Central nervous system

• amyelencephaly
  12 June 2008

  See also
  anencephaly

• infantile X-linked spinal muscular atrophy
  2 May 2008

  X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death.
  Etiology
  UBE1 germline mutations in infantile X-linked spinal muscular atrophy (MIM.301830) (#18179898#) Modification of proteins with ubiquitin (UBB) (MIM.191339) or ubiquitin-like proteins controls many signaling networks and requires (...)

• neuronal intermediate filaments
  21 April 2008

  Neurofilaments (NFs) are the most abundant structural components in large-diameter myelinated axons.
  Assembled as obligate heteropolymers requiring NF-L and substoichiometric amounts of NF-M and/or NF-H, NF investment into axons is essential for establishment of axonal caliber, itself a key determinant of conduction velocity.
  Use of transgenic mice to increase axonal accumulation of NFs or to express mutant NFs subunits has proven that aberrant organization or assembly of NFs is (...)

• ataxia-oculomotor apraxia
  20 April 2008

  AOA, EAOH

• ALS-FTD
  20 April 2008

  Association of amyotrophic lateral sclerosis and frontotemporal dementia

• extracellular ghost tangles
  29 March 2008

  Definition: Tau filaments (TAU) accumulate in dystrophic neurites as fine neuropil threads or as bundles of PHFs in neuronal bodies, forming neurofibrillary tangles (NFTs) which become "extracellular ghost tangles" after the death of the neurons (neuronal death).
  See also
  neurodegenration
  neurodegenerative diseases

• cerebral protein aggregation
  29 March 2008

  cerebral protein aggregates

• Chiari Type II malformation (CM II)
  5 March 2008

  The Chiari Type II malformation (CM II) is a unique hindbrain herniation found only in patients with myelomeningocele.

• axonal regeneration
  20 February 2008

  Axonal regeneration-associated genes
  Genes that are upregulated following axonal injury (for example, Gap43, Sprr 1a, Fn14 and arginase I). Increased expression correlates with regeneration in peripheral but not central neurons.

• nerve regeneration
  19 February 2008

  references
  Bradbury EJ, McMahon SB. Spinal cord repair strategies: why do they work? Nat Rev Neurosci. 2006 Aug;7(8):644-53. Review. PMID: #16858392#
  Yiu G, He Z. Glial inhibition of CNS axon regeneration.Nat Rev Neurosci. 2006 Aug;7(8):617-27. PMID: 16858390
  Harel NY, Strittmatter SM. Can regenerating axons recapitulate developmental guidance during recovery from spinal cord injury? Nat Rev Neurosci. 2006 Aug;7(8):603-16. PMID: (...)

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