Re: cerebral folate deficiency in low-functioning autism: milk-free diet downregulates folate receptor autoimmunity

January 16, 2011

Interesting. My son was tested for both Folate blocking and Folate binding

autoantibodies by Dr. Quadros' group. he tested positive for binding

autoantibodies. We started Leucovorin at 50mg/day. We eventually reduced the

dosage to 25mg per day because of stomach upset. he is doing fine on 25 mg per

day and his vision has improved to 20/30 and his binocular vision has improved

to the point that any deficiency is negligable. The eye doctor said he could

barely detect any problems with binocular vision.

>

> Folate receptor autoimmunity and cerebral folate deficiency in

> low-functioning autism with neurological deficits.

> <http://www.ncbi.nlm.nih.gov/pubmed/18461502>

> Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV.

> Neuropediatrics. 2007 Dec;38(6):276-81.

>

> Reduced folate transport to the CNS was identified in two autism

> spectrum disorders, i.e., Rett syndrome and infantile low-functioning

> autism with neurological abnormalities. Twenty-five patients with

> early-onset low-functioning autism with or without neurological

> deficits, were evaluated for serum folate, cerebrospinal fluid (CSF)

> 5-methyltetrahydrofolate (5MTHF), and serum FR autoantibodies of the

> blocking type to determine the significance of folate receptor (FR)

> autoantibodies with respect to folate transport across the blood-CSF

> barrier. In spite of normal serum folate, CSF 5MTHF was low in 23 of 25

> patients. The reduced CSF folate in 19 of these 23 patients could be

> explained by serum FR autoantibodies blocking the folate binding site of

> the membrane-attached FR on the choroid epithelial cells. Oral folinic

> acid supplements led to normal CSF 5MTHF and partial or complete

> clinical recovery after 12 months. Serum FR autoimmunity appears to

> represent an important factor in the pathogenesis of reduced folate

> transport to the nervous system among children with early-onset

> low-functioning autism associated with or without neurological deficits.

> Early detection of FR autoantibodies may be a key factor in the

> prevention and therapeutic intervention among this subgroup of patients

> with autism.

>

> A milk-free diet downregulates folate receptor autoimmunity in cerebral

> folate deficiency syndrome. <http://www.ncbi.nlm.nih.gov/pubmed/18355335>

> Ramaekers VT, Sequeira JM, Blau N, Quadros EV.

> Dev Med Child Neurol. 2008 May;50(5):346-52

>

> In cerebral folate deficiency syndrome, the presence of autoantibodies

> against the folate receptor (FR) explains decreased folate transport to

> the central nervous system and the clinical response to folinic acid.

> Autoantibody crossreactivity with milk FR from different species

> prompted us to test the effect of a milk-free diet. Intervention with a

> milkfree diet in 12 children (nine males, three females; mean age 6y [sD

> 4y 11mo], range 1-19y), decreased autoantibody titer significantly from

> 2.08pmol of FR blocked per ml of serum (SD 2.1; range 0.24-8.35) to

> 0.35pmol (SD 0.49; range 0-1.32; p=0.012) over 3 to 13 months, whereas

> FR autoantibody titer increased significantly to 6.53 (SD 6.08; range

> 0.54-14.07; p=0.013) in nine children who were reexposed to milk for 6

> to 14 weeks. In 12 children on a normal diet (eight males, four females;

> mean age 5y 5mo [sD 4y 1mo], range 1y 6mo-16y 4mo), the antibody titer

> increased significantly from 0.84pmol of FR blocked per ml (SD 0.39;

> range 0.24-1.44) to 3.04pmol (SD 1.42; range 0.84-6.01; p=0.001) over 10

> to 24 months. Decreasing the autoantibody titer with a milk-free diet in

> conjunction with folinic acid therapy may be advocated for these patients.

>

> Cerebral folate deficiency. <http://www.ncbi.nlm.nih.gov/pubmed/19260931>

> Gordon N.

> Dev Med Child Neurol. 2009 Mar;51(3):180-2.

>

> Cerebral folate deficiency (CFD) is associated with low levels of

> 5-methyltetrahydrofolate in the cerebrospinal fluid (CSF) with normal

> folate levels in the plasma and red blood cells. The onset of symptoms

> caused by the deficiency of folates in the brain is at around 4 to 6

> months of age. This is followed by delayed development, with

> deceleration of head growth, hypotonia, and ataxia, followed in

> one-third of children by dyskinesias (choreo-athetosis, hemiballismus),

> spasticity, speech difficulties, and epilepsy. The low level of

> 5-methyltetrahydrofolate in the CSF can result from decreased transport

> across the blood-brain barrier, which is most probably because of the

> blocking of folate transport into the CSF by the binding of folate

> receptor antibodies to the folate receptors in the choroid plexus.

> Treatment of the condition with folinic acid for prolonged periods can

> result in significant improvement of clinical symptoms and a return of

> 5-methyltetrahydrofolate levels in the CSF to normal. In view of this

> response to treatment in CFD and allied conditions, a case can be made

> for screening the CSF of patients with neurological disorders of unknown

> origin.

>

January 27, 2011

How did leucovorin help his other ASD symptoms?

>

> Interesting. My son was tested for both Folate blocking and Folate binding

autoantibodies by Dr. Quadros' group. he tested positive for binding

autoantibodies. We started Leucovorin at 50mg/day. We eventually reduced the

dosage to 25mg per day because of stomach upset. he is doing fine on 25 mg per

day and his vision has improved to 20/30 and his binocular vision has improved

to the point that any deficiency is negligable. The eye doctor said he could

barely detect any problems with binocular vision.

>

January 28, 2011

Hard to say. He is very high functioning, to the point some are surprised he has

ASD (I always ask if they want him for a week - then they will know!). I do have

to say that he has been more motivated this year, doing schoolwork on his own.

He has been much more social and has been really making friends at school. Less

combative with us.

Is it the Leucovorin?? I would have a hard time saying definately, but there has

been a significant change in him and his attitudes since we started in August.

I am going to ask that he be tested for the MTHFR mutations. I am also going to

ask that I be tested for the autoantibodies since I know I have a partial

mutation on that gene and am having some possible folate function related health

problems.

> >

> > Interesting. My son was tested for both Folate blocking and Folate binding

autoantibodies by Dr. Quadros' group. he tested positive for binding

autoantibodies. We started Leucovorin at 50mg/day. We eventually reduced the

dosage to 25mg per day because of stomach upset. he is doing fine on 25 mg per

day and his vision has improved to 20/30 and his binocular vision has improved

to the point that any deficiency is negligable. The eye doctor said he could

barely detect any problems with binocular vision.

> >

>

January 30, 2011

He is a molecular biochemist at SUNY in NY.

http://www.downstate.edu/biochemistry/quadros.html

> >

> > Interesting. My son was tested for both Folate blocking and Folate binding

> autoantibodies by Dr. Quadros' group. he tested positive for binding

> autoantibodies. We started Leucovorin at 50mg/day. We eventually reduced the

> dosage to 25mg per day because of stomach upset. he is doing fine on 25 mg

> per day and his vision has improved to 20/30 and his binocular vision has

> improved to the point that any deficiency is negligable. The eye doctor said

> he could barely detect any problems with binocular vision.

> >

>

> No virus found in this incoming message.

> Checked by AVG - www.avg.com

> Version: 9.0.872 / Virus Database: 271.1.1/3396 - Release Date: 01/27/11

> 14:34:00

>

January 31, 2011

Hi Lidia,

I don't know much more. Dr. Frye ordered a blood draw and sent it to them. As i

understand it, the test is not commercially avaialable. This is an area the Dr.

Quadros is working in. They specifically tested for folate binding and folate

blocking auto-antibodies. I did have to pay a $100 " tax-deductable donation " to

cover the cost of testing. You can look up some of his research online. I would

also be happy to scan the test results later and email to you...

> > >

> > > Interesting. My son was tested for both Folate blocking and Folate

> binding

> > autoantibodies by Dr. Quadros' group. he tested positive for binding

> > autoantibodies. We started Leucovorin at 50mg/day. We eventually reduced

> the

> > dosage to 25mg per day because of stomach upset. he is doing fine on 25 mg

> > per day and his vision has improved to 20/30 and his binocular vision has

> > improved to the point that any deficiency is negligable. The eye doctor

> said

> > he could barely detect any problems with binocular vision.

> > >

> >

> > No virus found in this incoming message.

> > Checked by AVG - www.avg.com

> > Version: 9.0.872 / Virus Database: 271.1.1/3396 - Release Date: 01/27/11

> > 14:34:00

> >

February 1, 2011

Gee, I don't know. I don't think we are part of the study - we never signed

study papers etc... Dr. Frye just asked them to run this test is my

understanding. I would contact Dr. Quadros ( or the group) and ask directly. I

intend to ask if I can be tested somehow at our next appt in April.

> > > >

> > > > Interesting. My son was tested for both Folate blocking and Folate

> > binding

> > > autoantibodies by Dr. Quadros' group. he tested positive for binding

> > > autoantibodies. We started Leucovorin at 50mg/day. We eventually reduced

> > the

> > > dosage to 25mg per day because of stomach upset. he is doing fine on 25

> mg

> > > per day and his vision has improved to 20/30 and his binocular vision

> has

> > > improved to the point that any deficiency is negligable. The eye doctor

> > said

> > > he could barely detect any problems with binocular vision.

> > > >

> > >

> > > No virus found in this incoming message.

> > > Checked by AVG - www.avg.com

> > > Version: 9.0.872 / Virus Database: 271.1.1/3396 - Release Date: 01/27/11

> > > 14:34:00

> > >

February 4, 2011

How do you get a child tested for this? It isn't a Quest test.

> >

> > Folate receptor autoimmunity and cerebral folate deficiency in

> > low-functioning autism with neurological deficits.

> > <http://www.ncbi.nlm.nih.gov/pubmed/18461502>

> > Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV.

> > Neuropediatrics. 2007 Dec;38(6):276-81.

> >

> > Reduced folate transport to the CNS was identified in two autism

> > spectrum disorders, i.e., Rett syndrome and infantile low-functioning

> > autism with neurological abnormalities. Twenty-five patients with

> > early-onset low-functioning autism with or without neurological

> > deficits, were evaluated for serum folate, cerebrospinal fluid (CSF)

> > 5-methyltetrahydrofolate (5MTHF), and serum FR autoantibodies of the

> > blocking type to determine the significance of folate receptor (FR)

> > autoantibodies with respect to folate transport across the blood-CSF

> > barrier. In spite of normal serum folate, CSF 5MTHF was low in 23 of 25

> > patients. The reduced CSF folate in 19 of these 23 patients could be

> > explained by serum FR autoantibodies blocking the folate binding site of

> > the membrane-attached FR on the choroid epithelial cells. Oral folinic

> > acid supplements led to normal CSF 5MTHF and partial or complete

> > clinical recovery after 12 months. Serum FR autoimmunity appears to

> > represent an important factor in the pathogenesis of reduced folate

> > transport to the nervous system among children with early-onset

> > low-functioning autism associated with or without neurological deficits.

> > Early detection of FR autoantibodies may be a key factor in the

> > prevention and therapeutic intervention among this subgroup of patients

> > with autism.

> >

> > A milk-free diet downregulates folate receptor autoimmunity in cerebral

> > folate deficiency syndrome. <http://www.ncbi.nlm.nih.gov/pubmed/18355335>

> > Ramaekers VT, Sequeira JM, Blau N, Quadros EV.

> > Dev Med Child Neurol. 2008 May;50(5):346-52

> >

> > In cerebral folate deficiency syndrome, the presence of autoantibodies

> > against the folate receptor (FR) explains decreased folate transport to

> > the central nervous system and the clinical response to folinic acid.

> > Autoantibody crossreactivity with milk FR from different species

> > prompted us to test the effect of a milk-free diet. Intervention with a

> > milkfree diet in 12 children (nine males, three females; mean age 6y [sD

> > 4y 11mo], range 1-19y), decreased autoantibody titer significantly from

> > 2.08pmol of FR blocked per ml of serum (SD 2.1; range 0.24-8.35) to

> > 0.35pmol (SD 0.49; range 0-1.32; p=0.012) over 3 to 13 months, whereas

> > FR autoantibody titer increased significantly to 6.53 (SD 6.08; range

> > 0.54-14.07; p=0.013) in nine children who were reexposed to milk for 6

> > to 14 weeks. In 12 children on a normal diet (eight males, four females;

> > mean age 5y 5mo [sD 4y 1mo], range 1y 6mo-16y 4mo), the antibody titer

> > increased significantly from 0.84pmol of FR blocked per ml (SD 0.39;

> > range 0.24-1.44) to 3.04pmol (SD 1.42; range 0.84-6.01; p=0.001) over 10

> > to 24 months. Decreasing the autoantibody titer with a milk-free diet in

> > conjunction with folinic acid therapy may be advocated for these patients.

> >

> > Cerebral folate deficiency. <http://www.ncbi.nlm.nih.gov/pubmed/19260931>

> > Gordon N.

> > Dev Med Child Neurol. 2009 Mar;51(3):180-2.

> >

> > Cerebral folate deficiency (CFD) is associated with low levels of

> > 5-methyltetrahydrofolate in the cerebrospinal fluid (CSF) with normal

> > folate levels in the plasma and red blood cells. The onset of symptoms

> > caused by the deficiency of folates in the brain is at around 4 to 6

> > months of age. This is followed by delayed development, with

> > deceleration of head growth, hypotonia, and ataxia, followed in

> > one-third of children by dyskinesias (choreo-athetosis, hemiballismus),

> > spasticity, speech difficulties, and epilepsy. The low level of

> > 5-methyltetrahydrofolate in the CSF can result from decreased transport

> > across the blood-brain barrier, which is most probably because of the

> > blocking of folate transport into the CSF by the binding of folate

> > receptor antibodies to the folate receptors in the choroid plexus.

> > Treatment of the condition with folinic acid for prolonged periods can

> > result in significant improvement of clinical symptoms and a return of

> > 5-methyltetrahydrofolate levels in the CSF to normal. In view of this

> > response to treatment in CFD and allied conditions, a case can be made

> > for screening the CSF of patients with neurological disorders of unknown

> > origin.

> >

February 4, 2011

http://www.direct-ms.org/pdf/ImmunologyOther/AutoantibodiesFolate.pdf

> >

> > Interesting. My son was tested for both Folate blocking and Folate binding

autoantibodies by Dr. Quadros' group. he tested positive for binding

autoantibodies. We started Leucovorin at 50mg/day. We eventually reduced the

dosage to 25mg per day because of stomach upset. he is doing fine on 25 mg per

day and his vision has improved to 20/30 and his binocular vision has improved

to the point that any deficiency is negligable. The eye doctor said he could

barely detect any problems with binocular vision.

> >

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Re: cerebral folate deficiency in low-functioning autism: milk-free diet downregulates folate receptor autoimmunity

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