Sunday, July 21, 2024

Rare Form Of Parkinson’s

What Causes Progressive Supranuclear Palsy

Two-year-old battling juvenile Parkinson’s dystonia

The exact cause of PSP is unknown. However, experts have determined that a protein called tau is involved. Tau is an important protein that helps with brain health. It holds together and stabilizes microtubules. Tau also helps preserve the normal structural integrity of neurons, and maintain genomic DNA.

When you have PSP, the tau in your brain aggregates, which means that it clumps together. The clumps damage the neurons .

Treatments Other Than Medication Or Surgery

Staying active and pursuing therapy can help you adjust your lifestyle with Parkinson’s disease. We offer a full range of therapy and other services to help you, including:

  • Exercise, physical, occupational and recreational therapy to keep you mobile, living your life and doing things your enjoy
  • Nutrition and speech therapy to help with throat and swallowing issues.
  • Mental health support and social services to treat depression and anxiety stemming from disease-related challenges, such as lifestyle changes.

Learn more about the nonsurgical- and nonmedication-based Parkinson’s disease programs we offer. Talk to your care team about these and additional options.

We will also provide you with resources to manage your Parkinson’s Disease including new patient orientation, classes, support groups and links to national associations.

Overlap With Other Diseases

Progressive supranuclear palsy is frequently the disease most often confused with CBD. Both PSP and CBD result in similar symptoms, and both display tauopathies upon histological inspection. However, it has been noted that tauopathy in PSP results in tuft-shaped astrocytes in contrast with the ring-shaped astrocytic plaques found as a result of CBD.

Individuals diagnosed with PD often exhibit similar movement dysfunction as those diagnosed with CBD, which adds complexity to its diagnosis. Some other neurodegenerative diseases including Alzheimer’s disease , dementia with Lewy bodies , chronic traumatic encephalopathy and frontotemporal dementia also show commonalities with CBD.

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How Do I Take Care Of Myself If I Have Progressive Supranuclear Palsy

Take as many precautions as you can to keep yourself safe. Put railings in your hallways and bathtub to help when you lose your balance. Use a weighted walker or a wheelchair. Consider getting rid of objects that are on the floor or near it such as rugs and short coffee tables. It is likely youll trip over these objects because, as your symptoms worsen, youll be unable to look down without prism glasses.

Also, purchase shoes with smooth soles instead of rubber soles. If youre unable to lift your foot when you start to walk, you might fall forward. Smooth soles make it easier for the foot to slide forward. You can also wear bifocals or prism glasses to help with looking down. Follow any other instructions your healthcare provider gives you.

The Increased Interest In Cbd Products As Supplemental Treatment

Figure 2 from Mitophagy and Parkinson

There is also a very confusing array of CBD products that are available for purchase. These vary in:

  • What the manufacturers state is in the product. That is, some formulations of CBD will state on their label that they also contain a small amount of THC or that they contain other cannabis-derived compounds, but not THC. Others state that they are pure CBD.
  • The formulation. CBD is available in oils, creams, pills, inhalants and more.

It is not just the Parkinsons disease community that has taken an interest in CBD. There are countless health claims that CBD is helpful for a whole host of conditions. Clinical trial evidence to support the use of CBD however, is minimal. The only FDA-approved indication for CBD is to reduce seizure frequency in certain rare and severe forms of childhood epilepsy. A purified form of CBD, sold under the brand name Epidiolex® was tested in a well-designed clinical trial in order to gain this approval. .

For all the other health claims, there is not enough clinical trial data to allow the FDA to state whether or not CBD is effective. And there definitely is not enough data to support the use of one type or formulation of CBD over another.

This has not dimmed the enthusiasm of millions of CBD users for a wide range of medical conditions.

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Duopa To Treat Parkinson’s Disease

Froedtert & MCW health network is the first in the state to use Duopa, a advanced approach to the administration of carbidopa and levodopa for the treatment of motor fluctuations for people with advanced Parkinson’s disease.

As Parkinson’s disease progresses, some patients may experience motor fluctuations from an “on” state, when symptoms are well-treated, to an “off state, during which they are slower, stiffer and experience more difficulty moving. These states correspond to peak and trough plasma concentrations of levodopa. Patients may also experience dyskinesias , generally at peak dose.

Duopa was approved by the FDA in 2015 as an enteral suspension for the treatment of these motor fluctuations for people with advanced Parkinson’s disease.

How Does Duopa Work?

Duopa is administered using a small, portable infusion pump that delivers carbidopa/ levodopa directly into the small intestine via a tube placed by a percutaneous endoscopic gastrostomy procedure with a jejunal extension . Duopa provides patients with the same active ingredients as orally-administered carbidopa/levodopa immediate release, but is delivered in a continuous fashion throughout the day, which avoids the plasma level peaks and troughs seen with the oral medication.

While there is no known cure for Parkinsons disease, available treatments help reduce symptoms, and carbidopa/levodopa is recognized as one of the most effective treatment for the disease.

Is Progressive Supranuclear Palsy Fatal

PSP itself does not directly kill. Unfortunately, PSP symptoms increase the risk of complications such as pneumonia, which can be deadly. Aspiration pneumonia is the most common cause of death in people with PSP. It happens because the muscles in your throat become weak and uncoordinated, and food and drink accidentally trickle down your windpipe and into your lungs.

Another common cause of death in PSP falling. You may suffer fractures and head trauma.

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Genetic Classification Of Pd

In the current PD genetics nomenclature, 18 specific chromosomal regions, also called chromosomal locus, are termed PARK , and numbered in chronological order of their identification . In addition to being an incomplete list of known PD-related genes, this classification system, unfortunately, has a number of inconsistencies. It comprises confirmed loci, as well as those for which linkage or association could not be replicated . The causative gene has not yet been identified for all of the loci, nor do all of the identified genes contain causative or disease-determining mutations . Finally, one locus, PARK4, was designated as a novel chromosomal region associated with PD but was later found to be identical with PARK1 . It is noteworthy that some of the loci have been identified by genetic linkage analysis in large families, some based on the known function of the protein product of the gene they contain, yet others have been established by genome-wide association studies performed on a population level. A list of the PARK PD-related genes and loci is given in , along with their clinical classification, inheritance pattern , gene , status , and mode of identification.

Genetic Testing: Whom To Test And How

What are the different forms and stages of Parkinson’s disease?

The answer to the question of who should be tested is not trivial. To date, no formal testing guidelines have been developed by the Movement Disorder Society or any other PD alliance group. Out of all monogenic forms, mutations in LRRK2, Parkin, and PINK1 are the most likely to be encountered in clinical practice. In the following scenarios, genetic testing might prove useful to minimize further patient workup, to clarify treatment approaches, and/or to assist with future family planning: juvenile-onset PD irrespective of family history early-onset PD with atypical features and/or a positive family history of this disease or late-onset PD with a strong family history of PD . Guidelines published by the European Federation of the Neurological Sciences recommend screening LRRK2 for mutations in Europeans showing dominant inheritance of PD, testing for the LRRK2 p.G2019S mutation in familial and sporadic cases of PD in specific populations, and analysis of Parkin, PINK1, and DJ-1 in patients aged < 35 yr with recessively inherited PD .

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Are There Signs And Symptoms Of Progressive Supranuclear Palsy That Are More Common Or Appear First

The most common first sign is a loss of balance when walking or climbing stairs. You might feel stiff, awkward when walking and have falls for reasons you cant explain. The second most common symptom is difficulty looking downward. Then, you might have a hard time finding words, freezing in the middle of walking and have forgetfulness, personality changes, increased irritability and loss of interest. Another very common initial symptom is a stare look on your face. Other symptoms that occur at first, but are less common, include slurred speech, difficulty driving and shaky hands.

A Global Search For People With A Rare Inherited Form Of Parkinson’s Disease

Study Rationale:Mutations, or changes, in the genes PRKN and PINK1 cause inherited Parkinson’s disease that starts at an early age. This type of Parkinson’s accounts for roughly 13 percent of all early-onset cases. Because of the similarities between the disease caused by one of these mutations and the disease with an unknown cause , studying monogenic PD could help to better understand not only inherited but also idiopathic forms of PD.

Hypothesis:Identifying people carrying PRKN and PINK1 mutations in different countries will allow us to collect and organize important clinical and genetic information relevant to PD. This approach will also allow us to establish a global network of neurologists and neuroscientists who work with people with monogenic PD and study this important Parkinson’s subtype. We aim to identify enough people with PD to conduct clinical trials.

Study Design:We will screen all available publications on PD caused by PRKN and PINK1 mutations and assemble a list of neurologists and movement disorders specialists working with people with this type of Parkinson’s. We will then invite all of those clinicians to apply for participation in the network. Their application would include details of clinical features, availability of biomaterials and opportunities for data and sample sharing.

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Dementia In Persons With Hiv/aids

Dementia can occur when the HIV virus attacks ones nervous system and causes damage to the brain cells. When symptoms including memory loss, poor judgment, confusion, mood swings, difficulty with coordination, and trouble learning new things are severe enough to interfere with daily life, a diagnosis of HIV dementia may be given. These symptoms may be reversible with treatment, and certain HIV drug therapies have been shown to make dementia less likely. A milder form of cognitive impairment in people with HIV, called HIV Associated Neurocognitive Disorder or HAND, can still affect the brain.

Causes Of Parkinson’s Disease

ATP13A2 novel mutations causing a rare form of juvenile ...

Parkinson’s disease is caused by a loss of nerve cells in part of the brain called the substantia nigra. This leads to a reduction in a chemical called dopamine in the brain.

Dopamine plays a vital role in regulating the movement of the body. A reduction in dopamine is responsible for many of the symptoms of Parkinson’s disease.

Exactly what causes the loss of nerve cells is unclear. Most experts think that a combination of genetic and environmental factors is responsible.

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How Is Psp Diagnosed

Currently there are no tests or brain imaging techniques to definitively diagnose PSP. An initial diagnosis is based on the persons medical history and a physical and neurological exam. Identifying early gait problems, problems moving the eyes, speech and swallowing abnormalities, as well as ruling out other similar disorders is important. Diagnostic imaging may show shrinkage at the top of the brain stem and look at brain activity in known areas of degeneration.

What Questions Should I Ask My Healthcare Provider About Progressive Supranuclear Palsy

  • What exercises are safe to do?
  • Are there any vitamins I should take?
  • How can my friends and family support me?
  • Can you refer me to a psychiatrist to help with medications for clinical depression?
  • Can you refer me to a therapist for counseling?
  • Do you think I will need to have a gastrostomy?
  • Is there a speech-language therapist I should see?
  • Should I see an ophthalmologist to help with my eyesight?
  • Where can I get a weighted walker to help me get around?
  • Can I continue to go to work/school?

A note from Cleveland Clinic

Progressive supranuclear palsy is a serious disorder that can negatively affect you in many ways and shorten your lifespan. Its a rare brain disease that affects your walking, balance, eyesight, thinking, emotions and more. Keep a close eye on your symptoms and report them. Dont hesitate to stay in contact with your healthcare providers. See your specialists, go to therapy, take prescribed medications and do everything you can to improve your quality of life!

Last reviewed by a Cleveland Clinic medical professional on 10/23/2020.


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Identification Of New Genes And Risk Factors For Pd

New PD-linked genes or PD risk factors can be identified by gene mapping or candidate gene approaches. Gene mapping in human diseases is the localization of genes underlying the clinical phenotypes of the disease on the basis of correlation with DNA variants , without the need for prior hypotheses about biological function. Genetic mapping methods include linkage analysis and genome-wide association studies. Alternatively, based on their known function, levels of expression, or mode of interaction , some genes can be considered plausible candidates, and as such, tested for in cohorts of patients.

What Are The Different Forms Of Parkinsonism

Parkinson’s Disease – Types, Prevalence, and Prognosis

There are three main forms of parkinsonism, as well as other related conditions.

Most people with parkinsonism have idiopathic Parkinsons disease, also known as Parkinsons. Idiopathic means the cause is unknown.

The most common symptoms of idiopathic Parkinsons are tremor, rigidity and slowness of movement.

Vascular parkinsonism affects people with restricted blood supply to the brain. Sometimes people who have had a mild stroke may develop this form of parkinsonism.

Common symptoms include problems with memory, sleep, mood and movement.

Some drugs can cause parkinsonism.

Neuroleptic drugs , which block the action of the chemical dopamine in the brain, are thought to be the biggest cause of drug-induced parkinsonism.

The symptoms of drug-induced parkinsonism tend to stay the same only in rare cases do they progress in the way that Parkinsons symptoms do.

Drug-induced parkinsonism only affects a small number of people, and most will recover within months and often within days or weeks of stopping the drug thats causing it.

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What Should I Avoid Eating Or Drinking With This Condition

There are no foods that improve progressive supranuclear palsy or worsen it. However, you should always drink water, eat healthy and exercise .

As your symptoms progress, you may find eating and drinking more difficult because youll have difficulty swallowing. Be sure to adjust your diet to avoid choking. The muscles in your throat may not be able to direct your food and water down the right pipe that is, into your stomach and not your lungs. This is dangerous because you could choke, or you could possibly get pneumonia. Talk to your healthcare provider about what you can and cant eat and drink as your condition progresses.

What Parts Of The Brain Does Progressive Supranuclear Palsy Affect

Eventually PSP will spread to virtually every part of your brain. PSP affects various parts of your brain to a varying extent and at various stages of the disease. Your basal ganglia and brainstem tend to be affected early and more severely. The brainstem is responsible for a large number of vital functions, including your ability to swallow, and posture control. The basal ganglia also help with posture, as well as eye movements, thinking and emotions. Additionally, the basal ganglia are essential to the control of automated movements.

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Differential Diagnosis Of Rare Subtypes Of Progressive Supranuclear Palsy And Psp

  • 1Students Scientific Association of the Department of Neurology, Medical University of Warsaw, Warsaw, Poland
  • 2Department of Neurology, Medical University of Warsaw, Warsaw, Poland
  • 3Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland
  • 4Diagnostic Ultrasound Lab, Department of Pediatric Radiology, Medical Faculty, Medical University of Warsaw, Warsaw, Poland

Presently, there is increasing interest in rare PSP variants, including PSP-PGF , PSP-PI , PSP-OM , PSP-C , PSP-CBS , PSP-SL , and PSP-PLS . Diagnosis of these subtypes is usually based on clinical symptoms, thus thorough examination with anamnesis remains a major challenge for clinicians. The individual phenotypes often show great similarity to various neurodegenerative diseases and other genetic, autoimmune, or infectious disorders, manifesting as PSP-mimicking syndromes. At the current stage of knowledge, it is not possible to isolate a specific marker to make a definite ante-mortem diagnosis. The purpose of this review is to discuss recent developments in rare PSP phenotypes and PSP-like syndromes.

Is Progressive Supranuclear Palsy Inherited

Clinical features of Parkinson

No, PSP rarely runs in families. If you have PSP, there is very little risk of your other family members having it, and that includes your siblings and your children. Family history of PSP has an almost zero effect on an individuals lifetime PSP risk, meaning people have about the same risk of developing PSP in their lifetime regardless if they do or do not have someone in their family who had or has PSP.

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How Can My Friends And Family Help If I Have Progressive Supranuclear Palsy

Tell your friends and family about your symptoms. Let them know what you can and cant do. Help them understand that changes in your personality, eye contact and mood are part of the illness. Its also important to explain to them that the severity of your symptoms can come and go. One hour, you may be walking, eating and writing just fine, and the next hour you might barely be able to do those things at all.

If youre a caregiver for someone with PSP, be sure to take care of yourself, too!

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