The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia.
2.
This is the case in Friedreich's ataxia, hereditary spastic paraplegia, and Wilson's disease.
3.
Additionally the loss of its production appears to be one cause of the human neurological disease, Hereditary spastic paraplegia.
4.
Together with French physician Maurice Lorrain, the eponymous Str�mpell Lorrain disease is named, which is an hereditary spastic paraplegia.
5.
This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders as well as spastic ataxia-neuropathy syndrome.
6.
Hereditary spastic paraplegias ( HSPs ) are a group of inherited neurological disorders which are characterized by progressive spasticity and weakness of the lower extremities.
7.
Mutations in the " ATL1 " gene are also a common cause of early-onset hereditary spastic paraplegia ( HSP ) in humans.
8.
Hereditary spastic paraplegia was first described in 1883 by Adolph Str�mpell, a German neurologist, and was later described more extensively in 1888 by Maurice Lorrain, a French physician.
9.
A second homozygous enzyme-disabling mutation has been identified in CYP2U1, c . 1A > C / p . Met1 ?, that is associated with < 1 % of hereditary spastic paraplegia sufferers.
10.
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.
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