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Sensory Disorders: Large Fiber & Ataxic

  Toxic
  Vitamin B6
  cis-platinum
  Semi-synthetic penicillins
  Taxol
Deficiency/ Malabsorption
  Vitamin B12
  Vitamin E

Immune
  GALOP Syndrome
  Anti-MAG antibody syndrome
  Miller Fisher Syndrome
  Anti-GD1b antibody syndrome
  Sensory ganglionopathy
   
  • Hu (Paraneoplastic)
        Sjögren's
        Idiopathic
  • Infection
     Syphilis - Tabes dorsalis

    Hereditary
      Recessive
        a-β-lipoproteinemia (Bassen-Kornzweig)
        Ataxia Telangectasia
        Friedreich's Ataxia
        Mitochondrial
        Scoliosis: PIEZO2
      Dominant
        Sensory ataxic neuropathy
        Sensory ataxic neuropathy 2: 16q22
        Sensory ataxia (SNAX1): RNF170; 8p11
        Posterior column ataxia (Biemond)
        Sensory neuropathy + scoliosis (Robinson)
        SCA 4

    Also see
      Hereditary
        Ataxic neuropathy + Thermoanalgesia
        Sensory & Autonomic Neuropathies
        Mitochondrial: Sporadic
      More pathology
      Large and Small Axon loss
        Neuropathies
        Ganglionopathies


  • Loss of large myelinated axons
    in peripheral nerve

    Posterior column ataxia (Biemond)

    Autosomal Dominant or Single generation

    Sensory neuropathy with Scoliosis (Robinson)

    Autosomal Dominant

    SCA46: Ataxia, Sensory Neuropathy + Cerebellar 1

      Phospholipase D family, member 3 (PLD3) ; Chromosome 19q13.2; Dominant
    • Epidemiology: 1 Dutch family; 5 patients
    • Genetics
      • Mutation: Missense; Leu308Pro
    • PLD3 protein
      • Catalyze hydrolysis of membrane phospholipids
      • Expression: High in cerebellum
      • Cell localization: Endoplasmic reticulum
    • Clinical
      • Onset age: 35 to 70 years
      • Sensory
        • Large fiber loss
          • Vibration: Reduced or Absent
          • Proprioception: Reduced
          • Distal > Proximal
          • Legs > Arms
        • Ataxia: Gait
        • Small fiber loss: Pain sensation mildly reduced
      • Strength: Normal
      • Reflexes: Reduced or absent in legs
      • Cerebellar
        • Eyes: Square wave jerks; Nystagmus; Saccades slow
        • Dysarthria
      • Course: Slow progression
    • Laboratory
      • Nerve conduction
        • SNAP amplitudes: Reduced or Absent
        • Conduction Velocity: Normal
      • Pathology
        • Myelinated axons: Reduced to 10% of normal
        • No regenerating clusters or onion bulbs
      • Sensory evoked potentials: Often unobtainable or reduced amplitude
      • Brain MRI: Normal or Cereberllar atrophy, mild

    Sensory Ataxic Neuropathy 2

      Chromosome 16q22.1; Dominant

    Toluidine blue stain

    Loss of large myelinated axons with relative preservation of small myelinated axons

    Return to Polyneuropathy Index
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    References
    1. Brain 1995;118:1557-1563

    8/5/2009