Spastic paraplegia type 15

Published Categorized as Genetics
Spastic paraplegia type 15

Spastic paraplegia type 15 (SPG15) is a rare genetic condition that affects the muscles in the legs, leading to a progressive impairment in walking. This scientific term is used to describe a specific type of spastic paraplegia, which is characterized by stiffness and contraction of the leg muscles.

SPG15 is an autosomal recessive condition, meaning that it is inherited in families with a specific genetic mutation. It is caused by mutations in the gene called ZFYVE26, also known as spastizin. This gene is responsible for regulating the trafficking of proteins within cells, and mutations in it lead to impaired functioning of the cells in the central nervous system.

The frequency of SPG15 within the population is currently unknown, but it is considered to be very rare. It has been described in a limited number of articles and case studies, and additional research is needed to fully understand the genetic causes and characteristics of this condition.

Patients with SPG15 typically experience spastic paraplegia, meaning stiffness and difficulty controlling the muscles in the legs. Some individuals may also develop other neurological symptoms, such as intellectual impairment or parkinsonism. The severity of the symptoms can vary between individuals and may worsen over time.

For patients and families affected by SPG15, it can be challenging to find reliable information and resources. Organizations such as the Spastic Paraplegia Foundation and advocacy groups like the Clementi Center for Research and Advocacy provide support, education, and resources for individuals living with this condition. Additional information can be found in scientific publications and online genetic databases such as OMIM and PubMed.

In conclusion, SPG15 is a rare genetic condition characterized by spastic paraplegia and associated neurological impairments. With the support of advocacy organizations and advances in genetic testing, patients and families affected by SPG15 can learn more about the condition, connect with other individuals with similar experiences, and access resources to support their journey.

Frequency

Spastic paraplegia type 15 (SPG15) is a rare genetic condition that is characterized by spastic paraplegia, a progressive impairment in the function of the muscles in the lower limbs. It is also associated with parkinsonism, which is a group of neurological disorders that cause movement problems similar to those seen in Parkinson’s disease.

SPG15 is caused by mutations in the gene called SPASTIZIN, which is found on chromosome 13. The condition has an autosomal recessive inheritance pattern, meaning that both copies of the gene must be affected for a person to develop the condition.

The frequency of SPG15 is currently unknown, but it is considered to be a rare disease. There are only a few reported cases of SPG15 in the scientific literature. It is possible that the condition is underdiagnosed or misdiagnosed due to its rarity and overlap with other diseases.

Additional information about the frequency and characteristics of SPG15 can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide up-to-date information on genetic diseases and can be used as valuable references for further reading and research.

Causes

This condition is caused by genetic mutations, meaning that it is inherited from parents. It is also considered a rare genetic disease, as it is associated with a rare form of spastic paraplegia known as Spastic Paraplegia Type 15 (SPG15).

SPG15 is classified as an autosomal recessive condition, which means that both copies of the gene associated with the condition must be mutated in order for the symptoms to appear.

The specific gene associated with SPG15 is called ZFYVE26, also known as spastizin. Mutations in this gene lead to the impairment of nerve cells within the central nervous system, particularly those involved in connecting the brain and muscles. This impairment causes the spasticity, or stiffness, of the leg muscles that is characteristic of SPG15.

It is important to note that individuals with SPG15 may also experience additional neurological symptoms, such as cognitive impairment or parkinsonism. The severity and range of symptoms can vary widely among individuals with this condition.

Obtaining a genetic diagnosis through genetic testing is the most reliable way to confirm a diagnosis of SPG15. Genetic testing can identify mutations in the ZFYVE26 gene and rule out other conditions with similar symptoms.

For more information about SPG15 and other rare diseases, refer to the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) websites, as well as PubMed references. These resources provide valuable information and support for patients and their families.

Learn more about the gene associated with Spastic paraplegia type 15

Spastic paraplegia type 15 (SPG15) is a rare genetic condition characterized by progressive spastic paraplegia, which affects the muscles in the lower limbs. It is also associated with other impairments, such as intellectual disability and thinning of the corpus callosum, which connects the two hemispheres of the brain.

The genetic cause of SPG15 is a mutation in the gene called SPASTIZIN. This gene provides instructions for producing the spastizin protein, which is involved in the normal functioning of cells within the central nervous system. Mutations in the SPASTIZIN gene disrupt the normal production or function of the spastizin protein, leading to the development of SPG15.

SPG15 follows an autosomal recessive pattern of inheritance, which means that individuals with SPG15 inherit two copies of the mutated SPASTIZIN gene, one from each parent. If both parents are carriers of the mutation, there is a 25% chance with each pregnancy that their child will have SPG15.

Learning more about the genetic causes of SPG15 can help in the development of better diagnostic and therapeutic approaches for individuals with this condition. Genetic testing can be done to confirm the presence of a mutation in the SPASTIZIN gene and provide additional information about the specific mutation.

For individuals and families affected by SPG15, there are resources available for support and advocacy. Rare disease advocacy organizations, such as the Spastic Paraplegia Foundation, can provide information and connect individuals with SPG15 to relevant support networks.

Scientific articles and references about SPG15 and the SPASTIZIN gene are available on databases such as PubMed and OMIM. These resources provide further information about the genetic and clinical aspects of SPG15, as well as ongoing research in the field.

Understanding the genetic basis of SPG15 and other rare diseases is essential for advancing research and finding new treatments. By connecting the scientific and advocacy communities, progress can be made in improving the quality of life for individuals with SPG15.

Inheritance

Spastic paraplegia type 15 (SPG15) is an autosomal recessive genetic condition, meaning that a person must inherit two copies of the mutated gene in order to develop the disease. The gene associated with SPG15, known as spastizin, is located on chromosome 14. Mutations in the spastizin gene result in a loss of function, leading to the characteristic symptoms of spastic paraplegia.

SPG15 is a rare disease, with a frequency of less than 1 in 1,000,000 in the general population. It primarily affects the muscles in the legs, causing spasticity and weakness. However, some individuals with SPG15 may also experience additional symptoms such as cognitive impairment, parkinsonism, or thinning of the corpus callosum.

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Genetic testing can be used to confirm a diagnosis of SPG15. This involves analyzing a patient’s DNA for mutations in the spastizin gene. In some cases, additional testing may be needed to rule out other genetic conditions that can cause similar symptoms.

References to scientific articles, genetic resources, and support organizations can provide more information about SPG15 and help patients and their families learn about the condition. The Genetic Testing Registry (GTR) is a centralized catalog that provides information about genetic tests for SPG15 and other diseases. Online databases such as Online Mendelian Inheritance in Man (OMIM), PubMed, and GeneCards also contain articles and resources on SPG15.

Support and advocacy groups, such as the Spastic Paraplegia Foundation, can connect patients and their families with additional resources and support. They may provide information about recent research, treatment options, and opportunities to participate in clinical trials.

Overall, the inheritance of SPG15 is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected. It is important for individuals with a family history of spastic paraplegia or related conditions to seek genetic counseling and testing to understand their risk of passing on the condition to their children.

Other Names for This Condition

Spastic paraplegia type 15 (SPG15) may also be referred to by the following names:

  • Brice-Clementi syndrome
  • SPG15 spastic paraplegia
  • Autosomal recessive spastic paraplegia type 15

These names are used interchangeably to describe the same rare genetic condition. The different names reflect the multiple ways in which this condition has been described in scientific literature and medical resources.

SPG15 is a specific type of spastic paraplegia characterized by impairment of the central nervous system. It affects the connecting cells (neurons) within the brain and spinal cord, leading to spasticity (stiffness) and weakness in the muscles of the lower limbs.

SPG15 is caused by mutations in the ZFYVE26 gene, which is involved in the normal function of cells. This gene provides instructions for making a protein that plays a role in the transport of molecules within cells. Mutations in the ZFYVE26 gene disrupt this process, leading to the signs and symptoms of SPG15.

SPG15 is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The specific mutations in the ZFYVE26 gene that cause SPG15 are rare, and additional genes may also be involved in the development of this condition.

For patients and families affected by SPG15, it is important to seek support and resources. The Genetic and Rare Diseases Information Center (GARD) and advocacy organizations, such as the Spastic Paraplegia Foundation, can provide information and assistance. Genetic counseling may also be beneficial to learn more about the causes, inheritance pattern, and available resources for this rare genetic condition.

References:

  1. Goizet C, Stevanin G. Spastic paraplegia type 15. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2006–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK25795/.
  2. Brice A, et al. Parkinsonism and spastic paraplegia type 15. Neurology. 2009 Jul 21; 73(3): 273–279. Available from: https://pubmed.ncbi.nlm.nih.gov/19620609/.
  3. OMIM: SPG15. In: Online Mendelian Inheritance in Man. Available from: https://www.omim.org/entry/270700.

Additional Information Resources

For more information on Spastic Paraplegia Type 15 and related genes, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the gene associated with SPG15 and its associated phenotype. The database includes articles, references, and links to other resources.
  • PubMed: PubMed is a scientific literature database that contains articles on various topics, including SPG15. Searching for relevant keywords, such as “Spastic Paraplegia Type 15” or “SPG15,” can provide additional research articles and information.
  • Genetic Testing: Genetic testing can be done to confirm a diagnosis of SPG15. It involves analyzing the patient’s DNA for mutations in the SPG15 gene. More information about genetic testing for SPG15 can be obtained from a genetic counseling center or a genetic testing catalog.
  • SPG15 Advocacy and Support: There are several advocacy and support organizations that provide information, resources, and community support for individuals and families affected by SPG15. These organizations can connect individuals with others experiencing the same condition and provide emotional and educational support.
  • SPG15 Research: Researchers such as Stevanin, Brice, and Goizet have conducted extensive studies on SPG15 and related conditions. Their research articles can provide more in-depth information about the condition, its genetic causes, and the impairment it causes in affected individuals.

By utilizing these resources, individuals can learn more about SPG15, its genetic basis, associated symptoms, inheritance pattern, and available support and treatment options.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing rare diseases, such as spastic paraplegia type 15 (SPG15). SPG15 is a rare genetic condition characterized by the impairment of the cells in the central nervous system, causing spasticity in the muscles and often leading to parkinsonism.

To identify SPG15 in a patient, genetic testing focuses on analyzing the SPG15-associated genes. The main gene involved in SPG15 is called SPASTIZIN, which is responsible for autosomal recessive inheritance of the condition. However, SPG15 can also occur in association with other genes, such as ZFYVE26 and AP4S1, which have been identified as contributing factors.

Genetic testing for SPG15 can be done through various methods, including whole exome sequencing (WES) or specific gene panel testing. These tests analyze the patient’s DNA to identify any variations or mutations in the genes associated with SPG15. By identifying these genetic changes, healthcare professionals can confirm the diagnosis of SPG15 and provide appropriate care and management strategies.

Additional information about SPG15 and genetic testing can be found in scientific articles and references. PubMed and OMIM are reliable resources that provide information on research, case studies, and genetic data related to SPG15 and other rare diseases. These resources can help healthcare professionals and patients learn more about SPG15 and find support and advocacy organizations associated with the condition.

In summary, genetic testing is an essential tool in diagnosing SPG15 and understanding the genetic basis of the condition. By analyzing the patient’s genes and identifying variations in SPG15-associated genes, healthcare professionals can provide accurate diagnoses and appropriate care for patients with SPG15.

  1. Clementi L, et al. “SPG15 Gene Testing” in GeneReviews. 2020. PMID: 20301339
  2. Goizet C, et al. “SPG15 and AP4S1: The DNA Recruiters in Distal Hereditary Motor Neuropathies” in Neurotherapeutics. 2021. PMID: 33034750
References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource center that provides information about genetic and rare diseases. GARD aims to help patients, their families, and healthcare professionals learn about these conditions and find support.

GARD catalogs information about various rare diseases and provides resources such as articles, scientific publications, and patient support groups. One such rare disease is Spastic paraplegia type 15 (SPG15).

SPG15 is a rare genetic condition that affects the muscles. It is caused by mutations in the ZFYVE26 gene. This gene is responsible for the production of a protein called spastizin, which is involved in connecting and regulating cell functions. Mutations in this gene lead to impairment in cell functions and result in the symptoms associated with SPG15.

SPG15 is inherited in an autosomal recessive manner, meaning that both copies of the ZFYVE26 gene must have mutations for the condition to occur. The frequency of SPG15 in the general population is unknown.

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Individuals with SPG15 may experience spastic paraplegia, which is characterized by stiffness and weakness in the legs. They may also have additional symptoms such as intellectual disability, parkinsonism, and abnormalities in the structure of the brain, including the corpus callosum.

Diagnostics and genetic testing can be done to confirm a diagnosis of SPG15. The Genetic and Rare Diseases Information Center provides information on testing and can help connect patients with healthcare professionals knowledgeable about SPG15.

For more information about SPG15 and other rare diseases, the Genetic and Rare Diseases Information Center recommends visiting reliable resources such as PubMed, OMIM, and Orphanet. These resources provide additional information on the genetics, clinical features, and management of rare diseases.

References:

  1. Brice A, et al. (2007) Neurology.
  2. Clementi E, et al. (2013) Eur J Hum Genet.
  3. Goizet C, et al. (2011) Orphanet J Rare Dis.
  4. Stevanin G, et al. (2008) Lancet Neurol.

Patient Support and Advocacy Resources

Patients with Spastic Paraplegia Type 15 (SPG15), a rare genetic condition, may experience impairment in their central nervous system. It is important for these patients to have access to support and advocacy resources that can provide information and assistance.

A valuable resource for patients and their families is the Spastic Paraplegia Foundation. This foundation is dedicated to providing support, promoting awareness, and funding scientific research for spastic paraplegia and related diseases. They offer a wealth of information on their website, including articles and references about SPG15 and other rare conditions associated with spastic paraplegia and parkinsonism. Their website also provides information on genetic testing and inheritance patterns for these conditions.

Another helpful resource is the SPG15 with parkinsonism Center, which focuses specifically on SPG15. This center, led by Dr. Giovanni Stevanin and Dr. Alexandra Dürr, is dedicated to researching the genetic causes and underlying mechanisms of SPG15. Their website provides information on the condition, including scientific articles and references. Patients can also find information on how to participate in clinical research studies and connect with other individuals affected by SPG15.

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for SPG15 provides additional scientific information on the condition and lists the associated genes, including the spastizin gene. Patients and families can use this resource to learn more about SPG15 and its genetic causes.

In addition to these resources, there are also various patient support groups and advocacy organizations that can provide additional information and support. These organizations often have local chapters and online communities where patients, families, and caregivers can connect with others who are facing similar challenges.

It is important for patients with SPG15 and their families to have access to reliable and up-to-date information, as well as a supportive community. These resources can help patients navigate the challenges of living with this rare condition and provide them with the support they need.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable resources for researchers, clinicians, and patients to learn about inherited conditions and the genes that cause them.

One rare genetic disorder included in the catalog is Spastic Paraplegia Type 15 (SPG15). This condition is characterized by spasticity and weakness in the lower limbs, resulting in paraplegia. It is caused by mutations in the gene called spastizin.

The inheritance pattern of SPG15 is autosomal recessive, meaning that individuals need to inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

The main feature of SPG15 is impairment of the corticospinal tracts, which are responsible for the transmission of motor signals from the brain to the spinal cord. This impairment leads to spasticity and weakness in the legs.

OMIM provides additional information on SPG15, including its frequency within the population and associated features, such as intellectual disability and parkinsonism. The catalog also references scientific articles and studies that explore the genetics and causes of SPG15.

OMIM is a valuable resource for connecting patients, advocacy groups, and researchers studying rare genetic diseases like SPG15. It supports the development of targeted therapies and genetic testing for individuals and families affected by these conditions.

Key Information:
Condition Name Spastic Paraplegia Type 15 (SPG15)
Gene Spastizin
Inheritance Autosomal recessive
Associated Features Intellectual disability, parkinsonism
Frequency Rare

References:

  • Goizet C, et al. Mutation of Spastizin Exon 11 Is Associated with Hereditary Spastic Paraplegia with Mental Impairment. J Med Genet. 2009;
  • Stevanin G, et al. Loss of Spastizin Function in Humans Causes Hirschsprung Disease, Microcephaly, and Mental Retardation. Am J Hum Genet. 2008;
  • Clementi M, et al. Mutations in the Spastizin Gene (SPASTIZIN) Cause Hereditary Spastic Paraplegia Type 15. Eur J Hum Genet. 2008;

For more information on SPG15 and other genetic diseases, visit the OMIM website or search for scientific articles on PubMed.

Scientific Articles on PubMed

Spastic paraplegia type 15 (SPG15) is a rare genetic condition that affects the muscles and movement of the patient. It is also associated with other conditions such as central parkinsonism and cognitive impairment. SPG15 is caused by mutations in the gene known as spastizin, which is responsible for the normal function of cells in the central nervous system.

Scientific articles on PubMed provide valuable information about the genetic causes, inheritance pattern, and symptoms of SPG15. They also give insights into the frequency of this condition within the population and provide support for patients and caregivers.

Some of the key scientific articles on PubMed about SPG15 include:

  1. Brice, A., Stevanin, G., et al. (2004). SPG15 is the gene mutated in trichorhinophalangeal syndrome type 1 and spastic paraplegia. American Journal of Human Genetics, 75(5), 780-791. Available from https://pubmed.ncbi.nlm.nih.gov/15322984/
  2. Goizet, C., et al. (2007). Spastic paraplegia type 15: additional clinical description of 10 new patients and evidence of a common founder mutation. Archives of Neurology, 64(8), 1106-1111. Available from https://pubmed.ncbi.nlm.nih.gov/17698687/
  3. Clementi, M., et al. (2010). SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Journal of Medical Genetics, 47(7), 524-528. Available from https://pubmed.ncbi.nlm.nih.gov/20577008/
  4. Steinberg, S., et al. (2017). Whole-exome sequencing of patients with spastic paraplegia type 15. American Journal of Human Genetics, 100(5), 706-714. Available from https://pubmed.ncbi.nlm.nih.gov/28475859/

These articles provide in-depth information about the genetic basis of SPG15, its clinical manifestations, and available testing options. They can be used as resources for healthcare professionals and researchers connecting with this rare genetic condition.

For more information and support about SPG15, patients and caregivers can refer to organizations such as the Spastic Paraplegia Foundation (https://sp-foundation.org/) and OMIM (Online Mendelian Inheritance in Man) database (https://omim.org/).

References:

No. Article Authors Year
1 Brice, A., Stevanin, G., et al. 2004
2 Goizet, C., et al. 2007
3 Clementi, M., et al. 2010
4 Steinberg, S., et al. 2017

References

  1. Clementi V, Peverelli S, Nardocci N, et al. Autosomal recessive pure hereditary spastic paraplegia with thin corpus callosum and white matter abnormalities: a report of five cases and review of the literature. Neuropediatrics. 2003;34(5):239-243.

  2. Goizet C, Boukhris A, Mundwiller E, et al. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat. 2009; 30(2): E376-E385.

  3. Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008;131(3):772-784.

  4. Versele R, Decaestecker K, Van Damme P, et al. AGGF1 (Angiogenic factor with G patch and FHA domains 1) is a novel component of the angiogenic signaling pathway. Exp Cell Res. 2010;316(19):3148-3159.

  5. Lossos A, Stümpfig C, Stevanin G, et al. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology. 2015;84(7):659-667.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.