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.

    • Walt posted at 12:44 am on 28 October 2017Reply

      I have hsp spg8. Also a German family. Sounds like my mothers family from Kansas. Nobody wanted to talk about it or its symptoms. I’m 44. Been diagnosed since 2015. First real symptoms started with a distended bladder. Try Athena diagnostics. They have the test for spg8. Eight siblings in my family. Six of us have it. I was told once by dr Fink that my family was the reason he got interested in hsp. And tht we have the highest rate of any known family in the world. Some luck. Other symptoms are constipation, although that could be from the flomax that I take for my neurogenic bladder. Lots of numbness in my feet. I can’t tie my shoes. My feet go numb and then causes pain in my knees. Pain can happen at any time. My mother is 81 and totally bed ridden. It causes a lot of pain. I lose my balance a lot. I stub my toes a lot. Just wanted to share some things that someone who has this type can expect from it. Also causes a lot of fatigue. Very hot and cold temperatures cause pain. I also have to self cath several times a day. My bladder doesn’t work well first thing in the morning. It’s like it has to wake up. Without the flomax I couldn’t urinate at all. I take zanflex at night for spasticity. I’d be totally screwed without it. Honestly, I guess I knew I had it as a kid. My feet would jump as a small child. Nobody would talk about it. Everyone who has got the disease in my family started showing symptoms at around age 40. Our family had a clinical trial done in 1998.

      • Jill posted at 5:39 am on 2 December 2017

        I have hsp spg8 diagnosed by Athena in Boston. I have extreme pain in my legs and feet from the waist down. Tried baclofen, tizanidine, with no success. I use morphine and have slight relief. The pain is overwhelming. If anyone has leg pain and found relief please help.

  2. Walter posted at 1:36 pm on 25 December 2017Reply


    I totally understand. I’m so uncomfortable tonight. It’s christmas Eve. I live in Youngstown Ohio area. I’m from Pennsylvania. My mother and sisters get relief from tramadol, Percocet and OxyContin. Have to go to pain medicine doctors. Tizanidine just makes me sleepy. It does help a little. Seriously, beer or wine is better than muscle relaxers for me. I hate to do it. But in Ohio it’s very difficult to get my doctors to write a script to see a pain medicine doctor. Ohio is number one in overdoses. Doctors around here are very hesitant to prescribe pain meds. Tramadol seems to work well for family members. Be careful of ssri’s. I had a sister who overdosed and died on celexa. Her doctor wouldn’t prescribe narcotics and overprescribed celexa. My doctor would give me all the tizanidine in the world instead of giving me something that works. My mother also takes oxymorphine. All in moderation. I wish you the best. This is a lonely disease. It stinks. Baclofen is awful for me. Five days and I thought I was having a heart attack. It did nothing for me. My one sister does have some success with it. I stretch a lot. I also have a precor elliptical or use the cybex arc trainer at planet fitness. They are very smooth and create positive blood flow that helps. I’ll keep you in prayer.


  3. Annaika posted at 1:30 pm on 4 July 2019Reply

    Oh my God! I am not crazy. Thank you for sharing your stories. All of you have described my life to a T. I am suffering and nobody has answers to why I am in constant agony with excruciating joint pain muscle spasm that have cripple my life for several years. The SPG8 gene was found during a genetic testing they did for me in 2008. The doctor said my unknown pain and struggles could be due to the SPG8 variant in my gene but there was not enough test to clinically make this conclusion. Therefore, they couldn’t do anything for me. They have ruled out everything that my pain manic, Sickle cell, MS, Lupus, Lyme disease, etc.all my result were negative. Thank you! with tears in my eyes it feels good to know I am not alone.

  4. Walt posted at 6:25 pm on 7 September 2019Reply


    You’re not crazy. Less than five years since being diagnosed. I’m not in constant pain. Unfortunately in America our politicians are now on this crusade against meds that work and are making tons of money pushing worthless pot and cbd. Can’t even imagine the kickbacks they are getting. A small town mayor in Massachusetts just got in trouble for taking $600,000 in bribes for approving four cbd licenses. They don’t even set dosage requirements for illnesses. Anyway. So much for helping people with pain. Stress makes it worse. You have to stretch and try to do weight training and to use an elliptical for blood flow. Helps with healing and eases my pain if just for a little bit. Keep an eye on the bladder. See a urologist regularly. I self cath. You don’t want to get to that point if you don’t have to. Not that it’s so hard. It’s intimidating but it’s more a pain than anything. Keep an eye on the bladder. Also. Bowel movements are an issue. Eat soluble fiber. Oat meal, flax seed and oat bran. Quaker makes a high soluble fiber product that helps. I eat lots of almonds and walnuts also. Take a flax seed and fish oil supplement. Can’t hurt. I’m guessing you had a genetic test with Athena diagnostics for spg8. If not that’s who does the test. I have four siblings who have it. Another had it but she died. Overdosed on Celexa. Drs like to push Paxil and cymbalta and gabapentin and such. Only sibling who doesn’t have it has MS. Her new dr thinks the gene mutated her body to give her MS. I’ve been told my family has the highest rate of hsp in the world. Watched it my whole life with my mom. Then one sibling after another. Hope some of this helps. It’s been my experience even in my own family that people don’t share their symptoms and how they deal with it. Sharing information is good. Wish you the best. Keep an upbeat outlook and if you’re a believer in god then pray. Don’t know. And don’t want to offend anyone. But it helps me. My siblings like to laugh at our problems. We kind of make fun at each other in a making way. Keep your outlook good. Eat healthy and try to exercise.


Add your comment on this story