Neurodegenerative disorders

long-term degenerative neurological disorder

infectious disease caused by Borrelia bacteria, spread through the bite of blacklegged ticks

degenerative neurological disorder

Human medical condition

Prion disease of the human brain

central nervous system disease

group of dominantly inherited, predominately late-onset, cerebellar ataxias. Neuro-developmental outcome and brain-derived neurotrophic factor level in relation to feeding practice in early infancy.

neurodegenerative disorder characterized by autonomic failure, parkinsonism, cerebellar impairment and corticospinal signs, with a median survival of 6-9 years

rare insidious sequela from measles infection

severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells

Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents the repair of broken DNA, increasing the risk of cancer.

Human disease

slow degeneration (specifically, demyelination) of the neural tracts primarily in the dorsal columns (posterior columns) of the spinal cord (the portion closest to the back of the body) and dorsal roots

progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration

Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.

autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene

SACD

medical condition

human disease

aggregation of mis-folded proteins

carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment

Adrenomyeloneuropathy (AMN) is a rare hereditary neurodegenerative disorder that primarily affects the spinal cord and peripheral nerves, occurring in less than 1 in 40,000 people. It is characterised by progressive motor dysfunction and adrenal insufficiency. AMN is a form of X-linked adrenoleukodystrophy, a peroxisomal disorder caused by mutations in the ABCD1 gene. Symptoms most commonly begin in a person's late twenties. AMN predominantly affects adult males but heterozygous females may develop symptoms later in life. Treatments mainly center around symptom-management.

Human disease

Neuronal ceroid lipofuscinosis

inclusion bodies for misfolded proteins

Human disease

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia