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My mother has had the following MRI result (she has

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Posted on Mon, 4 Feb 2019
Question: My mother has had the following MRI result (she has just turned 55 years old) - "severe symmetrical cerebellar atrophy with minor midbrain and pontine atophy but not in proportion to the severe degree of cerebellar atrophy without an obvious cause demonstrated". What does this mean in terms of a diagnosis? I understand this is more likely to be a finding rather than a diagnosis, but I would like to understand what it could mean (i'm guessing she would need further testing e.g. scans and blood tests). The neurologist who referred for this Brain MRI said she scored well in MMSE/MOCA and Addenbrook Cognitive testing, alnd all he could find slightly abnormal on examination was a clumsiness in co-ordination. Many thanks for your help in advance.
                                                       
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Follow up: Dr. Olsi Taka (0 minute later)
My mother has had the following MRI result (she has just turned 55 years old) - "severe symmetrical cerebellar atrophy with minor midbrain and pontine atophy but not in proportion to the severe degree of cerebellar atrophy without an obvious cause demonstrated". What does this mean in terms of a diagnosis? I understand this is more likely to be a finding rather than a diagnosis, but I would like to understand what it could mean (i'm guessing she would need further testing e.g. scans and blood tests). The neurologist who referred for this Brain MRI said she scored well in MMSE/MOCA and Addenbrook Cognitive testing, alnd all he could find slightly abnormal on examination was a clumsiness in co-ordination. Many thanks for your help in advance.
                                                       
doctor
Answered by Dr. Olsi Taka (2 hours later)
Brief Answer:
Several possibilities, paraneoplastic syndrome included.

Detailed Answer:
Hello and welcome to HealthcareMagic! I read your question carefully and I understand your concern.

That MRI report describes marked shrinking (atrophy) of the cerebellum, the so called little brain. Some brain shrinking takes place in all of us with age as we progressively lose brain cells, but in this case it is too much to be justified by age and also not proportionally to other parts of the brain.
Unfortunately the MRI alone can't say the cause, no evident cause such as prior brain hemorrhage or infection described. So there can be several causes which as you guessed might require more tests. Some of the possibilities to consider would be:
Nutritional deficiencies like thiamine deficiency usually related to chronic alcohol abuse would be one possible cause.
Lithium medication, phenytoin medication, radiation or chemotherapy in the past would be another possibility.
Thyroid deficiency is something else to be excluded.
There are a group of genetic conditions called spinocerebellar ataxias but usually there is a family history and manifest earlier in life. The same applies to other genetic conditions like ataxia-teleangiectasia.
Multiple system atrophy (MSA) is a degenerative condition to be considered, it includes other symptoms like parkinsonism so physical neurological exam is the most important diagnostic tool.
Last (but not least) there would be paraneoplastic syndromes. Cerebellar degeneration is a common form of paraneoplastic syndrome. A paraneoplastic syndrome is a group of symptoms and signs which are due to a cancer in the body, but elsewhere, not due to the direct effect of the cancer cells but due to changes in other systems, in this case an abnormal immune response leading to production of autoimmune antibodies attacking cerebellum cells. It may manifest in the absence of an evident cancer even after imaging investigations. So I think unless there is a clear cause among the ones above (like alcohol abuse or MSA), this would be the an important hypothesis to consider by testing for these antibodies (anti-Yo and anti-Hu antibodies being the most commonly encountered ones).

I remain at your disposal for other questions.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
doctor
Answered by Dr. Olsi Taka (0 minute later)
Brief Answer:
Several possibilities, paraneoplastic syndrome included.

Detailed Answer:
Hello and welcome to HealthcareMagic! I read your question carefully and I understand your concern.

That MRI report describes marked shrinking (atrophy) of the cerebellum, the so called little brain. Some brain shrinking takes place in all of us with age as we progressively lose brain cells, but in this case it is too much to be justified by age and also not proportionally to other parts of the brain.
Unfortunately the MRI alone can't say the cause, no evident cause such as prior brain hemorrhage or infection described. So there can be several causes which as you guessed might require more tests. Some of the possibilities to consider would be:
Nutritional deficiencies like thiamine deficiency usually related to chronic alcohol abuse would be one possible cause.
Lithium medication, phenytoin medication, radiation or chemotherapy in the past would be another possibility.
Thyroid deficiency is something else to be excluded.
There are a group of genetic conditions called spinocerebellar ataxias but usually there is a family history and manifest earlier in life. The same applies to other genetic conditions like ataxia-teleangiectasia.
Multiple system atrophy (MSA) is a degenerative condition to be considered, it includes other symptoms like parkinsonism so physical neurological exam is the most important diagnostic tool.
Last (but not least) there would be paraneoplastic syndromes. Cerebellar degeneration is a common form of paraneoplastic syndrome. A paraneoplastic syndrome is a group of symptoms and signs which are due to a cancer in the body, but elsewhere, not due to the direct effect of the cancer cells but due to changes in other systems, in this case an abnormal immune response leading to production of autoimmune antibodies attacking cerebellum cells. It may manifest in the absence of an evident cancer even after imaging investigations. So I think unless there is a clear cause among the ones above (like alcohol abuse or MSA), this would be the an important hypothesis to consider by testing for these antibodies (anti-Yo and anti-Hu antibodies being the most commonly encountered ones).

I remain at your disposal for other questions.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Olsi Taka (12 hours later)
Dear Dr Taka, thank you for your prompt reply.
Firstly, there is no history of alcohol and drug abuse. In actual fact she hardly drinks alcohol. The only medication she takes is Losartan 100mg OD and a multi vitamin B compound for Essential Hypertension. Her BP is well controlled. As for family history, there haven't been any "official" diagnoses but our mothers "odd" behaviour is very similar to her own mothers. Unfortunately they are in France and we do not have access to any medical records. However, the majority of her 1st line relatives are being treated for mental health conditions e.g. depression, anxiety and personality disorder. Apart from our mothers hypertension, the only other health conditions she has had are a significant Kyphosis and CIN2 in 1995 for which she was treated at Colposcopy for. We have only been recently in contact with our mother having not seen her for ~3years so maybe her "symptoms" started quite some time ago. She has had some basic blood tests recently including FBC/TSH/B12/D/FOLATE/C*E/LFT and the like which were all normal.
What further testing e.g scans/bloods ?lumbar puncture do you advise that she has going forward to rule out the above mentioned causes. Many thanks.
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Follow up: Dr. Olsi Taka (0 minute later)
Dear Dr Taka, thank you for your prompt reply.
Firstly, there is no history of alcohol and drug abuse. In actual fact she hardly drinks alcohol. The only medication she takes is Losartan 100mg OD and a multi vitamin B compound for Essential Hypertension. Her BP is well controlled. As for family history, there haven't been any "official" diagnoses but our mothers "odd" behaviour is very similar to her own mothers. Unfortunately they are in France and we do not have access to any medical records. However, the majority of her 1st line relatives are being treated for mental health conditions e.g. depression, anxiety and personality disorder. Apart from our mothers hypertension, the only other health conditions she has had are a significant Kyphosis and CIN2 in 1995 for which she was treated at Colposcopy for. We have only been recently in contact with our mother having not seen her for ~3years so maybe her "symptoms" started quite some time ago. She has had some basic blood tests recently including FBC/TSH/B12/D/FOLATE/C*E/LFT and the like which were all normal.
What further testing e.g scans/bloods ?lumbar puncture do you advise that she has going forward to rule out the above mentioned causes. Many thanks.
doctor
Answered by Dr. Olsi Taka (9 hours later)
Brief Answer:
Read below

Detailed Answer:
Thank you for the additional information and sorry for answering a little late.

The info you provide does exclude the first possibilities I mentioned, alcohol use, past therapy and low thyroid function. Some other blood tests routinely done would include testing levels of vitamin B1, E, erythrocyte sedimentation rate, c reactive protein, antinuclear antibodies, rapid plasma reagin test (for syphilis), but most likely they will turn out normal.

So that leaves us with the possibilities of genetic conditions like spinocerebellar ataxia (which is a group of conditions), multiple system atrophy (MSA) and paraneoplastic cerebellar degeneration.
For MSA as I said before the diagnosis is mainly clinical. If the neurologist doesn't observe additional parkinsonian or autonomous manifestations in his exam then it may be ruled out without the need for other tests.

Tests I would prescribe first next would be for paraneoplastic degeneration through a paraneoplastic antibody panel, searching for anti-neuronal antibodies in the blood and the cerebrospinal fluid (so yes a spinal tap would be prescribed).
According to the type of autoantibodies found further imaging tests like chest and abdomen CT scan, gynecologic exam might be needed to search for a primary tumor when tests are positive for such autoimmune antibodies (type of antibody found .

If on the other hand tests are negative and that diagnosis is excluded I would then go ahead to search for spinocerebellar ataxias (SCA), while usually they manifest earlier in life there are some late onset types. For that purpose there is a genetic ataxia blood test which tests for genetic mutations corresponding to 12 types of SCA. If still unclear (there are SCA types not identifiable by that test) a spinal MRI may be needed.

Let me know if I can further assist you.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
doctor
Answered by Dr. Olsi Taka (0 minute later)
Brief Answer:
Read below

Detailed Answer:
Thank you for the additional information and sorry for answering a little late.

The info you provide does exclude the first possibilities I mentioned, alcohol use, past therapy and low thyroid function. Some other blood tests routinely done would include testing levels of vitamin B1, E, erythrocyte sedimentation rate, c reactive protein, antinuclear antibodies, rapid plasma reagin test (for syphilis), but most likely they will turn out normal.

So that leaves us with the possibilities of genetic conditions like spinocerebellar ataxia (which is a group of conditions), multiple system atrophy (MSA) and paraneoplastic cerebellar degeneration.
For MSA as I said before the diagnosis is mainly clinical. If the neurologist doesn't observe additional parkinsonian or autonomous manifestations in his exam then it may be ruled out without the need for other tests.

Tests I would prescribe first next would be for paraneoplastic degeneration through a paraneoplastic antibody panel, searching for anti-neuronal antibodies in the blood and the cerebrospinal fluid (so yes a spinal tap would be prescribed).
According to the type of autoantibodies found further imaging tests like chest and abdomen CT scan, gynecologic exam might be needed to search for a primary tumor when tests are positive for such autoimmune antibodies (type of antibody found .

If on the other hand tests are negative and that diagnosis is excluded I would then go ahead to search for spinocerebellar ataxias (SCA), while usually they manifest earlier in life there are some late onset types. For that purpose there is a genetic ataxia blood test which tests for genetic mutations corresponding to 12 types of SCA. If still unclear (there are SCA types not identifiable by that test) a spinal MRI may be needed.

Let me know if I can further assist you.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Olsi Taka (14 hours later)
Hi, I forgot to say that in her general bloodwork, her glucose was normal, but her CRP was marginally raised at 7.9. Her CRP has subsequently been repeated but came back raised at >70 (but at the time was suffering with an influenza like illness with a raised temperature).

I have attached the Neuro outpatient letter from our 1st appointment for further comment (at first, the impression was frontal lobe damage, however the MRI finding has now ruled this out). Her follow-up will be in 2months.

Presumably if she is ultimately diagnosed with SCA, would we, her children (there is 3 of us) benefit from genetic testing too? What are the chances we have inherited SCA from her? Also, am I'm not sure if you can answer this - what is the prognosis for someone diagnosed with SCA (I understand there is many types) and what about Paraneoplastic cerebellar degeneration?

As of yesterday, our mother is now in the system for a lumbar puncture appointment and "repeat imaging". - The letter does not refer to which type of brain scan she will have having. Will this be a repeat MRI or will she have another type of scan? e.g. PET (as the OPD letter attached suggests?)

Apologies for lots of questions, I have so many as there are lots of uncertainties.
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Follow up: Dr. Olsi Taka (0 minute later)
Hi, I forgot to say that in her general bloodwork, her glucose was normal, but her CRP was marginally raised at 7.9. Her CRP has subsequently been repeated but came back raised at >70 (but at the time was suffering with an influenza like illness with a raised temperature).

I have attached the Neuro outpatient letter from our 1st appointment for further comment (at first, the impression was frontal lobe damage, however the MRI finding has now ruled this out). Her follow-up will be in 2months.

Presumably if she is ultimately diagnosed with SCA, would we, her children (there is 3 of us) benefit from genetic testing too? What are the chances we have inherited SCA from her? Also, am I'm not sure if you can answer this - what is the prognosis for someone diagnosed with SCA (I understand there is many types) and what about Paraneoplastic cerebellar degeneration?

As of yesterday, our mother is now in the system for a lumbar puncture appointment and "repeat imaging". - The letter does not refer to which type of brain scan she will have having. Will this be a repeat MRI or will she have another type of scan? e.g. PET (as the OPD letter attached suggests?)

Apologies for lots of questions, I have so many as there are lots of uncertainties.
doctor
Answered by Dr. Olsi Taka (11 hours later)
Brief Answer:
Read below.

Detailed Answer:
Hello again!

I don't think that CRP value alone is significant, not unless there are other associated anomalies in the other tests, the infection you mentioned should be the cause.

I am afraid there is not a clear cut answer for many of your other queries.
Whether family members benefit from genetic testing for SCA depends on whether a responsible mutation is identified in your mother in the first place. While mutations for many SCA forms are now known, there are still forms where the diagnosis is only clinical, the responsible gene hasn't been identified yet, as a result can't be tested for in family members.
Chances you inherited it also depend on the type of inheritance, mutations can be inherited in different fashions, for autosomal dominant forms there is a 50% chance. The prognosis depends on the type as well.
I would like to stress that SCA would not be a likely diagnosis in my opinion. Apart from an earlier onset and family history I mentioned, after reading the evaluation report you provided I would consider it even less likely as usually there are other signs on neurological exam which the examiner hasn't found.

As for the prognosis of paraneoplastic origin, the prognosis depends on the primary tumor and the type of responsible autoantibodies. If primary tumor can be identified and treated through surgery, chemo/radiotherapy and the antibodies act on neural cell surface than patients respond well to immunotherapy. When antibodies act on components inside the cell they do not respond well to therapy and naturally when the primary cancer is not treatable prognosis is bad as well.

Regarding imaging, I think probably they refer to another MRI, they might want to do an MRI with contrast, in the report contrast administration is not mentioned. PET scan may be done at a later stage.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
doctor
Answered by Dr. Olsi Taka (0 minute later)
Brief Answer:
Read below.

Detailed Answer:
Hello again!

I don't think that CRP value alone is significant, not unless there are other associated anomalies in the other tests, the infection you mentioned should be the cause.

I am afraid there is not a clear cut answer for many of your other queries.
Whether family members benefit from genetic testing for SCA depends on whether a responsible mutation is identified in your mother in the first place. While mutations for many SCA forms are now known, there are still forms where the diagnosis is only clinical, the responsible gene hasn't been identified yet, as a result can't be tested for in family members.
Chances you inherited it also depend on the type of inheritance, mutations can be inherited in different fashions, for autosomal dominant forms there is a 50% chance. The prognosis depends on the type as well.
I would like to stress that SCA would not be a likely diagnosis in my opinion. Apart from an earlier onset and family history I mentioned, after reading the evaluation report you provided I would consider it even less likely as usually there are other signs on neurological exam which the examiner hasn't found.

As for the prognosis of paraneoplastic origin, the prognosis depends on the primary tumor and the type of responsible autoantibodies. If primary tumor can be identified and treated through surgery, chemo/radiotherapy and the antibodies act on neural cell surface than patients respond well to immunotherapy. When antibodies act on components inside the cell they do not respond well to therapy and naturally when the primary cancer is not treatable prognosis is bad as well.

Regarding imaging, I think probably they refer to another MRI, they might want to do an MRI with contrast, in the report contrast administration is not mentioned. PET scan may be done at a later stage.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Olsi Taka (2 days later)
That’s helpful. Thanks for all your advice. We have got a neurologist appointment where I will take our conversation and possible diagnoses forward for further discussion. What I guess I wanted to know is could this finding in isolation not indicate a problem and be an incidental finding, as the potential diagnoses you have suggested are life-changing/ life limiting (increase in mortality risk) from what I have read up and understood.
default
Follow up: Dr. Olsi Taka (0 minute later)
That’s helpful. Thanks for all your advice. We have got a neurologist appointment where I will take our conversation and possible diagnoses forward for further discussion. What I guess I wanted to know is could this finding in isolation not indicate a problem and be an incidental finding, as the potential diagnoses you have suggested are life-changing/ life limiting (increase in mortality risk) from what I have read up and understood.
doctor
Answered by Dr. Olsi Taka (17 minutes later)
Brief Answer:
Read below.

Detailed Answer:
Hello again! I understand what you mean now.

Whether it is possible that all tests are done and nothing of the above causes is found, remaining simply with a descriptive diagnosis of cerebellar atrophy, without a an indentifiable cause to suggest shortened lifespan....yes it is possible. There are cases where no cause is found, where there may be genetic and/or environmental factors yet unknown, hence not facilitating a prediction for the future. Every day new mutations or risk factors are found, but still many cases remain uncategorized. It could be the case of your mother. In that case only periodic follow-up visits will be done. However before that investigations to exclude other identifiable causes are necessary as we discussed.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
doctor
Answered by Dr. Olsi Taka (0 minute later)
Brief Answer:
Read below.

Detailed Answer:
Hello again! I understand what you mean now.

Whether it is possible that all tests are done and nothing of the above causes is found, remaining simply with a descriptive diagnosis of cerebellar atrophy, without a an indentifiable cause to suggest shortened lifespan....yes it is possible. There are cases where no cause is found, where there may be genetic and/or environmental factors yet unknown, hence not facilitating a prediction for the future. Every day new mutations or risk factors are found, but still many cases remain uncategorized. It could be the case of your mother. In that case only periodic follow-up visits will be done. However before that investigations to exclude other identifiable causes are necessary as we discussed.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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My mother has had the following MRI result (she has

My mother has had the following MRI result (she has just turned 55 years old) - "severe symmetrical cerebellar atrophy with minor midbrain and pontine atophy but not in proportion to the severe degree of cerebellar atrophy without an obvious cause demonstrated". What does this mean in terms of a diagnosis? I understand this is more likely to be a finding rather than a diagnosis, but I would like to understand what it could mean (i'm guessing she would need further testing e.g. scans and blood tests). The neurologist who referred for this Brain MRI said she scored well in MMSE/MOCA and Addenbrook Cognitive testing, alnd all he could find slightly abnormal on examination was a clumsiness in co-ordination. Many thanks for your help in advance.