Guest guest Posted November 15, 2005 Report Share Posted November 15, 2005 Mike, The same mutation causes Type 1F and Type 2E. A Neurofilament light chain mutation on chromosome 8p21. See below - you might want to ask your neurologist to test your daughter for these mutations. CMT 1F l Neurofilament light chain ; Chromosome 8p21; Dominant or Sporadic Genetics Mutations: Missense & Deletions Head domain: Glu7Lys; Pro8Arg; Pro8Gln; Pro8Leu; Glu89Lys Coil 1A: Asn97Ser Coil 2B: Gln333Pro Tail: Glu528del Allelic with: CMT 2E Onset Less than 13 years 2nd decade: Pro8Arg; Glu528del Early childhood: Other mutations Differential diagnosis: Dejerine-Sottas Gait disorder Clinical Weakiness Legs & Arms Distal > Proximal May be severe Early: Delayed motor milestones or gait disorder Muscle atrophy Tendon reflexes: Often reduced or absent Sensory loss Tremor: Some patients Electrophysiology Motor NCV: 15 to 38 M/s SNAPs: Often absent Axonal loss: Large & unmyelinated axons Regenerating clusters Onion bulbs (Small) Thinly myelinated axons ~ Gretchen Quote Link to comment Share on other sites More sharing options...
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