Flashcards: Neurodegenerative disorders

Progressive supranuclear palsy (PSP; or the Steele-Richardson-Olszewski syndrome, after the physicians who described it in 1963) is a degenerative disease involving the gradual deterioration and death of specific volumes of the brain.

Fatal familial insomnia (FFI) is an extremely rare autosomal dominant inherited prion disease of the brain.

Batten disease is an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood.

Niemann–Pick disease (/niːmənˈpɪk/ nee-mən-PIK) is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.

Parkinson's disease (PD) is a long-term disorder of the central nervous system that mainly affects the motor system.

Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease and motor neurone disease (MND), is a specific disease that causes the death of neurons which control voluntary muscles.

Dementia with Lewy bodies (DLB) is a type of dementia that gradually worsens over time.

Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare autosomal recessive genetic disorder.

Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome ) is a rare, neurodegenerative, autosomal recessive disease causing severe disability.

Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B.

Optic neuritis is a demyelinating inflammation of the optic nerve.

Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues.

A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged.

Corticobasal degeneration (CBD) or corticobasal ganglionic degeneration (CBGD) is a rare, progressive neurodegenerative disease involving the cerebral cortex and the basal ganglia.

Not to be confused with Tautopathy, which is a controversial alternative medicine practice similar to Homeopathy.

Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia, rigidity, and postural instability.

Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and formerly called Hallervorden–Spatz syndrome (use of this eponym is somewhat discouraged due to Hallervorden and Spatz's affiliation with the Nazi regime and the ethically questionable manner in which they acted), is a degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death.

Tabes dorsalis, also known as syphilitic myelopathy, is a slow degeneration (specifically, demyelination) of the nerves primarily in the dorsal columns (posterior columns) of the spinal cord (the portion closest to the back of the body).

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Mental retardation, X-linked, syndromic, Najm type (MRXSNA), is a rare genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia.

Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease or Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities.

Subacute sclerosing panencephalitis (SSPE) also known as Dawson Disease, Dawson encephalitis, and measles encephalitis is a rare and chronic form of progressive brain inflammation caused by a persistent infection with measles virus (which can be a result of a mutation of the virus itself).

Infantile Refsum disease (IRD), also called infantile phytanic acid storage disease, is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum.

Subacute combined degeneration of spinal cord, also known as Lichtheim's disease, refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B12 deficiency (most common), vitamin E deficiency, and copper deficiency.

Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism.

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

Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner.