2017-07-29T10:48:12+03:00[Europe/Moscow] en true Sandhoff disease, Pantothenate kinase-associated neurodegeneration, Ataxia telangiectasia, Tabes dorsalis, Parkinson's disease, Tay–Sachs disease, Dementia with Lewy bodies, Batten disease, Corticobasal degeneration, Refsum disease, Tauopathy, Demyelinating disease, Niemann–Pick disease, Parkinsonism, Progressive supranuclear palsy, Amyotrophic lateral sclerosis, Fatal familial insomnia, Spinocerebellar ataxia, Optic neuritis, Autosomal dominant cerebellar ataxia, Subacute sclerosing panencephalitis, Machado–Joseph disease, Neuroacanthocytosis, Subacute combined degeneration of spinal cord, Pyruvate dehydrogenase deficiency, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, Infantile Refsum disease flashcards
Neurodegenerative disorders

Neurodegenerative disorders

  • Sandhoff disease
    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.
  • Pantothenate kinase-associated neurodegeneration
    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.
  • Ataxia telangiectasia
    Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome ) is a rare, neurodegenerative, autosomal recessive disease causing severe disability.
  • Tabes dorsalis
    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).
  • Parkinson's disease
    Parkinson's disease (PD) is a long-term disorder of the central nervous system that mainly affects the motor system.
  • Tay–Sachs disease
    Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare autosomal recessive genetic disorder.
  • Dementia with Lewy bodies
    Dementia with Lewy bodies (DLB) is a type of dementia that gradually worsens over time.
  • Batten disease
    Batten disease is an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood.
  • Corticobasal degeneration
    Corticobasal degeneration (CBD) or corticobasal ganglionic degeneration (CBGD) is a rare, progressive neurodegenerative disease involving the cerebral cortex and the basal ganglia.
  • Refsum disease
    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.
  • Tauopathy
    Not to be confused with Tautopathy, which is a controversial alternative medicine practice similar to Homeopathy.
  • Demyelinating disease
    A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged.
  • Niemann–Pick disease
    Niemann–Pick disease (/niːmənˈpɪk/ nee-mən-PIK) is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.
  • Parkinsonism
    Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia, rigidity, and postural instability.
  • Progressive supranuclear palsy
    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.
  • Amyotrophic lateral sclerosis
    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.
  • Fatal familial insomnia
    Fatal familial insomnia (FFI) is an extremely rare autosomal dominant inherited prion disease of the brain.
  • Spinocerebellar ataxia
    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.
  • Optic neuritis
    Optic neuritis is a demyelinating inflammation of the optic nerve.
  • Autosomal dominant cerebellar ataxia
    Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner.
  • Subacute sclerosing panencephalitis
    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).
  • Machado–Joseph disease
    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.
  • Neuroacanthocytosis
    Neuroacanthocytosis is a label applied to several neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.
  • Subacute combined degeneration of spinal cord
    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
    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.
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    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.
  • Infantile Refsum disease
    Infantile Refsum disease (IRD), also called infantile phytanic acid storage disease, is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum.