementia 22 trials · 42 incl. sub-types Sub-types →
  • Pick disease 35 trials
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 1 trial · 3 incl. sub-types Sub-types →
• Hereditary motor neuron disease 1 trial · 169 incl. sub-types
  9 sub-types

  • Spinal muscular atrophy 107 trials · 117 incl. sub-types Sub-types →
  • Familial amyotrophic lateral sclerosis 2 trials · 29 incl. sub-types Sub-types →
  • Lateral sclerosis 24 trials Sub-types →
  • Riboflavin transporter deficiency 1 trial · 6 incl. sub-types Sub-types →
  • Distal hereditary motor neuropathy 0 trials · 4 incl. sub-types Sub-types →
  • ALS2-related motor neuron disease 0 trials Sub-types →
  • Motor neuron disease with dementia and ophthalmoplegia 0 trials
  • Neurogenic scapuloperoneal syndrome, Kaeser type 0 trials
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures 0 trials Sub-types →
• Hereditary cerebellar ataxia 0 trials · 116 incl. sub-types
  5 sub-types

  • Autosomal recessive cerebellar ataxia 0 trials · 72 incl. sub-types Sub-types →
  • Autosomal dominant cerebellar ataxia 11 trials · 33 incl. sub-types Sub-types →
  • Ataxia telangiectasia 11 trials Sub-types →
  • X-linked cerebellar ataxia 0 trials Sub-types →
  • Ataxia-pancytopenia syndrome 0 trials
• Huntington disease and related disorders 0 trials · 91 incl. sub-types
  2 sub-types

  • Huntington disease 76 trials Sub-types →
  • Huntington disease-like syndrome 0 trials · 17 incl. sub-types Sub-types →
• Progressive supranuclear palsy 74 trials · 78 incl. sub-types
  4 sub-types

  • Supranuclear palsy, progressive, 1 5 trials
  • Atypical progressive supranuclear palsy syndrome 1 trial · 4 incl. sub-types Sub-types →
  • Supranuclear palsy, progressive, 2 0 trials
  • Supranuclear palsy, progressive, 3 0 trials
• Leukodystrophy 6 trials · 72 incl. sub-types
  65 sub-types

  • Adrenoleukodystrophy 19 trials · 20 incl. sub-types Sub-types →
  • Metachromatic leukodystrophy 20 trials Sub-types →
  • Krabbe disease 15 trials Sub-types →
  • Aicardi-Goutieres syndrome 9 trials Sub-types →
  • Pelizaeus-Merzbacher spectrum disorder 8 trials Sub-types →
  • Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
  • Leukoencephalopathy with vanishing white matter 7 trials Sub-types →
  • Canavan disease 6 trials Sub-types →
  • Cerebrotendinous xanthomatosis 6 trials
  • Leukoencephalopathy, diffuse hereditary, with spheroids 1 6 trials
  • Alexander disease 5 trials Sub-types →
  • Sjogren-Larsson syndrome 3 trials
  • Leukodystrophy, demyelinating, adult-onset 0 trials · 3 incl. sub-types Sub-types →
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3 trials
  • POLR-related leukodystrophy 0 trials · 2 incl. sub-types Sub-types →
  • Pelizaeus-Merzbacher-like disease 1 trial · 2 incl. sub-types Sub-types →
  • Hypomyelinating leukodystrophy 5 2 trials
  • Hypomyelinating leukodystrophy 6 2 trials
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity 2 trials
  • Megalencephalic leukoencephalopathy with subcortical cysts 2 trials Sub-types →
  • Sterol carrier protein 2 deficiency 1 trial
  • AARS1-related leukoencephalopathy 0 trials Sub-types →
  • CADDS 0 trials
  • Adult-onset progressive leukoencephalopathy-early-onset deafness 0 trials
  • Alkaline ceramidase 3 deficiency 0 trials
  • C11orf73-related autosomal recessive hypomyelinating leukodystrophy 0 trials
  • Cystic leukoencephalopathy without megalencephaly 0 trials
  • Dermatoleukodystrophy 0 trials
  • Early-onset calcifying leukoencephalopathy-skeletal dysplasia 0 trials
  • Episodic memory defect leukoencephalopathy 0 trials
  • Hereditary spastic paraplegia 2 0 trials
  • Hypomyelinating leukodystrophy 10 0 trials
  • Hypomyelinating leukodystrophy 12 0 trials
  • Hypomyelinating leukodystrophy 13 0 trials
  • Hypomyelinating leukodystrophy 9 0 trials
  • Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy 0 trials
  • Leukodystrophy, childhood-onset, remitting 0 trials
  • Leukodystrophy, hypomyelinating, 14 0 trials
  • Leukodystrophy, hypomyelinating, 15 0 trials
  • Leukodystrophy, hypomyelinating, 16 0 trials
  • Leukodystrophy, hypomyelinating, 17 0 trials
  • Leukodystrophy, hypomyelinating, 18 0 trials
  • Leukodystrophy, hypomyelinating, 19, transient infantile 0 trials
  • Leukodystrophy, hypomyelinating, 20 0 trials
  • Leukodystrophy, hypomyelinating, 22 0 trials
  • Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 0 trials
  • Leukodystrophy, hypomyelinating, 24 0 trials
  • Leukodystrophy, hypomyelinating, 25 0 trials
  • Leukodystrophy, hypomyelinating, 26, with chondrodysplasia 0 trials
  • Leukodystrophy, hypomyelinating, 28 0 trials
  • Leukoencephalopathy with bilateral anterior temporal lobe cysts 0 trials
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 trials
  • Leukoencephalopathy without lacunae, adult-onset 0 trials
  • Leukoencephalopathy, porphyria-related 0 trials
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 trials
  • Multiple mitochondrial dysfunctions syndrome 4 0 trials
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0 trials
  • Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 0 trials
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 0 trials Sub-types →
  • Progressive cavitating leukoencephalopathy 0 trials
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 trials
  • Ravine syndrome 0 trials
  • Ribose-5-P isomerase deficiency 0 trials
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 trials
  • Unknown leukodystrophy 0 trials
• Familial Alzheimer disease 13 trials · 55 incl. sub-types
  2 sub-types

  • Early-onset autosomal dominant Alzheimer disease 31 trials · 37 incl. sub-types Sub-types →
  • Alzheimer disease 2 11 trials
• Hereditary spastic paraplegia 27 trials · 33 incl. sub-types
  45 sub-types

  • Complex hereditary spastic paraplegia 1 trial · 7 incl. sub-types Sub-types →
  • Hereditary spastic paraplegia 50 3 trials
  • Hereditary spastic paraplegia 3A 2 trials
  • Hereditary spastic paraplegia 4 2 trials
  • Hereditary spastic paraplegia 5A 2 trials
  • Hereditary spastic paraplegia 47 1 trial
  • Hereditary spastic paraplegia 51 1 trial
  • Hereditary spastic paraplegia 52 1 trial
  • Hereditary spastic paraplegia 7 1 trial
  • ADAR-related hereditary spastic paraplegia 0 trials
  • Charcot-Marie-Tooth disease type 5 0 trials
  • IFIH1-related hereditary spastic paraplegia 0 trials
  • RNASEH2B-related hereditary spastic paraplegia 0 trials
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 trials
  • Hereditary spastic paraplegia 10 0 trials
  • Hereditary spastic paraplegia 13 0 trials
  • Hereditary spastic paraplegia 14 0 trials
  • Hereditary spastic paraplegia 16 0 trials
  • Hereditary spastic paraplegia 2 0 trials
  • Hereditary spastic paraplegia 30 0 trials Sub-types →
  • Hereditary spastic paraplegia 31 0 trials
  • Hereditary spastic paraplegia 33 0 trials
  • Hereditary spastic paraplegia 35 0 trials
  • Hereditary spastic paraplegia 48 0 trials
  • Hereditary spastic paraplegia 56 0 trials
  • Hereditary spastic paraplegia 6 0 trials
  • Hereditary spastic paraplegia 77 0 trials
  • Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
  • Mast syndrome 0 trials
  • Pure hereditary spastic paraplegia 0 trials Sub-types →
  • Pure or complex hereditary spastic paraplegia 0 trials
  • Spastic paraplegia 72b, autosomal recessive 0 trials
  • Spastic paraplegia 79A, autosomal dominant, with ataxia 0 trials
  • Spastic paraplegia 80, autosomal dominant 0 trials
  • Spastic paraplegia 81, autosomal recessive 0 trials
  • Spastic paraplegia 82, autosomal recessive 0 trials
  • Spastic paraplegia 83, autosomal recessive 0 trials
  • Spastic paraplegia 87, autosomal recessive 0 trials
  • Spastic paraplegia 88, autosomal dominant 0 trials
  • Spastic paraplegia 89, autosomal recessive 0 trials
  • Spastic paraplegia 90A, autosomal dominant 0 trials
  • Spastic paraplegia 90B, autosomal recessive 0 trials
  • Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 trials
  • Spastic paraplegia 92, autosomal recessive 0 trials
  • Spastic paraplegia 93, autosomal recessive 0 trials
• Hereditary optic atrophy 6 trials · 23 incl. sub-types
  15 sub-types

  • Leber hereditary optic neuropathy 18 trials Sub-types →
  • Autosomal dominant optic atrophy 6 trials Sub-types →
  • Optic atrophy 6 1 trial
  • ACO2-related optic atrophy with or without extraocular features 0 trials Sub-types →
  • Autosomal recessive optic atrophy, OPA7 type 0 trials
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 0 trials
  • Optic atrophy 11 0 trials
  • Optic atrophy 12 0 trials
  • Optic atrophy 13 with retinal and foveal abnormalities 0 trials
  • Optic atrophy 14 0 trials
  • Optic atrophy 15 0 trials
  • Optic atrophy 16 0 trials
  • Optic atrophy 2 0 trials
  • Optic atrophy 4 0 trials
  • Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 0 trials
• Neuronal ceroid lipofuscinosis 6 trials · 23 incl. sub-types
  14 sub-types

  • Neuronal ceroid lipofuscinosis 3 12 trials Sub-types →
  • Neuronal ceroid lipofuscinosis 2 8 trials Sub-types →
  • Juvenile neuronal ceroid lipofuscinosis 6 trials Sub-types →
  • Ceroid lipofuscinosis, neuronal, 6A 4 trials Sub-types →
  • Neuronal ceroid lipofuscinosis 7 2 trials
  • Neuronal ceroid lipofuscinosis 8 1 trial · 2 incl. sub-types Sub-types →
  • Neuronal ceroid lipofuscinosis 1 1 trial Sub-types →
  • Neuronal ceroid lipofuscinosis 10 1 trial Sub-types →
  • Neuronal ceroid lipofuscinosis 5 1 trial Sub-types →
  • Adult neuronal ceroid lipofuscinosis 0 trials Sub-types →
  • Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 trials
  • Congenital neuronal ceroid lipofuscinosis 0 trials
  • Infantile neuronal ceroid lipofuscinosis 0 trials Sub-types →
  • Progressive myoclonic epilepsy type 3 0 trials
• Corticobasal syndrome 20 trials
• Kennedy disease 19 trials
• GM2 gangliosidosis 14 trials · 19 incl. sub-types
  3 sub-types

  • Sandhoff disease 13 trials Sub-types →
  • Tay-Sachs disease 13 trials Sub-types →
  • Tay-Sachs disease AB variant 0 trials
• Frontotemporal dementia with motor neuron disease 14 trials · 19 incl. sub-types
  7 sub-types

  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 5 trials
  • Amyotrophic lateral sclerosis type 10 3 trials
  • Amyotrophic lateral sclerosis type 6 1 trial
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0 trials
• Posterior cortical atrophy 12 trials
• Chediak-Higashi syndrome 9 trials
• Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types
  14 sub-types

  • Neurodegeneration with brain iron accumulation 5 4 trials
  • Pantothenate kinase-associated neurodegeneration 4 trials Sub-types →
  • PLA2G6-associated neurodegeneration 1 trial Sub-types →
  • Kufor-Rakeb syndrome 0 trials Sub-types →
  • Woodhouse-Sakati syndrome 0 trials
  • Aceruloplasminemia 0 trials
  • Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 0 trials
  • Fatty acid hydroxylase-associated neurodegeneration 0 trials
  • Neurodegeneration with brain iron accumulation 4 0 trials
  • Neurodegeneration with brain iron accumulation 6 0 trials
  • Neurodegeneration with brain iron accumulation 7 0 trials
  • Neurodegeneration with brain iron accumulation 8 0 trials
  • Neurodegeneration with brain iron accumulation 9 0 trials
  • Neuroferritinopathy 0 trials
• Inherited Creutzfeldt-Jakob disease 5 trials
• APP-related brain and vascular amyloidosis 0 trials · 5 incl. sub-types
  2 sub-types

  • Alzheimer disease type 1 4 trials
  • Cerebral amyloid angiopathy, APP-related 0 trials · 1 incl. sub-types Sub-types →
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 0 trials · 5 incl. sub-types
  8 sub-types

  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 5 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 0 trials
• TUBB4A-related neurologic disorder 4 trials
  1 sub-type

  • Hypomyelinating leukodystrophy 6 2 trials
• Fatal familial insomnia 4 trials
• Mitochondrial DNA depletion syndrome 4a 3 trials
• Alzheimer disease 17 1 trial
• Alzheimer disease 18 1 trial
• Ataxia-telangiectasia-like disorder 1 trial
  3 sub-types

  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 trials
  • Ataxia-telangiectasia-like disorder 1 0 trials
  • Ataxia-telangiectasia-like disorder 2 0 trials
• Developmental and epileptic encephalopathy, 35 1 trial
• Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 trial
• Neurodegenerative syndrome due to cerebral folate transport deficiency 1 trial
• Neuronal intranuclear inclusion disease 1 trial
• Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 trial
• DCTN1-related neurodegeneration 0 trials
  2 sub-types

  • Perry syndrome 0 trials
  • Neuronopathy, distal hereditary motor, type 7B 0 trials
• Huntington disease-like 1 0 trials
• Huntington disease-like 2 0 trials
• ITM2B amyloidosis 0 trials
  2 sub-types

  • ABri amyloidosis 0 trials
  • ADan amyloidosis 0 trials
• PEHO syndrome 0 trials
• PRKAR1B-related neurodegenerative dementia with intermediate filaments 0 trials
• X-linked neurodegenerative syndrome, Bertini type 0 trials
• X-linked neurodegenerative syndrome, Hamel type 0 trials
• Agenesis of the corpus callosum with peripheral neuropathy 0 trials
• Amyotrophic lateral sclerosis-parkinsonism-dementia complex 0 trials
• Angioid streaks of choroid 0 trials
• Attenuated Chédiak-Higashi syndrome 0 trials
• Autosomal recessive cerebral atrophy 0 trials
• Boylan dew greco syndrome 0 trials
• Cerebellar ataxia-hypogonadism syndrome 0 trials
  1 sub-type

  • Cerebellar ataxia and hypergonadotropic hypogonadism 0 trials
• Cerebral sclerosis similar to Pelizaeus-Merzbacher disease 0 trials
• Combined oxidative phosphorylation deficiency 29 0 trials
• Deafness dystonia syndrome 0 trials
• Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 trials
• Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
• Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy 0 trials
• Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
• Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 0 trials
• Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 0 trials
  2 sub-types

  • NAD(P)HX dehydratase deficiency 0 trials
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 trials
• Facial onset sensory and motor neuronopathy 0 trials
• Fatal post-viral neurodegenerative disorder 0 trials
• Ferro-cerebro-cutaneous syndrome 0 trials
• Hereditary sensory neuropathy-deafness-dementia syndrome 0 trials
• Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials
  3 sub-types

  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 trials
• Infantile cerebellar-retinal degeneration 0 trials
• Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 0 trials
• Microphthalmia-brain atrophy syndrome 0 trials
• Myoclonic cerebellar dyssynergia 0 trials
• Neurodegeneration and seizures due to copper transport defect 0 trials
• Neurodegeneration with ataxia and late-onset optic atrophy 0 trials
• Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 trials
• Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 0 trials
• Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 0 trials
• Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 0 trials
• Neurodegeneration, childhood-onset, with cerebellar atrophy 0 trials
• Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 trials
• Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 0 trials
• Neurodegeneration, childhood-onset, with progressive microcephaly 0 trials
• Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0 trials
• Neurodegeneration, infantile-onset, biotin-responsive 0 trials
• Neurodegenerative disorder with cerebellar and caudate atrophy 0 trials
• Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment 0 trials
• Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 trials
• Radiation sensitivity/chromosome instability syndrome, autosomal dominant 0 trials
• Severe neurodegenerative syndrome with lipodystrophy 0 trials
• Striatonigral degeneration 0 trials
  3 sub-types

  • Familial infantile bilateral striatal necrosis 0 trials Sub-types →
  • Striatal degeneration, autosomal dominant 0 trials Sub-types →
  • Striatonigral degeneration, childhood-onset 0 trials