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olly

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Published online before print September 17, 2008, doi:10.1212/01.wnl.0000319700.11606.21)
This Article

PubMed Citation
Articles by Brugman, F.
Articles by van den Berg, L. H


NEUROLOGY 2008;71:1500-1505
© 2008 American Academy of Neurology

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes
Objective: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset upper motor neuron (UMN) syndromes.

Methods: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower motor neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene.

Results: Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34–42) than in the 91 patients without mutations (51 years, range 18–77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up.

Conclusions: Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
 

Al

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What? Interesting, but I have no idea what that is all about.

AL.
 

brendapals

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me either, I read it, but I don't "get" it
-brenda
 

olly

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:oops:sorry.
basically ,despite hsp being hereditory it can occasionally be sporadic and pls tends to be sporadic.
this study shows in sporadic cases of umn desease of younger(before mean age of 50 onset)patients with limb onset they have found a mutation responsible.
were as those within the normal mean age /bulbar onset no mutation was found.
so those who develop "sporadic" umn desease before the mean age may infact be genetic/hereditory.
hope that helps
 

Al

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Clear as mud dear. LOL. That does help a bit but that stuff is more up wright's alley.

AL.
 

brendapals

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ditto,
clear as mud
-brenda
 
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