"Parenchymal and reticuloendothelial iron overload"
"Diabetes and progressive neurodegeneration with extrapyramidal
disorders, ataxia, and dementia."
"Aceruloplasminaemia could be underdiagnosed"
"Iron accumulation in aceruloplasminemia is more extensive than
previously believed"

American Journal of Neuroradiology 26:657-661, March 2005
? 2005 American Society of Neuroradiology

Case Report
BRAIN
MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia
Marina Grisolia, Alberto Pipernob, Luisa Chiapparinia, Raffaella
Marianib and Mario Savoiardoa
a Department of Neuroradiology, Istituto Nazionale Neurologico C.
Besta, Milano
b Department of Clinical Medicine, Azienda Ospedaliera San Gerardo,
Universit Milano-Bicocca, Monza, Italy

Address reprint requests to M. Grisoli, MD, Department of
Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria
11, 20133 Milano, Italy

Summary:
Aceruloplasminemia is a rare autosomal recessive disorder.
The lack of ceruloplasmin ferroxidase activity leads to parenchymal
and reticuloendothelial iron overload, resulting in diabetes and
progressive neurodegeneration with extrapyramidal disorders,
ataxia, and dementia.
We describe the MR imaging findings in a 40-year-old woman with
hereditary aceruloplasminemia.
The abnormal T2 hypointensities were more marked than those
seen in any other condition, including degenerative disorders of the
basal ganglia and Wilson disease, and they may be typical of
aceruloplasminemia.
To our knowledge, involvement of the cortex has not been described
and suggests that brain iron accumulation in aceruloplasminemia
is more extensive than previously believed, even in asymptomatic
patients.

----------------

Journal of Neurology Neurosurgery and Psychiatry 2004;75:334-337
? 2004 BMJ Publishing Group Ltd
SHORT REPORT
Clinical, molecular, and pet study of a case of aceruloplasminaemia
presenting with focal cranial dyskinesia
I Haemers1, S Kono3, S Goldman2, J D Gitlin3 and M Pandolfo1

1 Department of Neurology, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
2 PET/Biomedical Cyclotron Unit, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
3 Department of Pediatrics, Washington University School of Medicine,
St Louis, Missouri

Correspondence to:
Correspondence to:
Dr M Pandolfo
Service de Neurologie, H?pital Erasme, Route de Lennik 808, 1070

ABSTRACT

Aceruloplasminaemia is a rare recessive disorder caused by mutations
in
the gene encoding the multicopper ferroxidase ceruloplasmin, thought
to be
involved in cellular iron export.
Primary intracellular iron accumulation characterises this disorder.
We investigated a case of aceruloplasminaemia early in the course of
the
disease by structural and functional neuroimaging and correlated the
results
with the clinical findings.
The patient, a diabetic 59 year old lady, presented with peri{*filter*}
dyskinesia.
Magnetic resonance imaging (MRI) revealed massive iron accumulation
in
the basal ganglia, notably sparing the pallidum, and along the
cortical surface.
However, most of these structures had preserved metabolic activity as
evaluated
by fluorodeoxyglucose positron emission tomography (FDG-PET).
Voxel based analysis of FDG-PET data showed a significant
hypometabolism
only in the heads of the caudate nuclei.
Molecular genetic analysis revealed compound heterozygosity for two
null
mutations in the ceruloplasmin gene, a rather surprising finding for a
very rare
recessive disease, suggesting that aceruloplasminaemia could be
somewhat
more frequent than is commonly thought and could therefore be
underdiagnosed.

Keywords: aceruloplasminaemia; iron metabolism; magnetic resonance
imaging; molecular genetics; positron emission tomography

Abbreviations: CT, computed tomography; DFO, desferioxamine; FDG-PET,
fluorodeoxyglucose positron emission tomography; GPI,
glycosylphosphatidylinositol; MRI, magnetic resonance imaging; PET,
positron emission tomography; PANK2, an isoform of pantothenate
kinase; PKAN, pantothenate kinase associated neurodegeneration

Who loves ya.
Tom

Jesus Was A Vegetarian!
http://www.***.com/

Man Is A Herbivore!
http://www.***.com/

DEAD PEOPLE WALKING
http://www.***.com/

"Aceruloplasminemia is a rare autosomal recessive disorder."

There you go again, providing another counter example to the meat idea
for all disease.  That idea now long dead as a dodo.

Its genetic son, genetic as it clearly says.  The presence of iron
follows and does not cause it.

Logic son, logic is whats ya need.

I suppose I should append the article for those in the crowd
who fail to understand the article.
This article in a series of articles evidence the relationship
between different diseases and the consequences of iron in excess
in the different organs.
In the human body this increased iron is associated with diabetes
and neurodegeneration ataxia and dementia.
For those of you with dementia .. I .. forgot what I was saying ..

"Parenchymal and reticuloendothelial iron overload"
"Diabetes and progressive neurodegeneration with extrapyramidal
disorders, ataxia, and dementia."
"Aceruloplasminaemia could be underdiagnosed"
"Iron accumulation in aceruloplasminemia is more extensive than
previously believed"

American Journal of Neuroradiology 26:657-661, March 2005
? 2005 American Society of Neuroradiology

Case Report
BRAIN
MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia
Marina Grisolia, Alberto Pipernob, Luisa Chiapparinia, Raffaella
Marianib and Mario Savoiardoa
a Department of Neuroradiology, Istituto Nazionale Neurologico C.
Besta, Milano
b Department of Clinical Medicine, Azienda Ospedaliera San Gerardo,
Universit Milano-Bicocca, Monza, Italy

Address reprint requests to M. Grisoli, MD, Department of
Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria
11, 20133 Milano, Italy

Summary:
Aceruloplasminemia is a rare autosomal recessive disorder.
The lack of ceruloplasmin ferroxidase activity leads to parenchymal
and reticuloendothelial iron overload, resulting in diabetes and
progressive neurodegeneration with extrapyramidal disorders,
ataxia, and dementia.
We describe the MR imaging findings in a 40-year-old woman with
hereditary aceruloplasminemia.
The abnormal T2 hypointensities were more marked than those
seen in any other condition, including degenerative disorders of the
basal ganglia and Wilson disease, and they may be typical of
aceruloplasminemia.
To our knowledge, involvement of the cortex has not been described
and suggests that brain iron accumulation in aceruloplasminemia
is more extensive than previously believed, even in asymptomatic
patients.

----------------

Journal of Neurology Neurosurgery and Psychiatry 2004;75:334-337
? 2004 BMJ Publishing Group Ltd
SHORT REPORT
Clinical, molecular, and pet study of a case of aceruloplasminaemia
presenting with focal cranial dyskinesia
I Haemers1, S Kono3, S Goldman2, J D Gitlin3 and M Pandolfo1

1 Department of Neurology, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
2 PET/Biomedical Cyclotron Unit, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
3 Department of Pediatrics, Washington University School of Medicine,
St Louis, Missouri

Correspondence to:
Correspondence to:
Dr M Pandolfo
Service de Neurologie, H?pital Erasme, Route de Lennik 808, 1070

ABSTRACT

Aceruloplasminaemia is a rare recessive disorder caused by mutations
in
the gene encoding the multicopper ferroxidase ceruloplasmin, thought
to be
involved in cellular iron export.
Primary intracellular iron accumulation characterises this disorder.
We investigated a case of aceruloplasminaemia early in the course of
the
disease by structural and functional neuroimaging and correlated the
results
with the clinical findings.
The patient, a diabetic 59 year old lady, presented with peri{*filter*}
dyskinesia.
Magnetic resonance imaging (MRI) revealed massive iron accumulation
in
the basal ganglia, notably sparing the pallidum, and along the
cortical surface.
However, most of these structures had preserved metabolic activity as
evaluated
by fluorodeoxyglucose positron emission tomography (FDG-PET).
Voxel based analysis of FDG-PET data showed a significant
hypometabolism
only in the heads of the caudate nuclei.
Molecular genetic analysis revealed compound heterozygosity for two
null
mutations in the ceruloplasmin gene, a rather surprising finding for
a
very rare
recessive disease, suggesting that aceruloplasminaemia could be
somewhat
more frequent than is commonly thought and could therefore be
underdiagnosed.

Keywords: aceruloplasminaemia; iron metabolism; magnetic resonance
imaging; molecular genetics; positron emission tomography

Abbreviations: CT, computed tomography; DFO, desferioxamine; FDG-PET,
fluorodeoxyglucose positron emission tomography; GPI,
glycosylphosphatidylinositol; MRI, magnetic resonance imaging; PET,
positron emission tomography; PANK2, an isoform of pantothenate
kinase; PKAN, pantothenate kinase associated neurodegeneration

Who loves ya.
Tom

Jesus Was A Vegetarian!
http://www.***.com/

Man Is A Herbivore!
http://www.***.com/

DEAD PEOPLE WALKING
http://www.***.com/

"Aceruloplasminemia is a rare autosomal recessive disorder."

There you go again, providing another counter example to the meat idea
for all disease.  That idea now long dead as a dodo.

Its genetic son, genetic as it clearly says.  The presence of iron
follows and does not cause it.

Logic son, logic is whats ya need.

Response:

"This article in a series of articles evidence the relationship
between different diseases and the consequences of iron in excess
in the different organs."

But the important question is why there is iron overload.  In the
present case the bodies finely tuned process of controlling iron is
distorted by a genetic cause.  In many diseases excess iron results from
tissue damage which causes it to be freed from storage.  In which case
the iron is the effect not the cause of the disease.  

In pursuit of your pre-imagined agenda you confuse and reverse this.

question is why there is iron overload. <<

No .. the important thing is to remove it ..

Don't you think the first .. thing .. would be to remove this
iron .. ?

This article in a series of articles evidence the relationship
between different diseases and the consequences of iron in excess
in the different organs.
In the human body this increased iron is associated with diabetes
and neurodegeneration ataxia and dementia.
For those of you with dementia .. I .. forgot what I was saying ..

"Parenchymal and reticuloendothelial iron overload"
"Diabetes and progressive neurodegeneration with extrapyramidal
disorders, ataxia, and dementia."
"Aceruloplasminaemia could be underdiagnosed"
"Iron accumulation in aceruloplasminemia is more extensive than
previously believed"

American Journal of Neuroradiology 26:657-661, March 2005
? 2005 American Society of Neuroradiology

Case Report
BRAIN
MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia
Marina Grisolia, Alberto Pipernob, Luisa Chiapparinia, Raffaella
Marianib and Mario Savoiardoa
a Department of Neuroradiology, Istituto Nazionale Neurologico C.
Besta, Milano
b Department of Clinical Medicine, Azienda Ospedaliera San Gerardo,
Universit Milano-Bicocca, Monza, Italy

Address reprint requests to M. Grisoli, MD, Department of
Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria
11, 20133 Milano, Italy

Summary:
Aceruloplasminemia is a rare autosomal recessive disorder.
The lack of ceruloplasmin ferroxidase activity leads to parenchymal
and reticuloendothelial iron overload, resulting in diabetes and
progressive neurodegeneration with extrapyramidal disorders,
ataxia, and dementia.
We describe the MR imaging findings in a 40-year-old woman with
hereditary aceruloplasminemia.
The abnormal T2 hypointensities were more marked than those
seen in any other condition, including degenerative disorders of the
basal ganglia and Wilson disease, and they may be typical of
aceruloplasminemia.
To our knowledge, involvement of the cortex has not been described
and suggests that brain iron accumulation in aceruloplasminemia
is more extensive than previously believed, even in asymptomatic
patients.

----------------

Journal of Neurology Neurosurgery and Psychiatry 2004;75:334-337
? 2004 BMJ Publishing Group Ltd
SHORT REPORT
Clinical, molecular, and pet study of a case of aceruloplasminaemia
presenting with focal cranial dyskinesia
I Haemers1, S Kono3, S Goldman2, J D Gitlin3 and M Pandolfo1

1 Department of Neurology, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
2 PET/Biomedical Cyclotron Unit, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
3 Department of Pediatrics, Washington University School of Medicine,
St Louis, Missouri

Correspondence to:
Correspondence to:
Dr M Pandolfo
Service de Neurologie, H?pital Erasme, Route de Lennik 808, 1070

ABSTRACT

Aceruloplasminaemia is a rare recessive disorder caused by mutations
in
the gene encoding the multicopper ferroxidase ceruloplasmin, thought
to be
involved in cellular iron export.
Primary intracellular iron accumulation characterises this disorder.
We investigated a case of aceruloplasminaemia early in the course of
the
disease by structural and functional neuroimaging and correlated the
results
with the clinical findings.
The patient, a diabetic 59 year old lady, presented with peri{*filter*}
dyskinesia.
Magnetic resonance imaging (MRI) revealed massive iron accumulation
in
the basal ganglia, notably sparing the pallidum, and along the
cortical surface.
However, most of these structures had preserved metabolic activity as
evaluated
by fluorodeoxyglucose positron emission tomography (FDG-PET).
Voxel based analysis of FDG-PET data showed a significant
hypometabolism
only in the heads of the caudate nuclei.
Molecular genetic analysis revealed compound heterozygosity for two
null
mutations in the ceruloplasmin gene, a rather surprising finding for
a
very rare
recessive disease, suggesting that aceruloplasminaemia could be
somewhat
more frequent than is commonly thought and could therefore be
underdiagnosed.

Keywords: aceruloplasminaemia; iron metabolism; magnetic resonance
imaging; molecular genetics; positron emission tomography

Abbreviations: CT, computed tomography; DFO, desferioxamine; FDG-PET,
fluorodeoxyglucose positron emission tomography; GPI,
glycosylphosphatidylinositol; MRI, magnetic resonance imaging; PET,
positron emission tomography; PANK2, an isoform of pantothenate
kinase; PKAN, pantothenate kinase associated neurodegeneration

Who loves ya.
Tom

Jesus Was A Vegetarian!
http://www.***.com/

Man Is A Herbivore!
http://www.***.com/

DEAD PEOPLE WALKING
http://www.***.com/

But the important question is why there is iron overload.  In the
present case the bodies finely tuned process of controlling iron is
distorted by a genetic cause.  In many diseases excess iron results from
tissue damage which causes it to be freed from storage.  In which case
the iron is the effect not the cause of the disease.

In pursuit of your pre-imagined agenda you confuse and reverse this.

Response:

"No .. the important thing is to remove it ..

Don't you think the first .. thing .. would be to remove this iron .. ?"

If and only if it were contributing in a major way to the tissue injury
or genetic reason that caused the high iron levels.

Otherwise as it usually does, the body will once again put the iron back
in storage once tissuedamage is healed.

Higher iron levels following injury is an effect not a cause of the
injury.

 Higher iron levels following injury is an effect not a cause of the
injury. <<

Great .. and the diabetes that .. magically appeared ..
coincidentally .. WITH .. the increase of iron in no way gives any
credence to the presently funded and ongoing recruitment of iron
reduction in diabetes ..

Not at all ..

Does it ..

Nope ..

Not one little bit ..

Coincidence ..

Actually around here .. in these groups .. THAT is not
contributory ..

YOU ..**know** the above association and FAIL to acknowledge that
little fact ..

Don't ya ..

You already know .. they .. have ALREADY made that association and
YET .. ?

You attempt to belittle the association to the specific DETRIMENT of
any of those who
may be following this thread ..

That is precisely what you are attempting and have done ..

Isn't it .. boi ...

You remind me of an .. atheist .. or coincidentally .. a predator ..

They both exhibit that nature .. don't ya ..

This article in a series of articles evidence the relationship
between different diseases and the consequences of iron in excess
in the different organs.
In the human body this increased iron is associated with diabetes
and neurodegeneration ataxia and dementia.
For those of you with dementia .. I .. forgot what I was saying ..

"Parenchymal and reticuloendothelial iron overload"
"Diabetes and progressive neurodegeneration with extrapyramidal
disorders, ataxia, and dementia."
"Aceruloplasminaemia could be underdiagnosed"
"Iron accumulation in aceruloplasminemia is more extensive than
previously believed"

American Journal of Neuroradiology 26:657-661, March 2005
? 2005 American Society of Neuroradiology

Case Report
BRAIN
MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia
Marina Grisolia, Alberto Pipernob, Luisa Chiapparinia, Raffaella
Marianib and Mario Savoiardoa
a Department of Neuroradiology, Istituto Nazionale Neurologico C.
Besta, Milano
b Department of Clinical Medicine, Azienda Ospedaliera San Gerardo,
Universit Milano-Bicocca, Monza, Italy

Address reprint requests to M. Grisoli, MD, Department of
Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria
11, 20133 Milano, Italy

Summary:
Aceruloplasminemia is a rare autosomal recessive disorder.
The lack of ceruloplasmin ferroxidase activity leads to parenchymal
and reticuloendothelial iron overload, resulting in diabetes and
progressive neurodegeneration with extrapyramidal disorders,
ataxia, and dementia.
We describe the MR imaging findings in a 40-year-old woman with
hereditary aceruloplasminemia.
The abnormal T2 hypointensities were more marked than those
seen in any other condition, including degenerative disorders of the
basal ganglia and Wilson disease, and they may be typical of
aceruloplasminemia.
To our knowledge, involvement of the cortex has not been described
and suggests that brain iron accumulation in aceruloplasminemia
is more extensive than previously believed, even in asymptomatic
patients.

----------------

Journal of Neurology Neurosurgery and Psychiatry 2004;75:334-337
? 2004 BMJ Publishing Group Ltd
SHORT REPORT
Clinical, molecular, and pet study of a case of aceruloplasminaemia
presenting with focal cranial dyskinesia
I Haemers1, S Kono3, S Goldman2, J D Gitlin3 and M Pandolfo1

1 Department of Neurology, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
2 PET/Biomedical Cyclotron Unit, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
3 Department of Pediatrics, Washington University School of Medicine,
St Louis, Missouri

Correspondence to:
Correspondence to:
Dr M Pandolfo
Service de Neurologie, H?pital Erasme, Route de Lennik 808, 1070

ABSTRACT

Aceruloplasminaemia is a rare recessive disorder caused by mutations
in
the gene encoding the multicopper ferroxidase ceruloplasmin, thought
to be
involved in cellular iron export.
Primary intracellular iron accumulation characterises this disorder.
We investigated a case of aceruloplasminaemia early in the course of
the
disease by structural and functional neuroimaging and correlated the
results
with the clinical findings.
The patient, a diabetic 59 year old lady, presented with peri{*filter*}
dyskinesia.
Magnetic resonance imaging (MRI) revealed massive iron accumulation
in
the basal ganglia, notably sparing the pallidum, and along the
cortical surface.
However, most of these structures had preserved metabolic activity as
evaluated
by fluorodeoxyglucose positron emission tomography (FDG-PET).
Voxel based analysis of FDG-PET data showed a significant
hypometabolism
only in the heads of the caudate nuclei.
Molecular genetic analysis revealed compound heterozygosity for two
null
mutations in the ceruloplasmin gene, a rather surprising finding for
a
very rare
recessive disease, suggesting that aceruloplasminaemia could be
somewhat
more frequent than is commonly thought and could therefore be
underdiagnosed.

Keywords: aceruloplasminaemia; iron metabolism; magnetic resonance
imaging; molecular genetics; positron emission tomography

Abbreviations: CT, computed tomography; DFO, desferioxamine; FDG-PET,
fluorodeoxyglucose positron emission tomography; GPI,
glycosylphosphatidylinositol; MRI, magnetic resonance imaging; PET,
positron emission tomography; PANK2, an isoform of pantothenate
kinase; PKAN, pantothenate kinase associated neurodegeneration

Who loves ya.
Tom

Jesus Was A Vegetarian!
http://www.***.com/

Man Is A Herbivore!
http://www.***.com/

DEAD PEOPLE WALKING
http://www.***.com/

Who feeds such obsessive characters? Who controls them?

Who pays them...?

--
                          Das Schrotgewehr Gottes

                 http://www.ariplex.com/ama/ama_gott.htm

snip
<<

Getriebes .. verbotten ..

Ich bin traurig, dass Fleischfresser nicht geh?rt werden k?nnen
ber dem Ton von, wie ehrfrchtig ich bin.

This article in a series of articles evidence the relationship
between different diseases and the consequences of iron in excess
in the different organs.
In the human body this increased iron is associated with diabetes
and neurodegeneration ataxia and dementia.
For those of you with dementia .. I .. forgot what I was saying ..

"Parenchymal and reticuloendothelial iron overload"
"Diabetes and progressive neurodegeneration with extrapyramidal
disorders, ataxia, and dementia."
"Aceruloplasminaemia could be underdiagnosed"
"Iron accumulation in aceruloplasminemia is more extensive than
previously believed"

American Journal of Neuroradiology 26:657-661, March 2005
? 2005 American Society of Neuroradiology

Case Report
BRAIN
MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia
Marina Grisolia, Alberto Pipernob, Luisa Chiapparinia, Raffaella
Marianib and Mario Savoiardoa
a Department of Neuroradiology, Istituto Nazionale Neurologico C.
Besta, Milano
b Department of Clinical Medicine, Azienda Ospedaliera San Gerardo,
Universit Milano-Bicocca, Monza, Italy

Address reprint requests to M. Grisoli, MD, Department of
Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria
11, 20133 Milano, Italy

Summary:
Aceruloplasminemia is a rare autosomal recessive disorder.
The lack of ceruloplasmin ferroxidase activity leads to parenchymal
and reticuloendothelial iron overload, resulting in diabetes and
progressive neurodegeneration with extrapyramidal disorders,
ataxia, and dementia.
We describe the MR imaging findings in a 40-year-old woman with
hereditary aceruloplasminemia.
The abnormal T2 hypointensities were more marked than those
seen in any other condition, including degenerative disorders of the
basal ganglia and Wilson disease, and they may be typical of
aceruloplasminemia.
To our knowledge, involvement of the cortex has not been described
and suggests that brain iron accumulation in aceruloplasminemia
is more extensive than previously believed, even in asymptomatic
patients.

----------------

Journal of Neurology Neurosurgery and Psychiatry 2004;75:334-337
? 2004 BMJ Publishing Group Ltd
SHORT REPORT
Clinical, molecular, and pet study of a case of aceruloplasminaemia
presenting with focal cranial dyskinesia
I Haemers1, S Kono3, S Goldman2, J D Gitlin3 and M Pandolfo1

1 Department of Neurology, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
2 PET/Biomedical Cyclotron Unit, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
3 Department of Pediatrics, Washington University School of Medicine,
St Louis, Missouri

Correspondence to:
Correspondence to:
Dr M Pandolfo
Service de Neurologie, H?pital Erasme, Route de Lennik 808, 1070

ABSTRACT

Aceruloplasminaemia is a rare recessive disorder caused by mutations
in
the gene encoding the multicopper ferroxidase ceruloplasmin, thought
to be
involved in cellular iron export.
Primary intracellular iron accumulation characterises this disorder.
We investigated a case of aceruloplasminaemia early in the course of
the
disease by structural and functional neuroimaging and correlated the
results
with the clinical findings.
The patient, a diabetic 59 year old lady, presented with peri{*filter*}
dyskinesia.
Magnetic resonance imaging (MRI) revealed massive iron accumulation
in
the basal ganglia, notably sparing the pallidum, and along the
cortical surface.
However, most of these structures had preserved metabolic activity as
evaluated
by fluorodeoxyglucose positron emission tomography (FDG-PET).
Voxel based analysis of FDG-PET data showed a significant
hypometabolism
only in the heads of the caudate nuclei.
Molecular genetic analysis revealed compound heterozygosity for two
null
mutations in the ceruloplasmin gene, a rather surprising finding for
a
very rare
recessive disease, suggesting that aceruloplasminaemia could be
somewhat
more frequent than is commonly thought and could therefore be
underdiagnosed.

Keywords: aceruloplasminaemia; iron metabolism; magnetic resonance
imaging; molecular genetics; positron emission tomography

Abbreviations: CT, computed tomography; DFO, desferioxamine; FDG-PET,
fluorodeoxyglucose positron emission tomography; GPI,
glycosylphosphatidylinositol; MRI, magnetic resonance imaging; PET,
positron emission tomography; PANK2, an isoform of pantothenate
kinase; PKAN, pantothenate kinase associated neurodegeneration

Who loves ya.
Tom

Jesus Was A Vegetarian!
http://www.***.com/

Man Is A Herbivore!
http://www.***.com/

DEAD PEOPLE WALKING
http://www.***.com/

Oh, you better read the bible about "forbidden"...

   Gott nimmt Rache an K nig Joram und Isebel
   (2. Buch von den K nigen, Kap. 9)

   "Wieder mal nahm Jahwe Rache,
   Jehu oblag diese Sache:
   'T te doch ganz schnell
   Joram und auch Isebel!'"

--
                Schwerer Pfusch Arzneimittelpr fung

               http://www.ariplex.com/ama/ama_amp.htm

Posted by Rusty the Spamming {*filter*}wadd

snip
<<

Getriebes .. verbotten ..

Ich bin traurig, dass Fleischfresser nicht geh?rt werden k?nnen
ber dem Ton von, wie ehrfrchtig ich bin.

This article in a series of articles evidence the relationship
between different diseases and the consequences of iron in excess
in the different organs.
In the human body this increased iron is associated with diabetes
and neurodegeneration ataxia and dementia.
For those of you with dementia .. I .. forgot what I was saying ..

"Parenchymal and reticuloendothelial iron overload"
"Diabetes and progressive neurodegeneration with extrapyramidal
disorders, ataxia, and dementia."
"Aceruloplasminaemia could be underdiagnosed"
"Iron accumulation in aceruloplasminemia is more extensive than
previously believed"

American Journal of Neuroradiology 26:657-661, March 2005
? 2005 American Society of Neuroradiology

Case Report
BRAIN
MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia
Marina Grisolia, Alberto Pipernob, Luisa Chiapparinia, Raffaella
Marianib and Mario Savoiardoa
a Department of Neuroradiology, Istituto Nazionale Neurologico C.
Besta, Milano
b Department of Clinical Medicine, Azienda Ospedaliera San Gerardo,
Universit Milano-Bicocca, Monza, Italy

Address reprint requests to M. Grisoli, MD, Department of
Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria
11, 20133 Milano, Italy

Summary:
Aceruloplasminemia is a rare autosomal recessive disorder.
The lack of ceruloplasmin ferroxidase activity leads to parenchymal
and reticuloendothelial iron overload, resulting in diabetes and
progressive neurodegeneration with extrapyramidal disorders,
ataxia, and dementia.
We describe the MR imaging findings in a 40-year-old woman with
hereditary aceruloplasminemia.
The abnormal T2 hypointensities were more marked than those
seen in any other condition, including degenerative disorders of the
basal ganglia and Wilson disease, and they may be typical of
aceruloplasminemia.
To our knowledge, involvement of the cortex has not been described
and suggests that brain iron accumulation in aceruloplasminemia
is more extensive than previously believed, even in asymptomatic
patients.

----------------

Journal of Neurology Neurosurgery and Psychiatry 2004;75:334-337
? 2004 BMJ Publishing Group Ltd
SHORT REPORT
Clinical, molecular, and pet study of a case of aceruloplasminaemia
presenting with focal cranial dyskinesia
I Haemers1, S Kono3, S Goldman2, J D Gitlin3 and M Pandolfo1

1 Department of Neurology, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
2 PET/Biomedical Cyclotron Unit, H?pital Erasme, Universit Libre de
Bruxelles, Brussels, Belgium
3 Department of Pediatrics, Washington University School of Medicine,
St Louis, Missouri

Correspondence to:
Correspondence to:
Dr M Pandolfo
Service de Neurologie, H?pital Erasme, Route de Lennik 808, 1070

ABSTRACT

Aceruloplasminaemia is a rare recessive disorder caused by mutations
in
the gene encoding the multicopper ferroxidase ceruloplasmin, thought
to be
involved in cellular iron export.
Primary intracellular iron accumulation characterises this disorder.
We investigated a case of aceruloplasminaemia early in the course of
the
disease by structural and functional neuroimaging and correlated the
results
with the clinical findings.
The patient, a diabetic 59 year old lady, presented with peri{*filter*}
dyskinesia.
Magnetic resonance imaging (MRI) revealed massive iron accumulation
in
the basal ganglia, notably sparing the pallidum, and along the
cortical surface.
However, most of these structures had preserved metabolic activity as
evaluated
by fluorodeoxyglucose positron emission tomography (FDG-PET).
Voxel based analysis of FDG-PET data showed a significant
hypometabolism
only in the heads of the caudate nuclei.
Molecular genetic analysis revealed compound heterozygosity for two
null
mutations in the ceruloplasmin gene, a rather surprising finding for
a
very rare
recessive disease, suggesting that aceruloplasminaemia could be
somewhat
more frequent than is commonly thought and could therefore be
underdiagnosed.

Keywords: aceruloplasminaemia; iron metabolism; magnetic resonance
imaging; molecular genetics; positron emission tomography

Abbreviations: CT, computed tomography; DFO, desferioxamine; FDG-PET,
fluorodeoxyglucose positron emission tomography; GPI,
glycosylphosphatidylinositol; MRI, magnetic resonance imaging; PET,
positron emission tomography; PANK2, an isoform of pantothenate
kinase; PKAN, pantothenate kinase associated neurodegeneration

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