Rare SPG8 HSP described

Posted - June 2013 in Research Highlights

Only 7 families identified worldwide

SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 families described so far. Our purpose was to screen for KIAA0196 (SPG8) mutations in AD-HSP patients and to investigate their phenotype.

 

Extensive family investigation was performed after positive KIAA0196 mutation analysis, which was part of an on-going mutation screening effort in AD-HSP patients. A novel pathogenic KIAA0196 mutation p.(Gly696Ala) was identified in two AD-HSP patients, who subsequently were shown to belong to a single large Dutch pedigree with more than 10 affected family members.

The phenotype consisted of a pure HSP with ages at onset between 20 and 60 years, distally reduced vibration sense in the legs in all, and urinary urgency in seven out of 10 patients. Frequent features were exercise- or emotion-induced increase of spasticity and gait problems and chronic nonspecific lower back and joint pains.

We have identified a fourth pathogenic KIAA0196 mutation in a Dutch HSP-family, the seventh family worldwide, with a less severe clinical course than described before.

 

SOURCE:  J Neurol. 2013 Mar 2. [Epub ahead of print]  PMID: 23455931 [PubMed – as supplied by publisher]

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands, [email protected]

 

Comments on this story

  1. Ruth posted at 12:47 pm on 3 December 2016Reply

    Found this information very interesting. I have been diagnosed with SPG 8 fairly recently, may 2015, after seeing a neurologist st the Mayo Clinic in Scottsdale, AZ. I have had problems since my 40’s, I am now 72. But because many of my maternal relatives had what we called ” the disease” and we knew nothing could be done, no one had any testing done, which was appalling to the neurologist I saw at Mayo.
    This article describes my signs and symptoms to a T. My maternal ancestry is German, not Dutch. That being said, could you recommend a genetic testing group that would clear up questions re: my ancestry.
    Thank you very much for this informative article.
    Sincerely,
    Ruth

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