Recessively-inherited mutations in " NTE " that substantially reduce its catalytic activity cause a rare form of hereditary spastic paraplegia ( SPG39 ), in which distal parts of long spinal axons degenerate leading to limb weakness and paralysis.
22.
A mutation in this gene has been reported to be associated with Hereditary spastic paraplegia, however the Pathogenicity of the mutation, which may simply represent a Polymorphism ( biology ), is unclear . [ provided by RefSeq, Mar 2010 ].
23.
A mutation ( c . 947A > T ) in CYP2U1 has been associated in a very small number of patients with Hereditary spastic paraplegia in that it segregates with the disease at the homozygous state in two afflicted families.
24.
Diseases that can cause foot drop include direct hit to posterolateral neck of fibula, stroke, amyotrophic lateral sclerosis ( ALS or Lou Gehrig's Disease ), muscular dystrophy, Charcot Marie Tooth disease, multiple sclerosis, cerebral palsy, hereditary spastic paraplegia, Guillain Barr?syndrome and Friedreich's ataxia.
25.
Studies of Cycloidal Vibration Technology and neuromuscular disease processes such as spastic paraplegia and hemiplegia, multiple sclerosis, cerebral palsy and partial paraplegia has been shown to release tension of striated muscle and maintain relaxation in the associated spasms for several hours providing therapeutic relief and an improved quality of life.
26.
A heterozygous deletion in GRID2 in humans causes a complicated spastic paraplegia with ataxia, frontotemporal dementia, and lower motor neuron involvement whereas a homozygous biallelic deletion leads to a syndrome of cerebellar ataxia with marked developmental delay, pyramidal tract involvement and tonic upgaze, that can be classified as an ataxia with oculomotor apraxia ( AOA ).
27.
These situations include those who have suffered meningitis, a congenital ( birth-originating ) brain infection, congenital hydrocephalus unrelated to the person's premature birth, a person who has suffered head trauma, or a person with some sort of familial disease ( e . g ., those with hereditary spastic paraplegia are said to not be SDR candidates ).
28.
Symptoms can vary and include : developmental regression of motor and cognitive skills in the first years of life leading to death ( encephalopathy ), muscle weakness and spasticity in lower limbs ( spastic paraplegia type XVII ), weakness of distal muscles of upper limbs ( distal hereditary motor neuropathy type V ) as well as wasting of the hand muscles ( in both cases ).
