Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine-producing cells in the brain. It affects movement and often presents with tremor, stiffness, and difficulty with balance. PD is a chronic and progressive condition, for which there is no cure. However, there are several treatment options available to support patients and manage the symptoms.

The scientific community has identified several genes that are associated with Parkinson’s disease. These genetic alterations can cause Parkinson’s either through rare, inherited mutations (such as mutations in the genes known as alpha-synuclein, Parkin, or Pink1) or through more common genetic variations that increase the risk of developing the disease. Research and genetic testing have provided valuable information about the role of these genes and the causes of Parkinson’s disease.

Clinical trials are also being conducted to better understand the disease and explore new treatment options. Resources such as ClinicalTrials.gov provide information on ongoing studies and opportunities for patients to participate in research. In addition, advocacy groups and organizations like the Michael J. Fox Foundation and the Parkinson’s Disease Foundation offer support, information, and resources for people living with Parkinson’s disease.

Parkinson’s disease has a long history, and it has been referred to by various names throughout the years. It was first described by James Parkinson in 1817 and has since been referred to as “shaking palsy” and “paralysis agitans.” The disease is named after James Parkinson to honor his contributions to understanding its symptoms and progression. In recent years, scientific research has advanced our understanding of the disease and its underlying mechanisms, leading to improved diagnosis and treatment options.

Frequency

The frequency of Parkinson’s disease varies depending on the population and geographic area. According to scientific research conducted by Cookson et al., Parkinson’s disease affects approximately 1% of individuals over the age of 60 worldwide. However, the frequency can be higher or lower in specific regions.

Parkinson’s disease is not typically inherited and is considered sporadic. However, in some cases, there are genetic factors that contribute to the development of the disease. Certain genes, such as GBA, LRRK2, PARK2, PINK1, and SNCA, have been associated with an increased risk of Parkinson’s disease.

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The symptoms of Parkinson’s disease, including tremors, balance problems, and movement difficulties, can vary in frequency and severity. A study by Gasser identified different clinical subtypes of Parkinson’s disease based on the frequency and pattern of symptoms.

To learn more about the frequency of Parkinson’s disease, genetic testing and research studies are conducted. These provide additional information about the genes and genetic alterations that may cause or be associated with the disease. Several resources, such as OMIM, PubMed, and ClinicalTrials.gov, provide articles and information about the frequency and causes of Parkinson’s disease.

It is important to note that Parkinson’s disease is different from other diseases that cause parkinsonism, which refers to a group of motor symptoms resembling Parkinson’s disease. The frequency of parkinsonism can vary depending on the underlying cause. Some forms of parkinsonism are associated with specific genetic mutations or exposure to certain toxins.

In recent years, there has been increased awareness and support for Parkinson’s disease research and advocacy. Organizations like the Parkinson’s Disease Foundation and the Michael J. Fox Foundation provide resources and support for patients and their families. Clinical trials listed on ClinicalTrials.gov offer opportunities for individuals to participate in research studies aimed at understanding the causes and finding new treatments for Parkinson’s disease.

Causes

Parkinson’s disease is a neurodegenerative disorder that is primarily characterized by the progressive loss of dopaminergic neurons in the substantia nigra, a region located in the center of the brain. While the exact causes of Parkinson’s disease are still not fully understood, scientific research has contributed to our understanding of the disease’s genetic and environmental factors.

Genetics play a significant role in the development of Parkinson’s disease. In around 10-15% of cases, the disease is considered to have a genetic cause. Mutations in certain genes, such as the SNCA, LRRK2, and PARK2 genes, have been identified as contributors to the development of Parkinson’s disease. These genes play a role in various biological pathways related to the formation and function of dopamine-producing neurons in the brain.

In addition to these known genetic causes, there are also several other genetic risk factors that have been identified. These genetic variants do not directly cause Parkinson’s disease, but they increase the likelihood of developing the disease. Some of these genetic risk factors include variations in the GBA, GAK, and MAPT genes.

Environmental factors also play a significant role in the development of Parkinson’s disease. Exposure to certain toxins, such as pesticides and heavy metals, has been linked to an increased risk of Parkinson’s disease. Oxidative stress and free radicals have also been implicated in the neurodegeneration seen in Parkinson’s disease.

While the precise mechanisms underlying the development of Parkinson’s disease are still being investigated, current scientific knowledge suggests a complex interplay between genetic and environmental factors. Further research is needed to fully understand the causes of Parkinson’s disease and develop effective treatments.

For more information about the causes of Parkinson’s disease, resources such as the Michael J. Fox Foundation and the Parkinson’s Foundation provide advocacy, support, and educational materials. Additionally, scientific studies and clinical trials can be found on websites such as clinicaltrialsgov, OMIM, and PubMed.

Learn more about Parkinson’s disease causes by exploring the resources below:

Learn more about the genes associated with Parkinson’s disease

Parkinson’s disease is a neurodegenerative disorder characterized by the loss of dopamine-producing cells in the brain. While the exact causes of the disease are still unknown, research has shown that genetics play a significant role in its development.

There are several genes that have been associated with Parkinson’s disease. Some of the most commonly referred to genes include:

  • SNCA: This gene provides instructions for making a protein called alpha-synuclein, which is found primarily in the brain. Alterations in this gene are known to cause rare, inherited forms of parkinsonism.
  • LRRK2: This gene provides instructions for making a protein called dardarin, which is involved in a number of cellular pathways. Mutations in this gene are the most common known genetic cause of Parkinson’s disease.
  • PINK1: Mutations in this gene cause a rare form of Parkinson’s disease with early onset. This gene is involved in the maintenance of mitochondria, which play a critical role in cellular energy production.
  • PARK2: Mutations in this gene account for a small percentage of Parkinson’s disease cases. It is involved in the degradation of damaged proteins and the removal of harmful free radicals.
See also  MTTP gene

These genes can be inherited in different patterns, with some being autosomal dominant and others autosomal recessive. Additionally, there are several other genes associated with Parkinson’s disease that have been identified through genetic research.

Understanding the genetic basis of Parkinson’s disease is important for developing targeted therapies and improving patient care. Genetic testing can provide valuable information about a patient’s risk for developing the disease, as well as provide insight into their family history.

For more information about the genes associated with Parkinson’s disease, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and the Parkinson’s Disease Foundation. ClinicalTrials.gov also provides information about ongoing research studies that are investigating the genetic causes and potential treatments for Parkinson’s disease.

Inheritance

Parkinson’s disease (PD) can be inherited, meaning that it can be passed down from one generation to the next. This is known as genetic inheritance. In these cases, the disease is referred to as familial Parkinson’s disease.

Genetic inheritance occurs when certain information in our genes is passed on from our parents. Genes are segments of DNA that contain instructions for making the proteins that our body needs to function properly. If there are alterations or mutations in certain genes involved in the production of proteins that are essential for the health and function of the dopamine-producing neurons in the brain, it can lead to Parkinson’s disease.

There are several genes that have been identified as playing a role in the inherited forms of Parkinson’s disease. These genes include SNCA, LRRK2, Parkin, and PINK1, among others. Mutations in these genes can cause disruptions in the pathways responsible for the balance of dopamine, a neurotransmitter involved in movement control.

The frequency of Parkinson’s disease cases that are inherited is relatively low, accounting for only about 10-15% of all cases. However, research has shown that people with a family history of Parkinson’s disease have a higher risk of developing the disease themselves compared to those without a family history.

When a person with Parkinson’s disease has a family history of the condition, genetic testing can be done to identify whether there are specific genetic mutations associated with the disease. This testing can provide additional information about the individual’s condition and potentially help guide treatment and management strategies.

Scientific research has made significant progress in understanding the genetic basis of Parkinson’s disease. Many studies have been conducted to identify the specific genetic causes and mechanisms involved in the disease. Resources such as PubMed, OMIM, and other scientific databases provide valuable references and articles for further learning about the genetics of Parkinson’s disease.

In rare cases, Parkinson’s disease may be caused by mutations in genes that are unrelated to the known genetic causes of the disease. These cases are known as sporadic or idiopathic Parkinson’s disease, and the exact cause is still unknown.

Advocacy and support organizations such as the Parkinson’s Disease Foundation and the Michael J. Fox Foundation provide resources and information for individuals and families affected by Parkinson’s disease. They also fund research studies to further advance our understanding of the disease and develop new treatments.

In conclusion, while most cases of Parkinson’s disease are not inherited and occur sporadically, a small percentage of cases have a genetic basis. Genetic inheritance can play a significant role in the development of Parkinson’s disease, and ongoing research is uncovering more about the specific genes and pathways involved in the disease’s inheritance.

References:

  • Genetics Home Reference. Parkinson disease. Retrieved from https://ghr.nlm.nih.gov/condition/parkinson-disease
  • Nalls, M. A., & Singleton, A. B. (2011). Genetics of Parkinson’s disease: progress, prospects, and challenges. Mount Sinai Journal of Medicine: A Journal of Translational and Personalized Medicine, 78(5), 1-13.
  • Table adapted from Leal-Cardoso, J. H., Lisboa, A. F., & Santos, A. L. (2018). Nitric oxide and Parkinson’s disease: pathophysiological mechanisms and therapeutic implications. Neuroscience, 371, 372-384.
  • Catalog of Parkinsonism-Associated Genes. Retrieved from https://www.pdgene.org/
  • ClinicalTrials.gov. Parkinson’s Disease. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Parkinson+Disease

Other Names for This Condition

Parkinson’s disease, also known as Parkinson disease, primary parkinsonism, idiopathic parkinsonism, or paralysis agitans, is a neurodegenerative disorder that primarily affects movement. It is named after James Parkinson, the British physician who first described the condition in 1817.

In addition to these common names, Parkinson’s disease may also be referred to by other names, including:

  • Shaking palsy
  • Parkinson syndrome
  • Idiopathic Parkinson disease
  • PD
  • Primary parkinsonism

The exact cause of Parkinson’s disease is not yet fully understood, but research suggests a combination of genetic and environmental factors play a role in its development. Some studies have identified specific genes and alterations in pathways related to dopamine-producing cells that may contribute to the disease.

The most common symptom of Parkinson’s disease is tremor, which is a rhythmic shaking movement, but the disease can also cause other motor symptoms such as bradykinesia (slowness of movement), rigidity (stiffness of the limbs), and postural instability (trouble maintaining balance).

Testing for Parkinson’s disease may involve a clinical examination by a neurologist, as well as medical history assessment, blood tests, brain imaging, and sometimes genetic testing. In some cases, a dopamine transporter imaging test may be performed to help confirm the diagnosis.

Support and additional information on Parkinson’s disease can be found through various resources, especially patient advocacy organizations, scientific publications, and research studies. Some useful resources for learning more about the causes and symptoms of Parkinson’s disease include:

  • Parkinson’s Disease Foundation
  • National Institute of Neurological Disorders and Stroke
  • PubMed database for scientific articles
  • OMIM (Online Mendelian Inheritance in Man) catalog of human genes and genetic disorders
  • ClinicalTrials.gov for information on ongoing clinical trials

Overall, Parkinson’s disease is a complex condition with various names and causes. While there is currently no cure for the disease, ongoing research and advancements in treatment options provide hope for people living with Parkinson’s.

Additional Information Resources

Here are some additional resources to learn more about Parkinson’s disease:

  • Other Websites – Apart from the resources mentioned above, there are other websites that provide valuable information about Parkinson’s disease. Some of these include:
    • ClinicalTrials.gov – This website provides information about clinical trials related to Parkinson’s disease.
  • Causes and Research – To understand the causes and ongoing research in Parkinson’s disease, it is important to explore the following resources:
    • Neuroscience News – This article discusses the role of the pink1 gene in dopamine-producing pathways and its connection to Parkinson’s disease.
    • PubMed – PubMed is a comprehensive database of scientific articles. You can find numerous studies on Parkinson’s disease and its associated symptoms and movement disorders.
    • OMIM – OMIM is a catalog of human genes and genetic conditions. It provides information on different genes associated with Parkinson’s disease.
  • Inheritance and Genetic Testing – Inheritance patterns and genetic testing play a significant role in understanding Parkinson’s disease. These resources can provide more information:
    • PubMed – This study explores the role of several genes in Parkinson’s disease, including LRRK2 and SNCA.
    • PubMed – This article discusses the role of PINK1, PARK2, and other genetic causes of Parkinson’s disease.
  • Clinical Trials and Support – When dealing with Parkinson’s disease, it’s important to know about ongoing clinical trials and available support. These resources can be helpful:
    • ClinicalTrials.gov – This website provides information about ongoing clinical trials related to Parkinson’s disease.
    • PubMed – This study discusses the importance of support groups and their role in managing Parkinson’s disease.
See also  Renpenning syndrome

By exploring these resources, you can gain a better understanding of Parkinson’s disease, its causes, associated symptoms, and ongoing research.

Genetic Testing Information

In some cases, Parkinson’s disease may be caused by genetic alterations. Genetic testing can provide important information about the role of genes in the development of the disease.

Genes such as GBA, LRRK2, and PARK2 have been identified as causing inherited Parkinson’s disease. These genes are involved in important pathways related to dopamine-producing cells in the brain.

The genetics of Parkinson’s disease are complex, and there are many genes that can play a role in its development. Some of these genes have been associated with rare forms of Parkinsonism, such as PARKIN, PINK1, and DJ-1.

Genetic testing can help determine if a person has alterations in these genes that are known to cause Parkinson’s disease. This can be important for individuals who have a family history of the disease or who develop symptoms at a young age.

There are several resources available to learn more about genetic testing for Parkinson’s disease:

  • Genetics Home Reference: A comprehensive catalog of genes and genetic conditions, including information about the genetics of Parkinson’s disease.
  • PubMed: A database of scientific articles, where you can find studies and research about the genetics of Parkinson’s disease.
  • ClinicalTrials.gov: A database of clinical trials, where you can find information about ongoing studies related to the genetics of Parkinson’s disease.

It is important to note that genetic testing is not recommended for everyone with Parkinson’s disease. In most cases, Parkinson’s disease is not inherited and is not caused by genetic alterations. However, genetic testing can provide valuable information for individuals who have a family history of the disease or who develop symptoms at a young age.

In addition to genetic testing, there are many other resources available to support individuals and families affected by Parkinson’s disease. Support groups, advocacy organizations, and online communities can provide valuable information and support.

Overall, genetic testing can provide important information about the genetic causes and inheritance patterns of Parkinson’s disease. However, it is important to work with a healthcare provider or genetic counselor to understand the limitations and implications of genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a reliable source of information about genetic and rare diseases, including parkinsonism. GARD provides resources and support for individuals and families affected by these conditions.

Parkinsonism refers to a group of neurodegenerative disorders that cause movement problems similar to Parkinson’s disease. These disorders can have genetic causes or be acquired through other diseases or conditions. GARD offers information about the different types of parkinsonism and their inheritance patterns.

GARD provides a comprehensive catalog of over 7,000 rare diseases and associated genes. This resource can be used by researchers, clinicians, and patients to learn more about specific genetic conditions.

For individuals who have been diagnosed with a rare disease, GARD offers information about available genetic testing and research studies. This can help individuals understand the underlying cause of their condition and potentially explore treatment options.

One specific gene associated with parkinsonism is the PARK2 gene. Mutations in this gene are the most common cause of an early-onset form of parkinsonism known as juvenile parkinsonism. GARD provides information about the symptoms and inheritance patterns associated with PARK2 mutations.

In addition to providing information about specific rare diseases and genes, GARD offers resources for advocacy and support. This includes links to patient organizations and advocacy groups that focus on genetic and rare diseases, as well as additional sources of information and support.

Researchers and clinicians can also benefit from GARD’s resources. The center offers information on scientific studies and clinical trials related to genetic and rare diseases. This can help researchers stay up-to-date with the latest findings and potentially contribute to ongoing research efforts.

References:

Patient Support and Advocacy Resources

There are several resources available for patients with Parkinson’s disease to provide support and advocate for their needs. These resources include:

  • Parkinson’s Disease Foundation (PDF): offers a variety of resources, including educational materials, support groups, and a hotline for Parkinson’s-related questions and concerns. PDF also funds research studies on Parkinson’s disease.
  • Michael J. Fox Foundation for Parkinson’s Research (MJFF): focuses on accelerating the development of better treatments and a cure for Parkinson’s disease. The MJFF provides resources for patients, caregivers, and healthcare professionals, including a database of clinical trials and a toolbox of practical resources.
  • Parkinson’s Foundation: provides educational resources, funds research studies, and offers support services for people with Parkinson’s disease. The Parkinson’s Foundation hosts events and fundraisers to raise awareness and support for Parkinson’s disease research.
  • American Parkinson Disease Association (APDA): offers resources for patients and healthcare professionals, including publications, educational materials, and support services. The APDA also funds research studies and provides grants for scientists studying Parkinson’s disease.
  • Parkinson’s UK: provides support services, information, and resources for people with Parkinson’s disease in the United Kingdom. Parkinson’s UK also funds research studies and campaigns for better services for people with Parkinson’s disease.

These resources offer a range of support and advocacy resources for patients with Parkinson’s disease and their caregivers. By utilizing these resources, patients can find information, support, and opportunities to participate in clinical trials and research studies.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a central resource for information on research studies related to Parkinson’s disease. These studies aim to further understand the causes, symptoms, and treatment options for this neurological disorder. Many different research studies are ongoing within this field, focusing on various aspects of the disease.

One of the main areas of research is focused on the central nervous system and the alterations within the brain that lead to Parkinson’s disease. Scientists are investigating the pathways and mechanisms that cause movement abnormalities, tremors, and balance impairments in patients with Parkinson’s.

See also  COL1A1 gene

Additionally, there are studies exploring the genetic causes of Parkinson’s disease. It is believed that certain genes may play a role in the development of this condition. Researchers are studying the inheritance patterns and the specific genes associated with Parkinson’s. This information is valuable for understanding why some people are more likely to develop Parkinson’s and how it can be diagnosed.

ClinicalTrials.gov also provides resources on other Parkinson’s-related diseases such as parkinsonism, which shares similar symptoms with Parkinson’s but has different underlying causes. This catalog of research studies offers additional information on these rare diseases and their genetic and scientific associations.

Advocacy groups and patient support centers can find valuable resources on ClinicalTrials.gov, as it provides information on ongoing clinical trials and related articles. This information can help patients and their families stay informed about the latest research and treatment options available.

In conclusion, ClinicalTrials.gov is a comprehensive resource for research studies related to Parkinson’s disease and other associated conditions. Through these studies, scientists hope to uncover important information about the causes and treatment of Parkinson’s. It is through these efforts that we can improve the lives of individuals living with Parkinson’s and their families.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and inherited diseases. This catalog provides valuable resources for patients, healthcare professionals, and researchers interested in understanding the causes and symptoms of various diseases, including Parkinson’s disease.

Parkinson’s disease is a neurodegenerative disorder that primarily affects the dopamine-producing cells in the brain. It is characterized by symptoms such as tremors, balance problems, and slow movement. While the exact cause of Parkinson’s disease is still being researched, it is believed to be a combination of genetic and environmental factors.

OMIM contains information about genes and diseases related to Parkinson’s disease and other parkinsonism disorders. It provides detailed descriptions of the genes associated with the disease, their inheritance patterns, and additional resources for genetic testing and advocacy.

One of the genes identified in Parkinson’s disease is known as PINK1. Mutations in this gene have been found in rare cases of familial Parkinson’s disease with autosomal recessive inheritance. OMIM provides information about the gene, its function, and the frequency of mutations in Parkinson’s disease cases.

OMIM also offers a catalog of other genes and diseases that may contribute to the development of parkinsonism, especially in cases where the disease is not primarily caused by Parkinson’s disease-associated genes. These genes are referred to as “additional genes” and include genes such as GBA, LRRK2, and SNCA.

In addition to cataloging genes and diseases, OMIM also provides references to scientific articles and clinical trials related to Parkinson’s disease. These resources can help researchers and healthcare professionals stay informed about the latest advancements and treatments for the disease.

Overall, the catalog of genes and diseases from OMIM is a valuable tool for anyone interested in learning more about the genetic and inherited causes of Parkinson’s disease and related parkinsonism disorders. It offers a wealth of information and resources that can contribute to a better understanding of the disease and ultimately lead to improved patient care.

Scientific Articles on PubMed

When it comes to researching Parkinson’s disease, scientific articles provide valuable information on its inheritance, symptoms, genetic factors, and other related aspects. PubMed is a trusted resource that offers a vast catalog of research papers and references on various diseases, including Parkinson’s.

One study by Gasser et al. investigated the frequency of the PARK2 gene in patients with Parkinson’s disease. They found that mutations in this gene, responsible for encoding a protein involved in dopamine-producing neurons, are associated with an increased risk of developing the condition.

Further studies have identified other genes, such as PINK1 and LRRK2, that are also linked to Parkinson’s disease. These genetic alterations can affect different pathways within the brain, especially those related to movement and balance.

For patients with a family history of Parkinson’s, genetic testing can provide valuable insights. By examining specific genes associated with the condition, clinicians can better understand the patient’s risk and tailor treatment plans accordingly.

Resources such as OMIM (Online Mendelian Inheritance in Man) offer detailed information on the genetic basis of Parkinson’s disease. Researchers can learn about specific genes, their mutations, and the impact they have on the disease’s progression.

In addition to genetics, other causes of Parkinsonism, a group of diseases with symptoms similar to Parkinson’s, should be considered. ClinicalTrials.gov is an excellent resource to learn about ongoing studies and research related to Parkinson’s, as well as other movement disorders.

Understanding the role of genetics in Parkinson’s disease is crucial for both research and patient care. By studying scientific articles and supporting testing efforts, we can gain valuable insights into the genetic factors contributing to the disease and develop more effective treatments.

Scientific articles provide a wealth of information on the history, causes, and research on Parkinson’s disease. They serve as important resources for healthcare professionals, researchers, and patients looking to stay informed and up-to-date on the latest developments in the field.

References:

  1. Gasser, T. (2009). Genetics of Parkinson’s disease. Parkinsonism & Related Disorders, 15(Supplement 3), S195-S198.
  2. Neurosci, G. (2018). Genetic causes of Parkinson’s disease and their links to a-synuclein: a decade of refinement. Progress in Neurobiology, 168, 69-79.
  3. ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/
  4. Online Mendelian Inheritance in Man (OMIM). (n.d.). Retrieved from https://www.omim.org/

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  • Genetics Home Reference. Parkinson Disease. Genetics Home Reference. November 10, 2021.
  • Genetics Home Reference. What is Parkinson’s disease? Genetics Home Reference. November 10, 2021.
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  • Genetics Home Reference. Is Parkinson’s disease inherited? Genetics Home Reference. November 10, 2021.
  • National Institute of Neurological Disorders and Stroke. Parkinson’s Disease Information Page. National Institute of Neurological Disorders and Stroke. September 21, 2021.
  • OMIM. Parkinson disease. Online Mendelian Inheritance in Man. November 10, 2021.
  • Parkinson’s Foundation. Causes & Statistics. Parkinson’s Foundation. November 10, 2021.
  • Parkinson’s Foundation. What Is Parkinson’s? Parkinson’s Foundation. November 10, 2021.
  • Parkinson’s Foundation. Inheritance of Parkinson’s Disease. Parkinson’s Foundation. November 10, 2021.
  • Parkinson’s Foundation. Genetic Testing for Parkinson’s Disease. Parkinson’s Foundation. November 10, 2021.
  • Parkinson’s Foundation. What causes Parkinson’s? Parkinson’s Foundation. November 10, 2021.
  • Ross OA, Rutherford NJ, Baker M, et al. Ataxin-2 repeat expansions in Parkinson’s disease. Movement Disorders. 2011; 26(12): 2347-2350. (Author’s Note: PubMed Central PMCID: PMC4146593)
  • The Michael J. Fox Foundation for Parkinson’s Research. Causes of Parkinson’s Disease. The Michael J. Fox Foundation for Parkinson’s Research. November 10, 2021.
  • The Michael J. Fox Foundation for Parkinson’s Research. Parkinson’s Disease Genetics. The Michael J. Fox Foundation for Parkinson’s Research. November 10, 2021.
  • Tremor Action Network. Parkinson’s Disease and Tremor. Tremor Action Network. November 10, 2021.