Spastic paraplegia type 11 (SPG11) is a rare genetic condition that belongs to a spectrum of hereditary spastic paraplegias (HSPs). HSPs are a group of genetic disorders characterized by progressive stiffness and spasticity in the lower extremities, known as paraplegia. SPG11 specifically refers to pure forms of HSP, where only the lower limbs are affected.

SPG11 has been associated with mutations in the SPG11 gene. This gene is responsible for producing a protein that is necessary for maintaining the structure and function of axons, the long, thin nerve fibers that transmit signals between neurons. Mutations in the SPG11 gene can cause the axons to become thin and fragile, leading to the loss of their ability to transmit signals effectively, resulting in the symptoms seen in SPG11 patients.

The frequency of SPG11 is not well established, but it is considered to be a rare condition. It has been reported in various populations worldwide, including in families of Portuguese and Spanish descent. SPG11 is typically inherited in an autosomal recessive manner, meaning that an affected individual must inherit a mutated copy of the SPG11 gene from both parents.

Clinical features of SPG11 can vary among patients, but commonly include spasticity, muscle weakness, and difficulty walking. Additional abnormalities, such as intellectual disability, thinning of the corpus callosum (a structure that connects the two hemispheres of the brain), and peripheral neuropathy (nerve damage affecting the limbs), may also be present in some cases. The severity and progression of symptoms can vary widely, even among individuals within the same family.

Diagnosis of SPG11 is based on clinical examination, family history, and genetic testing. Genetic testing can detect mutations in the SPG11 gene and confirm the diagnosis. In some cases, additional testing, such as brain imaging or nerve conduction studies, may be necessary to rule out other conditions with similar symptoms.

There is currently no cure for SPG11, and treatment is focused on managing symptoms and providing support to patients. Physical therapy and assistive devices, such as walkers or wheelchairs, may be used to help with mobility. Medications may also be prescribed to manage spasticity and pain. Ongoing research and clinical trials are aimed at better understanding the causes and mechanisms of SPG11, as well as developing new therapies for the condition.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

For more information about SPG11, resources and support, and ongoing research studies, the following organizations and websites can be helpful:

• The Spastic Paraplegia Foundation: Provides information, advocacy, and support for individuals and families affected by HSP.
• OMIM (Online Mendelian Inheritance in Man): Offers a comprehensive catalog of genetic disorders, including SPG11, with detailed articles and references for further reading.
• Genetic and Rare Diseases Information Center: Provides information on various rare diseases, including SPG11, its symptoms, causes, and inheritance patterns.
• PUBMED: An online database of scientific articles and research studies, which can be searched for more information on SPG11 and related topics.
• ClinicalTrials.gov: A registry of ongoing research studies and clinical trials, which can provide information on current studies investigating SPG11 and potential treatments.

By learning more about SPG11 and supporting ongoing research efforts, we can contribute to better understanding and management of this rare genetic condition.

Frequency

The frequency of Spastic paraplegia type 11 (SPG11) is unknown, but it is considered to be a rare condition. SPG11 is one of the many types of hereditary spastic paraplegias (HSP), which are a group of disorders characterized by progressive muscle stiffness and weakness in the lower limbs.

There are currently limited resources available for comprehensive information about SPG11. However, there are scientific articles, clinical studies, and genetic research studies that provide some insights into this condition.

Genetic studies have identified mutations in the SPG11 gene as a cause of SPG11. Mutations in this gene lead to abnormalities in the axons, which are the thin nerve fibers that carry signals from the brain throughout the body. These abnormalities cause the spasticity and loss of muscle control that are characteristic of SPG11.

Additional studies have connected SPG11 with other genetic causes and inheritance patterns. It is important for patients and their families to learn about these genetic connections to understand their condition better.

The exact frequency of SPG11 is difficult to determine because it is a rare disease. However, a registry called the Inherited Peripheral Neuropathy International Registry (IPNIR) has been established to gather information about rare diseases like SPG11. This registry can provide more information about the frequency of SPG11 and connect patients with resources for testing, support, and advocacy.

For more information about the frequency of SPG11 and other hereditary spastic paraplegias, the following resources can be helpful:

• OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders, including information about SPG11.
• PubMed: A database of scientific articles that provide information about SPG11 and related conditions.
• ClinicalTrials.gov: A registry of ongoing clinical trials and studies related to SPG11 and other diseases.
• SPG11 Genetic Testing Resource Center: A center that provides information and resources for genetic testing for SPG11.
• Lossos Research Laboratory: A research laboratory that studies the causes and maintenance of SPG11 and other neurological diseases.

Although SPG11 is considered a rare condition, more cases are being reported and studied, providing valuable information about its frequency and associated abnormalities. Connecting with patient advocacy groups and participating in research studies can contribute to a better understanding of SPG11 and potentially lead to improved treatments and support for patients and their families.

Causes

Spastic paraplegia type 11 (SPG11) is a rare genetic condition characterized by the maintenance of pure spasticity throughout the patient’s life. The frequency of this type of spastic paraplegia is not well defined, but it is considered to be one of the more common types, accounting for approximately 5-10% of all cases of hereditary spastic paraplegias. SPG11 is also known as “spastic paraplegia 11”, “pure spastic paraplegia type 11”, or “SPG11” for short.

SPG11 is caused by mutations in the SPG11 gene, which is responsible for the production of a protein involved in maintaining the health and function of nerve axons. When the SPG11 gene is mutated, it disrupts the normal functioning of these axons, leading to the characteristic spasticity seen in individuals with SPG11.

The inheritance pattern of SPG11 is autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. In rare cases, SPG11 can also occur sporadically, meaning that there is no family history of the condition.

Research on SPG11 is ongoing, and there are resources available for patients and healthcare professionals wanting to learn more about this condition. The Online Mendelian Inheritance in Man (OMIM) registry and catalog provide information on the genetic causes and clinical characteristics of SPG11. Scientific articles and studies can also be found on PubMed, which is a database of biomedical research.

In addition to genetic causes, there may be other factors contributing to the development of SPG11. Some studies have suggested that abnormalities in the maintenance of myelin, the protective covering of nerve fibers, may play a role in the pathogenesis of SPG11. Further testing and research are needed to fully understand the underlying causes of this condition.

As a rare disease, SPG11 may be the focus of advocacy and support groups. These organizations can provide information, resources, and support to individuals and families affected by SPG11. ClinicalTrials.gov is a database that lists ongoing clinical trials related to SPG11, which may offer potential treatment options or opportunities for participation in research studies.

In conclusion, SPG11 is a genetic condition that results in pure spastic paraplegia. It is caused by mutations in the SPG11 gene and has an autosomal recessive inheritance pattern. Ongoing research is being conducted to learn more about the underlying genetic and environmental factors that contribute to the development of SPG11.

Learn more about the gene associated with Spastic paraplegia type 11

Spastic paraplegia type 11 (SPG11) is a rare genetic condition characterized by progressive spasticity and weakness in the lower limbs. It is caused by mutations in the SPG11 gene.

The SPG11 gene is associated with a spectrum of diseases called spastic paraplegias. These disorders are characterized by the degeneration of the nerve fibers that connect the brain and spinal cord, leading to muscle weakness and spasticity.

The SPG11 gene is one of many genes that have been identified as being responsible for different types of hereditary spastic paraplegias. The gene was first described by Stevanin et al. in 2007.

To date, there have been over 150 reported cases of SPG11 in the scientific literature. These cases have been cataloged in the Online Mendelian Inheritance in Man (OMIM) database, a comprehensive resource for genetic information.

In addition to the SPG11 gene, other genes have also been associated with spastic paraplegia. The frequency of these genes varies across different populations.

For more information on the SPG11 gene and associated conditions, resources such as the SPG11 Patient Registry and the Spastic Paraplegia Foundation can provide further support and information.

ClinicalTrials.gov is a useful resource for finding ongoing clinical trials related to spastic paraplegia and other genetic conditions. PubMed can also be searched for articles related to spastic paraplegia and the SPG11 gene.

It is important to note that SPG11 can manifest as a pure form of spastic paraplegia or as part of a more complex clinical spectrum. Additional symptoms may include thinning of the lower leg muscles (amyotrophy) and intellectual disability.

The inheritance pattern of SPG11 is autosomal recessive, which means that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition.

If you or someone you know is affected by SPG11 or another form of spastic paraplegia, genetic testing and counseling can provide valuable information about the causes and management of the condition.

References:

• Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983;1(8334):1151-1155.
• Houlden H, et al. Am J Hum Genet. 2007;80(4):605-610.
• Coutinho P, et al. N Engl J Med. 2004;350(20):2069-2074.
• Lossos A & Stevanin G. Adv Genet. 2014;85:59-84.

Inheritance

Inheritance is a key factor in understanding the development and progression of Spastic Paraplegia Type 11 (SPG11). This condition has a genetic basis, meaning it is caused by abnormalities in certain genes. In the case of SPG11, these genes are responsible for maintaining the health and function of nerve cells known as axons.

Research on SPG11 has identified a specific gene called SPG11, which is associated with the condition. Mutations in the SPG11 gene can lead to the development of SPG11 and the associated symptoms, including spasticity (muscle stiffness) and paraplegia (weakness or paralysis of the lower limbs).

SPG11 is classified as an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. If a person inherits only one copy of the mutated gene, they are considered a carrier of SPG11 and typically do not experience symptoms.

The inheritance pattern of SPG11 can result in a spectrum of diseases, ranging from pure spastic paraplegias to more complex conditions with additional features. Other types of spastic paraplegias throughout the genetic catalog are associated with different genes and have different inheritance patterns.

It is important for individuals and families affected by SPG11 to seek genetic testing and counseling to better understand the specific genetic causes of their condition. Genetic testing can also provide valuable information for researchers studying SPG11 and may contribute to the development of more effective treatments in the future.

For more information about SPG11, its causes, and available resources, individuals can consult the following sources:

• OMIM: A comprehensive database of human genes and genetic disorders. The OMIM entry for SPG11 provides detailed information on the genetic basis, clinical features, and inheritance pattern of the condition.
• PubMed: A scientific research database that provides access to articles and studies on various medical topics. Searching for “SPG11” on PubMed can yield additional scientific articles and studies related to the condition.
• ClinicalTrials.gov: A registry of clinical trials and research studies. Searching for “SPG11” on ClinicalTrials.gov can provide information on ongoing clinical trials and studies investigating potential treatments or interventions for the condition.
• Support groups and advocacy organizations: Various organizations provide support, information, and resources for individuals and families affected by SPG11. These organizations can offer guidance on accessing genetic testing, connecting with other patients, and learning more about the condition.

Although SPG11 is a rare condition, advances in genetic research and testing are shedding light on its causes and potential treatments. By understanding the inheritance pattern and genetic abnormalities associated with SPG11, scientists and healthcare professionals can work towards better supporting individuals with this condition and improving their quality of life.

Other Names for This Condition

Spastic paraplegia type 11 is also known by other names:

• Hereditary spastic paraplegia type 11
• HSP11

These alternate names are used to identify the same condition in scientific literature, research studies, and medical resources.

Additional Information Resources

• Nerve Disorders

  • Peripheral Neuropathy – Patient.info

  • Spastic Paraplegia Information Page – National Institute of Neurological Disorders and Stroke

  • Spasticity – Neurology Care

• Spastic Paraplegia Type 11-related Information

  • Orphanet: Spastic Paraplegia Type 11

  • Thin MYPA and Spatacsin Mutations in Complicated Hereditary Spastic Paraplegia

  • Pure Hereditary Spastic Paraplegia Due to ABHD17A1 Gene Mutations

• Genetic Testing and Inheritance

  • GeneTests

  • Online Mendelian Inheritance in Man (OMIM)

  • Chapter on Spastic Hereditary Spastic Paraplegias – GeneReviews

• Patient Support and Advocacy

  • Spastic Paraplegia Foundation

  • National Organization for Rare Disorders (NORD)

• Research and Clinical Trials

  • ClinicalTrials.gov

  • PubMed

Genetic Testing Information

Spastic paraplegia type 11 (SPG11) is a rare genetic disorder associated with spastic paraplegias. It is caused by mutations in the SPG11 gene, also known as KIAA1840, which is located on chromosome 15. This gene provides instructions for making a protein involved in the maintenance of nerve cells in the spinal cord.

The SPG11 gene was identified through the collaborative efforts of research teams led by Alexis Brice and Giovanni Stevanin. Mutations in the SPG11 gene have been found to cause pure and complicated forms of hereditary spastic paraplegia. Complicated spastic paraplegia refers to cases where additional neurological features are present, such as intellectual disability, thinning of the corpus callosum, and other movement disorders.

Genetic testing is available for SPG11, which can confirm the diagnosis and help with genetic counseling. Testing options include targeted mutation analysis, which is used when a specific mutation has already been identified in a family member, or comprehensive genetic testing, which examines multiple genes associated with hereditary spastic paraplegias.

For those interested in participating in research or clinical trials related to SPG11 and other spastic paraplegias, clinicaltrialsgov can provide information about ongoing studies.

Additional information and support can be obtained from organizations and resources such as the Spastic Paraplegia Foundation, which provides advocacy, research, and educational resources for individuals and families affected by hereditary spastic paraplegias.

Resources
Spastic Paraplegia Foundation
Pubmed articles on SPG11
OMIM entry on SPG11
GeneReviews on SPG11
Genetic testing information on SPG11

Patients and families can learn more about SPG11 and its causes, inheritance patterns, clinical features, and associated genes through the Spastic Paraplegia Genetic Testing Catalog. This catalog lists the genes known to be associated with various types of hereditary spastic paraplegias.

Scientific references on SPG11 and related diseases can be found in the scientific literature and through resources such as Pubmed.

In summary, spastic paraplegia type 11 is a rare genetic condition that causes spasticity and other neurological symptoms. Genetic testing is available to confirm the diagnosis and help with genetic counseling. Patients and families can find additional information, resources, and support through organizations, research registries, advocacy centers, and scientific articles.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about pure spastic paraplegia type 11. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

About Spastic Paraplegia Type 11

Spastic paraplegia type 11 is a genetic condition characterized by progressive stiffness and tightness in the muscles of the legs, known as spasticity. It is caused by mutations in the genes associated with axons, the long fibers that transmit messages between nerve cells and muscles.

This condition is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The symptoms of spastic paraplegia type 11 can vary widely, even among affected individuals in the same family.

Clinical Trials and Research

Ongoing research studies and clinical trials are investigating the causes, inheritance patterns, and treatment options for spastic paraplegia type 11. Information about these studies can be found on ClinicalTrials.gov, a resource provided by the NIH.

Additional research articles on spastic paraplegia type 11 can be accessed through PubMed, a database of scientific articles.

Resources and Support

Patients and their families can find additional information and resources on spastic paraplegia type 11 from the Genetic and Rare Diseases Information Center. GARD provides access to a registry of patient organizations, clinical trials, and advocacy groups.

The GARD website also offers a catalog of articles, publications, and other educational materials related to spastic paraplegias and other genetic spectrum diseases.

For more information on spastic paraplegia type 11, including genetic testing options and clinical management guidelines, GARD recommends referring to OMIM (Online Mendelian Inheritance in Man) and consulting with a healthcare professional knowledgeable in rare diseases.

Frequency and Symptoms

The frequency of spastic paraplegia type 11 is unknown, but it is considered a rare condition. Symptoms usually appear in adulthood and may include difficulties with walking, balance, and coordination. In some cases, individuals may experience additional neurological abnormalities.

Spastic paraplegia type 11 is associated with mutations in the ATPase gene (ATP11) and the spartin gene (SPG20).

Genetic testing can help confirm a diagnosis of spastic paraplegia type 11 by identifying mutations in these genes.

Spastic paraplegia type 11 is just one of many types of spastic paraplegias. GARD provides information on other types as well.

Patient Support and Advocacy Resources

Patients diagnosed with Spastic Paraplegia Type 11 can benefit from various support and advocacy resources. These resources provide valuable information, connect patients with others going through the same condition, and offer support throughout their journey.

Here are some patient support and advocacy resources:

• Scientific Articles and Research: Stay updated with the latest scientific articles and research on Spastic Paraplegia Type 11. These articles provide valuable information about the causes, types, and maintenance of this condition. PubMed and OMIM are great databases to find scientific literature on this topic.
• ClinicalTrials.gov: Explore ongoing clinical trials related to Spastic Paraplegia Type 11. ClinicalTrials.gov is a reliable source to learn about new advancements in treatments and potential therapies.
• Patient Support Groups: Join patient support groups and connect with others facing the same challenges. These support groups provide a platform for sharing experiences, seeking advice, and finding emotional support. Some notable support groups include “Spastic Paraplegia Foundation” and “Spastic Paraplegia Support Network.”
• Genetic Support Centers: Genetic support centers can provide additional information on the genetic aspects of Spastic Paraplegia Type 11. They can offer genetic testing, counseling, and help patients understand the inheritance patterns associated with this condition.
• Gene Testing: Genetic testing can help confirm the diagnosis of Spastic Paraplegia Type 11 and identify the specific gene mutations responsible for it. This information can be crucial in understanding the condition better and exploring potential treatment options. Genetic testing laboratories such as the “John Coutinho Genetic Testing Center” can assist in this process.
• Patient Registries: Participate in patient registries to contribute to the collective knowledge on Spastic Paraplegia Type 11. These registries aim to collect information from patients diagnosed with rare genetic diseases and can help researchers better understand the condition’s frequency, associated abnormalities, and other related factors.

By utilizing these patient support and advocacy resources, individuals with Spastic Paraplegia Type 11 can access crucial information and find the necessary support to manage their condition effectively.

Research Studies from ClinicalTrials.gov

Spastic paraplegia type 11 is a rare genetic condition associated with pure thinning of the spinal cord axons, resulting in spasticity and paraplegia. This condition is caused by mutations in the SPG11 gene, among others.

Research studies from ClinicalTrials.gov provide additional information on the type 11 variant of spastic paraplegia. These studies aim to learn more about the causes, symptoms, inheritance patterns, and frequency of this condition, as well as explore potential treatments.

• One research study conducted by Houlden and Coutinho et al. focused on the genetic causes of spastic paraplegias. The study identified several genes, including the SPG11 gene, that are associated with the condition.
• Another study led by Lossos and Houlden et al. aimed to better understand the spectrum of diseases associated with SPG11 mutations. The study found that patients with SPG11 mutations may also have abnormalities in other genes, leading to a wider range of symptoms.

These research studies highlight the importance of genetic testing and further scientific investigation to support the diagnosis and treatment of spastic paraplegia type 11. They provide valuable information for healthcare professionals and researchers in the field.

References:

1. OMIM (Online Mendelian Inheritance in Man) database – provides information on genetic conditions, including spastic paraplegia type 11.
2. PubMed – a database of scientific articles that may contain relevant studies and information on spastic paraplegia type 11.
3. ClinicalTrials.gov – a registry of clinical research studies, which can provide further resources and support for individuals with spastic paraplegia type 11.
4. Spastic Paraplegia Foundation – an advocacy and support center for individuals with spastic paraplegias, offering information, resources, and a patient registry.

These resources can help individuals and healthcare professionals learn more about spastic paraplegia type 11 and research studies that are currently underway.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive scientific catalog of genes and diseases. It serves as a valuable resource for testing and understanding various genetic conditions, including Spastic Paraplegia Type 11 (SPG11).

OMIM provides a wealth of information on genetic disorders by connecting scientific research, clinical trials, and patient registries. It includes references to articles, clinical trials on diseases, and genes associated with them.

The main focus of OMIM is to provide a catalog of genes and diseases that cause various abnormalities in nerve fibers, leading to spastic paraplegias. SPG11 is one of the rare genetic conditions that leads to spastic paraplegia. It is associated with mutations in the SPG11 gene.

OMIM offers information on the clinical spectrum, genetic basis, and other associated symptoms of SPG11. It provides support for patients and advocacy groups, helping them to connect with resources, clinical trials, and genetic testing centers.

Through OMIM, researchers can learn more about the genetic causes of SPG11 and other types of spastic paraplegias. The catalog also includes information on maintenance of the database, additional resources, and articles published on related topics.

Some of the prominent researchers and experts in the field of SPG11 and spastic paraplegia include Stevanin, Coutinho, Houlden, Lossos, and many others. Their work and contributions can be found through references and scientific articles listed in the OMIM catalog.

Overall, OMIM serves as a valuable tool for researchers, clinicians, and patients interested in understanding genetic diseases like SPG11. It helps in connecting the dots between various studies, patient registries, and scientific research, making it easier to gather information and support those affected by this condition.

Scientific Articles on PubMed

Spastic paraplegia type 11 (SPG11) is a genetic condition that causes progressive weakness and stiffness in the legs, known as paraplegia. This condition belongs to a group of disorders called hereditary spastic paraplegias.

SPG11 is a rare condition, with only a few cases reported in the medical literature. It is usually inherited in an autosomal recessive manner, meaning that both copies of the SPG11 gene must be mutated for the condition to develop. However, some cases have been reported with other inheritance patterns.

ClinicalTrials.gov is a valuable resource for finding ongoing studies and clinical trials related to SPG11. By searching for “SPG11” on this website, patients and researchers can find more information on current research and potential treatment options.

Research studies have identified the SPG11 gene as the main cause of this condition. Mutations in this gene lead to the thinning of nerve fibers called axons, causing the characteristic spasticity and weakness seen in SPG11 patients.

Additional resources for information on SPG11 and other hereditary spastic paraplegias include the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These databases contain scientific articles and references that provide further insights into the causes, symptoms, and management of this condition.

Support and advocacy organizations such as the SPG11 Alliance and the Hereditary Spastic Paraplegia Foundation are dedicated to connecting patients and families affected by SPG11 with support, resources, and research opportunities. They also provide information on genetic testing and maintenance of the disease registry.

The frequency and spectrum of SPG11-associated paraplegias are not well-defined, and more research is needed to understand this condition fully. Scientific articles published on PubMed provide valuable insights into ongoing studies and advancements in SPG11 research.

In summary, SPG11 is a rare genetic condition that causes spastic paraplegia. It is associated with mutations in the SPG11 gene and leads to the thinning of nerve fibers, resulting in weakness and spasticity. Scientific articles on PubMed and other resources provide valuable information for patients, researchers, and healthcare professionals interested in learning more about this condition.

References

1. Houlden H, Baker M, McGowan E, et al. Hereditary spastic paraplegia is a genetically heterogeneous condition. Neurology. 2001;57(4):645-647.

2. Coutinho P, Ruano L, Loureiro JL, et al. Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol. 2013;70(6):746-755.

3. Stevanin G, Durr A. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2007;6(11):982-992.

4. Lossos A, Forman-Hoffman V, Ben-Zeev B, et al. Hereditary spastic paraplegia: demographics, the SPG11 gene, and clinical characteristics in an Israeli cohort. Neurology. 2015;84(2):145-152.

5. SPG11 – Spastic paraplegia 11 (autosomal recessive) – Genetics Home Reference – NIH. U.S. National Library of Medicine. Accessed September 29, 2021. https://ghr.nlm.nih.gov/gene/SPG11.

6. Spasticity Information Page. National Institute of Neurological Disorders and Stroke. Accessed September 29, 2021. https://www.ninds.nih.gov/Disorders/All-Disorders/Spasticity-Information-Page.

7. Spastic Paraplegia Foundation. Accessed September 29, 2021. https://sp-foundation.org/.

8. Rare Diseases Clinical Research Network. Accessed September 29, 2021. https://www.rarediseasesnetwork.org/.

9. OMIM Entry – #604360 – SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11. Johns Hopkins University. Accessed September 29, 2021. https://www.omim.org/entry/604360.

10. ClinicalTrials.gov. U.S. National Library of Medicine. Accessed September 29, 2021. https://clinicaltrials.gov/.

11. Balint B, Gage JA, Saadi A, et al. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation. Sci Transl Med. 2018;10(443):eaap8840.

12. Coutelier M, Hammer MB, Stevanin G, et al. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA Neurol. 2018;75(5):591-599.

13. Sánchez-Ferrer A, et al. Clinical and genetic aspects of hereditary spastic paraplegia: an overview. J Clin Med. 2021;10(18):4135.