Ataxia with Myoclonic Epilepsy and Presenile Dementia
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Auditory Perceptual Disorders +
basal ganglia calcification +
basal ganglia cerebrovascular disease +
Benign Familial Chorea
biotin-responsive basal ganglia disease
Brain-Lung-Thyroid Syndrome
Canavan disease
Cerebral Amyloidosis with Spongiform Encephalopathy +
Cerebrocortical Degeneration of Infancy
childhood spinal muscular atrophy +
Childhood-Onset Chorea with Psychomotor Retardation
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
CHOPS Syndrome
chorea gravidarum
Choreoathetosis, Familial Inverted
Cockayne syndrome +
Cognitive Dysfunction +
Cognitive Impairment with or Without Cerebellar Ataxia
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
Consciousness Disorders +
Creutzfeldt-Jakob disease +
deafness-dystonia-optic neuronopathy syndrome
dementia +
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques
Diffuse Neurofibrillary Tangles with Calcification
Dystonia Musculorum Deformans +
Familial Amyloid Polyneuropathies +
familial encephalopathy with neuroserpin inclusion bodies
Familial Partial Lipodystrophy Type 7
frontotemporal dementia +
Frontotemporal Lobar Degeneration +
Gerstmann-Straussler-Scheinker syndrome
Gilles de la Tourette syndrome +
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Optic Atrophies +
hereditary sensory neuropathy +
hereditary spastic paraplegia 75
Huntington's disease +
A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (DO)
Huntington's disease-like 2
Huntington's Disease-Like Syndrome
ITM2B-related cerebral amyloid angiopathy 2
juvenile amyotrophic lateral sclerosis with dementia
Kennedy's disease
Kluver-Bucy syndrome +
Kohlschutter-Tonz syndrome
Lafora disease +
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
Leukoencephalomyelopathy
Lewy body dementia +
MAST syndrome
Meige syndrome
mitochondrial DNA depletion syndrome 16B
mitochondrial DNA depletion syndrome 6
mood disorder +
Motor Neuron Disease with Dementia and Ophthalmoplegia
motor peripheral neuropathy +
multiple system atrophy +
myotonia congenita +
myotonic dystrophy type 1 +
Neuhauser Eichner Opitz Syndrome
neuroacanthocytosis +
neurofibromatosis +
neurogenic scapuloperoneal syndrome Kaeser type
neuroleptic malignant syndrome
neuronal ceroid lipofuscinosis +
Opticocochleodentate Degeneration
pantothenate kinase-associated neurodegeneration
Parkinsonism +
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
PCWH syndrome
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Presenile Dementia, Kraepelin Type
primary cerebellar degeneration +
Progressive Pallidal Degeneration with Retinitis Pigmentosa
Progressive Psychomotor Deterioration
progressive supranuclear palsy +
psychotic disorder +
Remitting Chorea with Nystagmus and Cataracts
Spastic Paraplegia with Associated Extrapyramidal Signs
Spastic Paraplegia, Optic Atrophy, and Dementia
spinal muscular atrophy with lower extremity predominant +
Spongiform Encephalopathy with Neuropsychiatric Features