Neurological Diseases - Science topic

Because of some autosomal dominant & others can be autosomal recessive

Dear Sagar Nanaso Salunkhe, thank you very much for your detailed answers!

It is necessary to determine the disease, and only then study its main clinical features, features of the results of instrumental and laboratory research methods, as well as genetic features.

Desminopathy, also known as desmin-related myopathy (DRM), is a rare genetic muscle disorder that affects the protein desmin. Desmin is an essential component of the intermediate filaments that provide structural support within muscle cells. Mutations in the DES gene, which codes for desmin, lead to disruptions in the normal structure and function of muscle fibers.

The muscles you mentioned - Semitendinosus, Gracilis, and Sartorius - are often affected at the onset of desminopathy due to their specific characteristics and biomechanical roles.

1. Semitendinosus: The semitendinosus is one of the three hamstring muscles located in the back of the thigh. It plays a key role in knee flexion and hip extension. The semitendinosus muscle is frequently involved in desminopathy due to its high proportion of slow-twitch muscle fibers, which are more vulnerable to desmin-related abnormalities.

2. Gracilis: The gracilis muscle is a long, thin muscle located in the inner thigh region. It is involved in hip adduction and knee flexion. Similar to the semitendinosus, the gracilis muscle also consists of a high proportion of slow-twitch muscle fibers, making it susceptible to desmin-related abnormalities.

3. Sartorius: The sartorius muscle is a long, strap-like muscle that runs diagonally across the front of the thigh. It plays a role in hip and knee flexion and also assists in thigh rotation. The sartorius muscle is affected in desminopathy due to its similar composition of slow-twitch muscle fibers.

The predilection for these specific muscles in desminopathy may be attributed to their fiber type composition and the mechanical stress they experience during certain movements. However, it is important to note that desminopathy can affect other muscles as well, and the degree and pattern of muscle involvement may vary among individuals with the same genetic mutation.

It is advised to consult with a medical professional or genetics specialist for a more accurate assessment of muscle involvement and management of desminopathy.

Your analogy is very interesting, dear colleague.

Although the main cause of any form of myofibrillar myopathy is a violation of the structure of the protein components of sarcomeres caused by genetic mutations, why not assume that due to mutations, the sensitivity of the postsynaptic membrane of myofibrils in myofibrillar myopathy to acetylcholine may also be impaired.

Dear Geir Bjorklund, Duc M. Hoang, John Hildyard, thank you very much for your answers and recommendations!

Both

Dear Mozhgan Norouzi, thank you very much for your reply!

Meaningless unless there is a result that requires the drug reaching the brain (or CNS), but still it is unclear whether it is the compound itself or a "derivative"

Worse: right now the FDA has not any protocol to assess (in humans) the efficacy of a drug as being neuroprotective

Hi Shruthi

I have in my past life heard/learnt at Vet school about dog condition similar to Duchenne muscular dystrophy reported in golden retrievers.

Duchenne muscular dystrophy (DMD) is neuro-muscular disease caused by a genetic problem in producing dystrophin, a protein that defends muscle fibers from breaking down when exposed to enzymes in muscles and particular regions of CNS. DMD occurs mostly in young males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and atrophy of both skeletal and heart muscle. Respiratory insufficiency contributes to morbidity of muscular dystrophy and, along with cardiomyopathy. In dogs, condition was originally reported in golden retrievers and termed golden retriever muscular dystrophy (GRMD).

Here you can read PMID: 33071066 about study performed on young dogs

Here is more about the disease PMID: 11834588

You may decide after all reading to check GRMD more closely, if there are studies showing comparison of young pups vs. older and how they are neurologically examined by Vets in the clinic. Hope this helps

Filip

Dear Dr Olga Schiopu,

I invite you to visite this link:

Best regards,

Pr Hambaba

The change in the level of uric acid and biochemical parameters in a patient with an identified case of desminopathy is presented in the article https://www.researchgate.net/publication/357311034_CHANGE_IN_REDOX_STATUS_AND_BIOCHEMICAL_PARAMETERS_IN_PATIENT_WITH_DESMINOPATHY_T341P_SEVERAL_YEARS_AFTER_DISEASE_SYMPTOMS_ONSET

Sure, COVID 19 can affect the brain. As we saw in our practice many patients with covid 19 had ischemic stroke, Encephalopathy. also I have 2 patients , the presenting features of coved 19 were Polymyositis, and 3 patients with GBS.

many individuals had post covid ischemic stroke

Thanks

Of course: YES !!. The Covid-19 coronavirus is neurotrophic, but -in addition- it is generating thousands of behavioral and psychopathological disorders due to the infinity of biopsychosocial problems that it is generating ... not to mention the so-called "pandemic fatigue" that the entire population is suffering. in general because of the "anti-Covid control" measures (confinements, border closures and perimeter closures of cities, time controls, curfews, etc.) that are influencing a lot and changing our lifestyles ... phobias are skyrocketing. , paranoid and catastrophic ideations, Post-Traumatic Stress Disorders -PTSD-, sleep problems and disorders, over-stress, anxiety, depression, pathological grief for the deceased, problems of schooling and socialization of children and a long etcetera (without going any further far, the Separations and Conflicts of Couple have increased in the West by 135%).

Also check https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551980/

Probably affect facial nerve and glossopharyngeal nerve in the pons and medulla oblongata?

I agree with Japneet Kaur. The problem in the cilia of olfactory sensory neurons. The myofibrilar myopathy is a genetic disease that associated with the primary ciliary dyskinesia. The primary ciliary dyskinesia resulted in defective cilia and olfactory receptors.

Attached, please find the article describing both myofibrilar myopathy and primary ciliary dyskinesia.

Dear Yosvany Castillo! Thank you very much for your answer. Over the past 2 years in this patient with desminopathy (Thr341Pro DES mutation in the heterozygous state), the C4 level of the complement component decreased to 0.36 g/l without taking medications.

.

I suggest reading this article-

Dinan TG, Cryan JF.The Microbiome-Gut-Brain Axis in Health and Disease. Gastroenterol Clin North Am. 2017 Mar;46(1):77-89. doi: 10.1016/j.gtc.2016.09.007. Epub 2017 Jan 4

The toothpaste may affect gut microbiota balance of the digestive tract thus affecting natural PH levels. The triclosan is proving s extremely aggressive. https://stm.sciencemag.org/content/10/443/eaan4116

Dear Ali Javadmanesh, Adrian Fierl, Abdulnabi Abdullamer Matruod, thank you very much for your answers!

Please go through the following PDF attachments.

Please take a look at the following PDF attachment.

I think the answer depends upon couple of factors

1. What is the country of residence ? Developed world usually have many options and facilitate the persons with disability. In the low resourced countries a person on wheelchair and restricted mobility might not have many options.

2. Educational level : many professional field require manual work and extensive moving. This might not be feasible for a person on wheelchair. But certain professions do not require too much mobility and can be performed on desk or in front of a computer screen

3. Motivation and Medical Condition: Depending upon the medical diagnosis, the person might not be able to do a job that demands prolonged sitting

Having said this all, there are exceptional people on wheelchair with major disability who have followed their dreams successfully and did wonders. e.g. Athletes in para-Olympics, Stephen Hawking, Christopher Reeve ( Superman) and others

I wish you the best

@ Iftikhar Ali

Please take a look at the following RG links and PDF attachments.

Thanks!

Dear Yojet,

As you have found, "gliosis" has a huge amount of background literature. Both the CNS axon regeneration field and the excitotoxicity/stroke field have used the neuron/astrocyte co-culture model in the past to try to understand the role of astrocytes in neuroprotection, so I suggest looking at some of the older literature in those fields.

One of the original culture models for excitotoxicity with which I am familiar was developed by Dennis W. Choi, and used cortical neurons & astrocytes in contact with each other (there are other models). More recent Transwell studies were used to try to understand the role of direct contact vs. secreted factors in toxicity and rescue, as well as the inhibition or promotion of axon outgrowth. I also suggest looking at publications from Ben Barres' lab regarding astrocyte function and neuronal survival.

Transwells are a great approach. However, one system used to culture primary neurons used feeder layers of glial cells, with the neurons cultured on glass coverslips that were inverted over the glia. Since the distance of the coverslips can be varied by the size of the paraffin dots that support the coverslips, if you are already culturing your neurons on glass, you might consider that method as a first approach. Details of that method can be found in the book Culturing Neuronal Cells that is edited by Banker & Goslin:

Good Luck!

Jill

There is much less on diet and progression of AD than on diet and the onset of AD. However, here are a couple of recent articles that you may find interesting and

Regards,

Simon Young

informative discussion.

Hi Satish,

Perhaps, you can use some non-invasive biomarkers to understand like MRI etc.

Thanks

Life style changes are also important for migraine management

Nazari, F., Safavi, M., & Mahmudi, M. (2010). Migraine and its relation with lifestyle in women. Pain Practice, 10(3), 228-234.

Dear Muneeb and Anne, many thanks for your answers and recommendations.

I am not very relative, but to the best of my knowledge IL-10 is the best antidote, similarly HemeOxygenase 1 can also be considered.

Dear Ramin

There are some evidences of autoimmune reaction after vaccination, and some researches showed its possible role in initiating the autoimmune response. But based on the exact mechanisms and pathology of MS there is no any relationship and similarity between Flu virus antigens and Myelin Basic Protein as objective protein in MS! EBV and Clamydia infections are mostly possible involved agents in triggering the autoimmune reactivity in multiple sclerosis! Hope it contains some information.

You may have a look to this Research topic in Frontiers

Successful therapies for Alzheimer’s disease: why so many in animal models and none in humans?

Also, there are difficulties in assessing neuroprotection; I mean that it is not easy to get a drug approved for neuroprotection. Wich parameters you may meassure and are approvable by FDA for neuroprotection?

Last but not least there is lack of money for clinical trials to test promising drugs but whose patent has been already finished and are generic. We tried to implment a clinical trial with patients to test an "old" drug that is safe and with excellent results in animal models and wer unable to find money.

To help facilitate attachment, cell spreading, growth, morphology, differentiation PDL or PLL are used. In histochemical applications both polymers of D- and L-lysine are used to coat slides to promote attachment of cells. i use astrocytes cell for cell viability test in 96 wells. i found my cells are easily attached to the cell well without PDL or PLL coating.

Check these pdfs for fundamentals

Go to: MBL weg servic, mouse atlases: mbl.org/mbt_main/atlas.html.

Making your own P21 mouse atlas in 10 steps. Succes. E.Marani

Asuragen recenty launched a PCR based assay for C9orf72 amplification. You can find more information here: http://asuragen.com/portfolio/genetics/amplidex-pcrce-c9orf72/

I am afraid that the question involves a confusion.  By stimulating certain areas of the brain you can give a subject a variety of experiences, including memory recall and pain.  But you are not transferring those experiences from anybody (or anywhere) else. You can also transfer genes into brains and give those brains new experiences.  For example, you can have mice experience colors that they could not experience before.  But I do not think it is possible to give some knowledge of specific words in a foreign language by transferring some cells.  First, being able to remember, understand, and use words involves many different and complex areas of the brain.  Such transplant would simply be impossible.  Second, even the attempt would be highly unethical since it would kill the donor.

Dear Tanuj,

It sounds that you should include two dummy atoms with a certain distance and connect them.

Rafik

For vision screening, it is usually done via a task more than a questionnaire, it is called visual search task, a simple task that is enough for visual screening, these 2 links are helpful:

To my knowledge, there is no link between diabetic neuropathy and central pain syndrome. Any patient with diabetes mellitus may, however, develop the central pain syndrome.

I have now an patient with an toral feotal attitude . The only respons is the push away othese that gives an decrease on tone in the whole body, She is lying on an firm matras with het best side to the wall.

When she lioes in this orthese she looks angry and push with there feet the orthesis away but when this movement occur the re face is ligthing and the tone decrease and here cognition is increase. No medication was given 

In this case there was the feeling of instabvility and that is no poain but fear !! 

It is too difficult for me to understand, but I liked the quote that Quantum.Fisher starts with, "“I can calculate the motion of heavenly bodies, but not the

madness of men” - Isaac Newton".  

Also, this author states that there is just one possible molecule involved "m processing - a neural qubit - while the phosphate ion is the only possible qubit-transporter" and further down states that some measurements might be repeated. Sounds like the theory might easily be falsified.

If so, and it would take a physicist to convince me, I would pay taxes to help him or her falsify because I am a bit shocked that so much seems not well understood.  I do not believe what I do not understand, but... I can imagine that someone would falsify whatever far fetched idea there is, and at low cost.

Hi Abdulhafeez,

Try to answer your question.. this patient is 13 old year boy, come with decreased of consciousness... No sign of immunocompromised before. he is totally well before this episode of encephalitis. CSF analysis is consistent with bacterial infection, and CSF culture yield bacillus cereus. This patient has a history of having porridge as a meal after swimming, then he got vomiting about 3 hours thereafter, followed by little bit fever. fever and vomiting continues for the next 2 or 3 days. After that, he got decreased of consciousness and admitted to hospital.

we conclude that bacillus cereus could be a significant pathogen in this case as he has a history of taking porridge (grain is commonly contaminated with this bacteria), has a history of vomiting and fever, then loss of consciousness. Analysis of CSF was also consistent with bacterial infection..

 so... what is your opinion? 

Hi Emmanuelle,

In my past research, I assessed both voluntary and reflex cough in acute stroke survivors (reflex cough induced through inhalation of nebulised capsaicin). In my group of participants there were also some who were unable to cough voluntarily, although they triggered a reflex cough with capsaicin.

As a point of interest, as the investigator instructing the person to cough, I found that demonstrating a 'theatrical' cough myself (i.e. exaggerating my body language, and bringing my hand/fist to my mouth as I coughed - as some people would do naturally) helped to support my verbal instructions, and perhaps eliminated an element of receptive dysphasia for some stroke survivors. For individuals who had difficulty performing a voluntary cough, I found that it sometimes also helped to prompt them to use their hand, as if they were covering their cough with an open hand or fist; or to prompt them to cough into a tissue - I suspect that this taps into a 'natural' movement pattern that supports the execution of a voluntary cough for someone with cough apraxia.

With respect to the term 'cough apraxia', I have not come across the term very often. Studies tend to describe the inability to execute a voluntary cough as one of a range of characteristics of bucco-facial apraxia or oral apraxia - as Jordi describes above -, and the ability to perform a voluntary cough is often part of testing for bucco-facial/oral apraxia. A cursory literature search for 'cough apraxia' will yield a number of case reports and case series from as far back as the 1960s, where inability to cough voluntarily has been observed and documented.

Carol Smith Hammond uses the term 'cough apraxia' in her review article from 2008 (doi: 10.1007/s00408-007-9064-4), and Stephanie Daniels and colleagues discuss 'apraxic cough' versus weak cough in their more recent publication from 2015 (doi: 10.1007/s00455-015-9638-x).

To my knowledge, there has not been much work investigating the neurophysiology of specifically cough apraxia - With increasing interest in neurogenic cough impairment, this could make for an interesting study.

I can suggest the cases of spastic paraparesis related to "tropical spastic paraparesis and human T lymphotropic virus I-associated myelopathy" and the rare instances of Chronic Neuroborelliosis mimicking ALS (Wien med. Wschr. 27: 1995: 186-188).

Best,

Marco Poloni

TLE is not a monolithic, homogenous entity. Seizures originating from the temporal lobe could be due to a calcified temporal lobe lesion, a focal cortical dysplasia, a gliotic scar, post encephalitic etiology (HSE), MTS etc. Not all seizures arising from the temporal lobe are difficult to control with anti seizure medication. In my experience, few patients do well on CBZ monotherapy or in combination with Clobazam.

Dear Noor, 

Check these papers out if they give you some idea:

Several answers:

1. Clinical mismatch between radiology and clinical impairment scores is well described, e.g. see Ebinger et al. Stroke. 2009;40:2572-2574.

2. Not all experimental interventions will be 'neuroprotective', i.e. reduce brain damage. Some will enhance recovery (i.e. plasticity rather than changing cell number), lead to regeneration (increase new cells) etc.

It will be nice if you can share some anonymous stories if possible.

Wrong question: MS is not a neurodegenerative Disease. A meaningful question could be: what have MS and neurodegenerative diseases in common?

There was one study published a couple of years ago from Mount Sinai in Newyork, elaborating on possible course modelling & disease modification via stem cells for schizophrenic patients. 

Hi,

Yeah, I have found a lot of reviews for baclofen and some for other GABAa and GABAb agonists/allosteric modulators. However, I am really bemused how reviews are suggesting certain pharmaceutical agents when there is no evidence of their effectiveness on the symptoms of CP in humans.

The other thing which I am finding quite frustrating is that nearly all the controlled trials focus on spasticity and not on ataxia. I understand that spasticity is very important when people are getting dressed or transferring from one seat to another but the ataxia is equally as difficult to cope with for the patient and their carers. I know that some tests touch on this, such as the PEDI and the GMFM but none of the drugs actually target the ataxia specifically and I really do not see why.

Does anyone have any ideas?

The study referenced below doesn't directly address the issue, but suggests that the so-called "delusions" of dementia are related to memory issues and can be related to reality whereas psychotic delusions cannot. It may at least give you some literature to help you formulate the question:

The meanings of delusions in dementia: A preliminary study.

doi: http://dx.doi.org/10.1016/j.psychres.2011.05.022

By Cohen-Mansfield, Jiska; Golander, Hava; Ben-Israel, Joshua; Garfinkel, Doron

Psychiatry Research, Vol 189(1), Aug 30 , 2011, 97-104.

One of the common symptoms of dementia is delusions. Due to a biological conceptualization of the behaviors represented as delusions, these are classified as psychotic symptoms. This is a qualitative and quantitative study aiming to describe the delusions experienced by older persons with dementia and the context of occurrence, and to elucidate their etiology. Participants were 74 nursing home residents aged 65 and over, diagnosed with dementia, from nine nursing homes in Israel. Participants with delusions were found to have significantly more difficulties in performing ADLs, and poorer vision and hearing. Based on assessment using the BEHAVE-AD, six categories of delusions were examined: 1. One's house is not one's home, 2. Theft, 3. Danger, 4. Abandonment, 5. Misidentification, and 6. Other non-paranoid. Common themes appeared across delusions including reality, disorientation, re-experience of past events, loneliness and insecurity, boredom, and trigger. Current results suggest that delusions may not represent psychotic symptoms for most participants, because they sometimes represented reality, or were neither firm nor incontrovertible. Thus, utilizing the term delusion relegates the person's behavior to the domain of severe psychiatric phenomena and precludes understanding its true meaning. (PsycINFO Database Record (c) 2014 APA, all rights reserved)

Another study hints at some similar issues:

Les relations entre mémoire autobiographique et self dans la schizophrénie: L’hypothèse d’une dysconnexion. / The relationships between autobiographical memory and the self in schizophrenia: The dysconnexion hypothesis.

By Berna, Fabrice; Potheegadoo, Jevita; Danion, Jean-Marie

Revue de Neuropsychologie, Neurosciences Cognitives et Cliniques, Vol 6(4), Oct-Dec 2014, 267-275.

Schizophrenia is a mental illness known to be associated with severe disorders of self. It is also characterized by cognitive impairment, which affects, in particular, executive functions and autobiographical memory. Our research work was based on the theoretical model put forward by Conway (2005), which posits reciprocal relationships between autobiographical memory and the self. Our results led us to the hypothesis of a dysconnexion between the self and autobiographical memories in schizophrenia. This dysconnexion would be the consequence of altered executive processes linked to the self, this affecting the balance between cognitive and affective processes. This dysconnexion may account for a global weakening of the phenomenological characteristics of autobiographical memories, a poorer integration of the memories, which are closely linked to the self, a deficient organization of autobiographical memory and the development and maintenance of persecutory delusions. These results led us to develop several therapeutic interventions, such as cognitive remediation methods aiming to reinforce the subjective experience associated with the recall of past events and psychotherapeutic programs aiming to reinforce the links between past personal events and the self. (PsycINFO Database Record (c) 2015 APA, all rights reserved)

Hi, but non of the publication did the acidic test.. if it is too acidic, mean we need to adjust the ph by adding NaOH? will it affect the fish?

Super! Thank You.

Thinking does not structurally harm the brain. Folia exist anatomically in the cerebellum, but relations to cognitive problems are rare. Unfortunately, the question is not precise enough to advice further in this context.

Resveratrol Stabilizes Amyloid in Alzheimer's

Pauline Anderson

| September 17, 2015  

9 comments

Print

Email

 

Editors' Recommendations

Oral Resveratrol Stabilizes Amyloid in Alzheimer's

Resveratrol Does Not Reduce CVD Risk, Prolong Life

Alzheimer's Disease News & Perspectives

My Alerts

You have already selected "Alzheimer's Disease" for My Alerts

 

 

High doses of purified resveratrol, a polyphenol found in some foods, appear to stabilize levels of amyloid beta (Aβ) in cerebrovascular fluid (CSF) and in plasma in patients with mild to moderate Alzheimer disease (AD) and are safe and well tolerated, a new phase 2 study has shown.

Although it is too soon to start recommending resveratrol supplements to patients, the research indicates that this compound is safe and is promising, lead author R. Scott Turner, MD, PhD, professor, Neurology, and director of the Memory Disorders Program, Georgetown University Medical Center, Washington, DC, one of 21 medical centers across the United States participating in the study.

"It seems to have some interesting effects, enough to justify further research into this strategy," he told Medscape Medical News.

The study was published online September 11 as an Open Access article in Neurology.

Hi Priscila maybe you can get someaditional information in Home Healthcare Nurse:

April 2008 - Volume 26 - Issue 4 - p 244–250 doi: 10.1097/01.NHH.0000316703.22633.79

INTERDISCIPLINARY Team Perspective

bw

Sorry, let me rephrase the last sentence.

Would you think the conclusive statements about Parkin or PINK1 gene status of these three patients are right? 

In children usually central cerebellar lesions result in bad gait dysfunction & trunkal ataxia. We have seen this with tumors & more strangely with post-viral cerebellitis as well. The more peripheral the lesion extends, the more chance it interfere with 4th cranial nerve nucleus pathway, that is why we see nystagmus, dizziness or autonomic manifestaions with over-whelming inflammatory conditions, which tend occasionally to spare the vermis.

Usually one second epochs are used in seizure detection.There are papers with 2 sec and 3 sec also.

I advise you to find experts at the Vienna Medical University - special institute of Ophthalmic immunology and virology.

Good luck!

 Can you send me the protocol for Mesoscale James. My email id is ganesanp@duq.edu

Hi Kelly,

In our lab we are using SH-SY5Y cells for PD research. N27 rat dopaminergic cell line is another choice of ours. However, I think, one of the best options you can use is the primary midbrain cultures isolated from rat embryos. We dissect midbrain from E17 rat embryos and culture the cells. It's, obviously, a mixed culture including dopaminergic and GABAergic neurons, as well as astrocytes and microglia. You can also inhibit the growth of glial cells in cultures dishes via different treatments if you wanna eliminate these. Since it's a mixed culture, you can see the effect of your treatment/chemical/compound on different neuronal or glial cells, which might be an advantages depending on the purpose of your neuroprotective assay.

I hope this helps a bit. Good luck!

Thank you for the response, and the sharing of your professional experience

Dear Mahdieh Golzarand,

Check this out:  

Dissociable Neural Responses in Human Reward Systems

Rebecca Elliott, Karl J. Friston, and

Raymond J. Dolan

The Journal of Neuroscience, 15 August 2000, 20(16): 6159-6165;

From the abstract:

.....functional neuroimaging was used to assess neural response within human reward systems under different psychological contexts. Nine healthy volunteers were scanned using functional magnetic resonance imaging during the performance of a gambling task with financial rewards and penalties. We demonstrated neural sensitivity of midbrain and ventral striatal regions to financial rewards and hippocampal sensitivity to financial penalties. Furthermore, we show that neural responses in globus pallidus, thalamus, and subgenual cingulate were specific to high reward levels occurring in the context of increasing reward. Responses to both reward level in the context of increasing reward and penalty level in the context of increasing penalty were seen in caudate, insula, and ventral prefrontal cortex.

This RP might lead you to the exactly needed references. 

The use of calcium-dependent fluorescent indicator dyes has enabled the measurement of synchronized activity across a network of cells. This technique gives both high spatial resolution and sufficient temporal sampling to record spontaneous activity of the developing network.

J Vis Exp. 2011; (56): 3550.

Published online 2011 Oct 22. doi: 10.3791/3550

PMCID: PMC3227196

Functional Calcium Imaging in Developing Cortical Networks

Julia Dawitz et al

see the paper by virginia le Verche , B Ikiz, A Jacquier, S. Przedborski and D B Re 

J receptor, ligand and channel Research 

4, 2011, 1-22. Glutamate pathway implication in amyotrophic lateral sclerosis: what is the signal in the noise ?

You will find the data set of CP children with crouch gait used in the paper of Steele K. et al., "Muscle contributions to vertical and fore-aft accelerations are altered in subjects with crouch gait", in the following link: https://simtk.org/home/ crouchgait

Sincerely,

Emiliano Ravera

I still think this is migraine. But once that's said, there still is a differential diagnostic list of syndromes that are associated with recurrent, "plegic" (as in hemiplegic or diplegic or...) migraine. For some reason, in the back of my mind, there's pointer to a variety of disorders lumped together as the dysautonomias - including Riley-Day,

If you have genetic confirmation of both a CMTD and myotonic dystrophy, that's a pretty unique case!  The neuropathy with myotonia and sick sinus sounds like a very rare bird as well. You would want the DMPK repeat testing, ZNF9 repeat testing if older onset, CLCN1 and SCN4,  and maybe a good CMTD panel like the one from Invitae for these, unless some of the clinical and eleectrodiagnostic features and family history would narrow it down more.  Athena offers a myotonia panel but it is very expensive so that would be good if you can.

Hi, Air fresheners can include fragrances, aerosol propellants, and solvents. As fragrances, air freshener preparations often include terpenes such as limonene. Also, many air freshener products emit allergens and toxic air pollutants including benzene, formaldehyde, terpenes, styrene, phthalate esters, and toluene, plus formaldehyde, hydroxyl radical, and secondary ultrafine particles. Defining the substances will be importanto to find the references. We have some studies on the effects of solvents such as toluene in humans and animal models. One has also to consider the dose that you want to refer to- are you looking at the abusive use of air freshners or the most common and thought way of using it in domestic setting?

At least one study has shown that higher cumulative anticholinergic use is associated with an increased risk for dementia.

see Gray et al., 2015

There are registries for AD and related disorders. Some of them are as follows:

1. Alzheimer's Disease Registry from The Office for the Study of Aging (OSA) http://www.sph.sc.edu/osa/alzheimers_registry.html

2. The Consortium to Establish a Registry for Alzheimer’s Disease (CERAD) http://cerad.mc.duke.edu/

3. Alzheimer Prevention Registry (http://www.endalznow.org/)

4. St. Louis Alzheimer’s Association Research Registry (http://www.alz.org/stl/in_my_community_14848.asp)

5. Wisconsin Registry for Alzheimer's Prevention (WRAP) (http://www.wai.wisc.edu/research/wrap.html)

Non NF associated MPNST do exist but the lifetime risk of having only MPNST  have a 0.001% chances in the general population....

ST88-14, and NF90-8 are the other cell lines on which you will find few work done...

Find the attached articles to know more..

Hope it will be helpful...

All the best

Dear Americo I have seen only one case referred  from Pediatric Dep. The case published at :

Sudanese Journal of dermatology

Postal Address : P.O.Box:10486. Khartoum 11111, Sudan.

E-mail :Sudanesedermatologists@yahoo.co.uk

Telephone : + 249 12350864

Web Site: www.ajol.info

Bashir, A.H.H. Acrodystrophic neuropathy of Bureau and Barriere in Sudanese patient - Single case report & Review. Sudan J Dermatol 2006; Vol 4 (2): 74 – 80.

HTT is ubiquitously expressed and over the past decade it has become apparent that  patients with HD experience a wide array of peripheral organ dysfunction including, weight loss, HD-related cardiomyopathy, skeletal muscle wasting and severe metabolic phenotype. (e.g. Front Physiol. 2014 Oct 6;5:380. doi: 10.3389/fphys.2014.00380. eCollection 2014; Lancet Neurol. 2009 Aug;8(8):765-74. doi: 10.1016/S1474-4422(09)70178-4; Neurology. 2008 Nov 4;71(19):1506-13. doi: 10.1212/01.wnl.0000334276.09729.0e. and others)

Hello Aaron,   

          A similar trend seems to exist in autistic spectrum disorders where the prevalence  in males is 4-5 times more than females. Disturbances in oxytocin levels are commonly implicated in autistic spectrum disorders and therefore increased levels of oxytocin in females is thought to be protective against developing autism spectrum disorders. This could be the case with epilepsy as well. Infact, epilepsy seems to be quite common in people with autistic spectrum disorders. In the hippocampus, oxytocin can enhance inhibition through its action on interneurons. Thinking on this line, difference in oxytocin levels could be one of the reasons for your observations.

Deepak.