ALS is characterised by adult onset of focal asymmetric involvement of upper and lower motor neuron systems with later generalisation, bulbar motor involvement, rapid disease progression, and early death (MIM Phenotype number 617921).
Phenotypes commonly presented in HSP (MIM Phenotype number 604187) include lower limb spasticity, Parkinsonism, Axonal sensorimotor peripheral neuropathy, distal sensory impairment and urinary incontinence. Symptoms may present themselves in childhood or young adulthood.
Some of the neurological phenotypes associated with Charcot-MarieTooth disease (CMT2) include distal limb muscle atrophy and weakness due to peripheral neuropathy, low to normal range of motor nerve conduction velocity (NCV) (25-54 m/s), loss of myelinated fibres on nerve biopsy and axonal degeneration (MIM Phenotype number 606482).
KIF5A