| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dystonia |
OMIM:300857 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Dystonia, Loss of ambulatio... |
ORPHA:225154 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis |
OMIM:213200 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Astrocytosis |
OMIM:600795 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Gliosis |
OMIM:613002 |
| Huntington Disease |
|
Bradykinesia, Gliosis, Gait ataxia |
OMIM:143100 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Motor neuron atrophy, Frontotemporal dementia, Inappropriate behavior, Fall... |
ORPHA:412066 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Bradykinesia, Gliosis, Dystonia, I... |
OMIM:607136 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Torticollis, Gait ataxia, Gliosis, Gait disturbance, Gait imbalance |
OMIM:618369 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gait disturbance, Gliosis, Hand tremor |
OMIM:604484 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Astrocytosis |
ORPHA:204 |
| L-2-Hydroxyglutaric Aciduria |
|
Ataxia, Gliosis |
OMIM:236792 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Bradykinesia, Gliosis, Gait disturbance, Shuffling gait |
OMIM:221820 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Difficulty walking, Astrocytosis |
OMIM:611087 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Astrocytosis |
ORPHA:275864 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Astrocytosis, Bradykinesia, Progressive cerebellar ataxia, Gait ataxia |
ORPHA:282166 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Unsteady gait, Gait disturbance, Gliosis |
OMIM:603896 |
| Hemimegalencephaly |
|
Gliosis, Abnormal neuron morphology |
ORPHA:99802 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Progressive cerebellar... |
ORPHA:275872 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis |
OMIM:105550 |
| Progressive Supranuclear Palsy |
|
Tremor, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Gliosis, Dystonia |
ORPHA:683 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Bradykinesia, Gliosis, Gait disturbance, Shuffling gait, Dystonia, Loss of ambula... |
OMIM:168601 |
| Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Astrocytosis, Bradykinesia, Gliosis, Falls, Gait imbalance, Lim... |
OMIM:601104 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gait disturbance, Gliosis |
OMIM:221770 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Cerebellar gliosis, Gliosis, Dystonia, Basal ganglia gliosis |
ORPHA:79243 |
| Leigh Syndrome |
|
Pigmentary retinopathy, Ataxia, Gliosis, Dystonia |
OMIM:256000 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Cryptorchidism, Gait disturbance, Gliosis |
OMIM:300957 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Tremor, Gait disturbance, Gliosis |
ORPHA:457240 |
| Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
| Huntington Disease-Like 1 |
|
Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Gliosis |
ORPHA:157941 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty walking |
ORPHA:280210 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Neurofibrillary tangles, Dementia, Semantic dementia, Memory impairment, Abnor... |
ORPHA:1020 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Machado-Joseph Disease |
|
Dystonia, Ataxia, Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Gliosis, Truncal ataxia |
OMIM:109150 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis |
ORPHA:168486 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Astrocytosis, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, T... |
ORPHA:309854 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Basal ganglia gliosis, Gliosis, Limb dystonia |
OMIM:604377 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Ataxia, Gliosis |
OMIM:612936 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Unsteady gait, Ataxia, Gliosis |
OMIM:256600 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis |
OMIM:615095 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Astrocytosis |
ORPHA:100070 |
| Early-Onset Lafora Body Disease |
|
Mental deterioration, Ataxia, Confusion, Lafora bodies |
ORPHA:324290 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory... |
OMIM:619132 |
| Lissencephaly, X-Linked, 2 |
|
Gliosis, Decreased testicular size |
OMIM:300215 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Vestibular areflexia, Gliosis, Dystonia |
ORPHA:3240 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Gliosis |
OMIM:214150 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Dystonia, Gliosis, Opisthotonus |
OMIM:277470 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Ataxia, Mental deterioration, Depression, Dementia, Gait ... |
OMIM:614298 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Gliosis |
OMIM:169500 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Akinesia, Bradykinesia, Gliosis, Shuffling gait, Dystonia |
ORPHA:411602 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Gait ataxia, Gliosis, Dystonia, Lethargy |
OMIM:618321 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Memory impairment, Frontotemporal dementia, Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
| Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Bradykinesia, Gliosis, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cryptorchidism, Gliosis, Opisthotonus |
OMIM:619847 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis |
OMIM:614498 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Ataxia, Distal sensory impairment, Impaired tactile sensation, Gait... |
OMIM:617225 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Lafora bodies, Progressive cerebellar ataxia, Dementia, Cognitive impairment |
OMIM:616640 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
| Familial Acute Necrotizing Encephalopathy |
|
Gait disturbance, Gliosis |
ORPHA:88619 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Gait disturbance, Gliosis, Dy... |
ORPHA:845 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Neurofibrillary tangles, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis... |
OMIM:610217 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Astrocytosis |
ORPHA:258 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen... |
ORPHA:309271 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis |
OMIM:616239 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Neurofibrillary tangles, Dementia, Mental deterioration, Lewy bodies |
OMIM:616840 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Retractile testis, Ataxia, Gliosis |
OMIM:617193 |
| Cockayne Syndrome Type 3 |
|
Unsteady gait, Astrocytosis, Premature graying of hair, Difficulty walking, Intention tremor |
ORPHA:90324 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Gliosis, Astrocytosis |
OMIM:203700 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Cognitive impairment, Depression |
ORPHA:314632 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Basal ganglia gliosis, Gliosis |
OMIM:614946 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gliosis |
ORPHA:26791 |
| Mannosidosis, Alpha B, Lysosomal |
|
Gliosis, Limb ataxia, Gait ataxia |
OMIM:248500 |
| Leigh Syndrome |
|
Ataxia, Choreoathetosis, Athetosis, Gliosis, Dystonia |
ORPHA:506 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Gliosis |
ORPHA:261652 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Dementia, Ataxia, Cerebral amyloid angiopathy |
OMIM:117300 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Postural tremor, Ataxia, Gliosis, Truncal ataxia |
OMIM:301072 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Athetosis, Pigmentary retinopathy, Gliosis, Dystonia, Lingual dystonia, Action... |
ORPHA:404454 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis |
OMIM:607485 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis, Opisthotonus |
OMIM:252160 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Opisthotonus |
OMIM:252150 |
| Congenital Disorder Of Deglycosylation 1 |
|
Athetosis, Gliosis, Dysmetria, Action tremor |
OMIM:615273 |
| Papillorenal Syndrome |
|
Gliosis |
OMIM:120330 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Inability to walk, Cryptorchidism, Pigmentary retino... |
ORPHA:191 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Gait disturbance, Gliosis, Dystonia |
ORPHA:909 |
| D-Bifunctional Protein Deficiency |
|
Gliosis |
OMIM:261515 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Memory... |
ORPHA:314647 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cryptorchidism, Gliosis, Dystonia |
ORPHA:506358 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Cryptorchidism, Gait disturbance, Gliosis |
ORPHA:268261 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormality of skin pigmentation, Gliosis |
OMIM:300868 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Tremor, Dysmetria, Gliosis, Truncal ataxia |
OMIM:220111 |
| Helsmoortel-Van Der Aa Syndrome |
|
Cryptorchidism, Gliosis |
OMIM:615873 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Gliosis |
OMIM:124000 |
| Diets-Jongmans Syndrome |
|
Cryptorchidism, Gliosis |
OMIM:618846 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Gliosis |
OMIM:617403 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Dementia, Cognitive impairment, Difficult... |
ORPHA:513436 |
| Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Distal sensory impairment, Dementia, Gait disturbance |
OMIM:606693 |
| Kufor-Rakeb Syndrome |
|
Short attention span, Confusion, Dementia, Gait disturbance, Difficulty walking, Mental deteriora... |
ORPHA:306674 |
