Autosomal Recessive Parkinson Disease 14
Disease Details
Family Health Simplified
- Description
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Autosomal recessive Parkinson disease 14 (PARK14) is a hereditary form of Parkinson's disease characterized by early-onset symptoms, typically including tremors, rigidity, and bradykinesia due to mutations in the PLA2G6 gene.
One-sentence description:
PARK14 is a genetic form of early-onset Parkinson's disease caused by mutations in the PLA2G6 gene, leading to motor and neurological symptoms. - Type
- Autosomal Recessive Parkinson Disease 14 (PARK14) is transmitted through an autosomal recessive inheritance pattern.
- Signs And Symptoms
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Autosomal Recessive Parkinson Disease 14 (AR-PD 14) is a form of Parkinson's disease caused by mutations in the PLA2G6 gene.
**Signs and Symptoms:**
- Early-onset Parkinsonism, often before the age of 40.
- Motor symptoms, including bradykinesia (slowness of movement), rigidity, and tremors.
- Non-motor symptoms, such as depression, anxiety, and cognitive impairment.
- Dystonia (involuntary muscle contractions).
- Progressive worsening of neurological function. - Prognosis
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Autosomal Recessive Parkinson Disease 14 (PARK14) is a rare genetic form of Parkinson's disease associated with mutations in the PLA2G6 gene.
**Prognosis:**
The progression of Parkinson's disease, including PARK14, can vary from person to person. Generally, Parkinson's disease is a progressive disorder that worsens over time, but the rate of progression and severity of symptoms can differ. People with PARK14 typically experience early-onset symptoms, including tremors, rigidity, bradykinesia (slowness of movement), and postural instability. Cognitive decline and psychiatric symptoms can also be present as the disease advances. Supportive therapies, medications, and in some cases, surgical interventions like deep brain stimulation can help manage symptoms and improve quality of life, but these do not cure the disease. The overall prognosis involves a gradual decline in motor and cognitive function.
"NAN" is not defined in this context. If referring to a specific aspect like a gene variant notation, please provide additional details. - Onset
- Autosomal recessive Parkinson disease 14 typically has an early onset, often beginning in childhood or early adulthood, generally before the age of 20.
- Prevalence
- Autosomal recessive Parkinson disease 14 (PARK14) is an extremely rare form of Parkinson's disease. The exact prevalence is not well-documented, often noted in scientific literature with limited case reports, suggesting it is very uncommon. It is caused by mutations in the PLA2G6 gene.
- Epidemiology
- Autosomal recessive Parkinson disease 14 (PARK14) is an extremely rare form of Parkinson's disease. Due to its rarity, specific epidemiological data are not well-documented. In general, autosomal recessive forms of Parkinson's disease tend to present earlier in life compared to the more common idiopathic forms, often manifesting in younger individuals.
- Intractability
- Yes, Autosomal Recessive Parkinson Disease 14 (ARPD14) is generally considered intractable. This means that it lacks effective treatments to halt or reverse disease progression. Current management primarily focuses on symptom relief rather than curing the disease.
- Disease Severity
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The severity of autosomal recessive Parkinson disease 14 (PARK14) varies significantly among individuals. It typically presents with early-onset symptoms, including bradykinesia, rigidity, and tremor. Over time, the disease can lead to substantial motor and non-motor impairments. Early intervention and management can help alleviate some symptoms, but the progression of the disease can result in a decrease in quality of life.
For "nan" (not a number), this term is not applicable in the context of disease description or severity and might be a placeholder or error in the query. - Pathophysiology
- Autosomal recessive Parkinson disease 14 (AR-PD14) is linked to mutations in the PLA2G6 gene. This gene encodes for the enzyme phospholipase A2 group VI (PLA2G6), which is involved in lipid metabolism and membrane homeostasis within cells. Pathophysiologically, deficiencies in this enzyme lead to abnormal membrane remodeling and increased susceptibility to oxidative stress, ultimately contributing to neurodegeneration. This results in the characteristic motor and non-motor symptoms of Parkinson's disease, such as bradykinesia, tremor, rigidity, and cognitive impairment.
- Carrier Status
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For autosomal recessive Parkinson disease 14 (AR-PD 14):
Carrier Status: A carrier of AR-PD 14 possesses one mutated copy of the associated gene (one from one parent) but does not typically display symptoms. Both parents must be carriers for a child to have a 25% chance of inheriting two mutated copies and developing the disease. - Mechanism
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Autosomal recessive Parkinson disease 14 (PARK14) is primarily linked to mutations in the PLA2G6 gene, which encodes the enzyme phospholipase A2 group VI. This condition is part of a group of neurodegenerative disorders called neurodegeneration with brain iron accumulation (NBIA).
**Mechanism:**
PARK14 is characterized by dopaminergic neuron degeneration in the substantia nigra, leading to the common features of Parkinson's disease, such as bradykinesia, tremors, and rigidity. The autosomal recessive inheritance means that individuals with PARK14 have inherited two defective copies of the PLA2G6 gene, one from each parent.
**Molecular Mechanisms:**
1. **PLA2G6 Mutation**: Mutations in PLA2G6 disrupt the normal activity of the iPLA2-VI enzyme, which plays a crucial role in membrane phospholipid remodeling and the regulation of mitochondrial function.
2. **Lipid Metabolism**: Defective iPLA2-VI enzyme impairs membrane phospholipid homeostasis, leading to neurotoxic accumulation of abnormal lipids.
3. **Mitochondrial Dysfunction**: Impaired enzymatic activity affects mitochondrial integrity and function, contributing to increased oxidative stress and neuronal cell death.
4. **Iron Accumulation**: Disrupted lipid metabolism and mitochondrial dysfunction can contribute to abnormal iron accumulation in the brain, exacerbating neural damage and accelerating disease progression.
These molecular pathways collectively lead to the progressive neurodegeneration observed in PARK14, manifesting as the movement-related symptoms characteristic of Parkinson's disease. - Treatment
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Autosomal Recessive Parkinson Disease 14 (AR-PD 14) is a form of Parkinson's disease caused by mutations in the DNAJC6 gene. Due to its genetic nature, management primarily focuses on symptom relief rather than a cure. Treatment may involve a combination of:
1. **Medications**:
- Levodopa combined with carbidopa to manage motor symptoms.
- Dopamine agonists and MAO-B inhibitors as adjunct therapies.
- Other symptomatic treatments depending on specific patient needs.
2. **Physical Therapy**:
- To improve mobility, strength, and balance.
- Tailored exercises to prevent stiffness and maintain flexibility.
3. **Occupational Therapy**:
- Assistance with daily activities.
- Techniques and tools to maintain independence.
4. **Speech Therapy**:
- Addressing speech and swallowing difficulties.
5. **Supportive Measures**:
- Nutritional support and diet adjustments.
- Counseling and support groups for emotional and psychological support.
6. **Regular Monitoring**:
- Routine follow-ups with neurology specialists to adjust treatment as necessary.
Currently, no disease-modifying treatments are available specifically for AR-PD 14, and research is ongoing to better understand and develop targeted therapies. - Compassionate Use Treatment
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For autosomal recessive Parkinson disease 14 (ARPD14), a rare genetic form of Parkinson's, treatments are primarily experimental and focus on symptom management and potential neuroprotective strategies. Compassionate use treatments and off-label options may include:
1. **Levodopa or Dopamine Agonists**: These are standard treatments for Parkinson's symptoms that might be used despite a lack of specific approval for ARPD14.
2. **Deep Brain Stimulation (DBS)**: Although typically used in more common forms of Parkinson’s, DBS may be considered under compassionate use for ARPD14 patients with severe symptoms.
3. **Gene Therapy**: Experimental gene therapies aiming to correct the underlying genetic mutations are being researched and may be available under compassionate use.
4. **Neuroprotective Agents**: Substances like Coenzyme Q10 or certain antioxidants might be recommended off-label to attempt to protect nerve cells from further degeneration.
It's crucial to work closely with a healthcare provider to consider these options, as they will have the most current information on available treatments and ongoing clinical trials. - Lifestyle Recommendations
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Autosomal Recessive Parkinson Disease 14 (PARK14), caused by mutations in the PLA2G6 gene, follows a set of recommendations similar to other forms of Parkinson's disease. These may include:
1. **Regular Exercise**: Engaging in activities like walking, swimming, yoga, or tai chi can help maintain mobility, balance, and overall health.
2. **Healthy Diet**: Consuming a balanced diet rich in fruits, vegetables, whole grains, and lean proteins can support overall health and potentially mitigate symptoms.
3. **Medication Management**: It's vital to take medications as prescribed and consult healthcare professionals regularly to manage symptoms effectively.
4. **Physical Therapy**: Working with a physical therapist can help improve movement, balance, and strength.
5. **Occupational Therapy**: This can aid in maintaining daily living activities and improving the quality of life.
6. **Adequate Rest**: Prioritizing sleep and managing stress through relaxation techniques can enhance overall well-being.
7. **Social Engagement**: Staying socially active can help prevent isolation and depression, which are common in chronic conditions.
Consultation with healthcare providers for personalized advice and management is crucial. - Medication
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Autosomal recessive Parkinson disease 14 (PARK14) is caused by mutations in the PLA2G6 gene. Management of PARK14 involves symptomatic treatment similar to other forms of Parkinson's disease. Medications commonly used include:
1. Levodopa: Often combined with carbidopa, it is the most effective medication for symptom management.
2. Dopamine agonists: Such as pramipexole and ropinirole, which mimic dopamine effects in the brain.
3. MAO-B inhibitors: Like selegiline and rasagiline, which help to increase and prolong the action of dopamine.
Treatment plans should be individualized, and it is crucial to work with a healthcare provider to manage the disease effectively. - Repurposable Drugs
- There is currently limited information available on repurposed drugs specifically for autosomal recessive Parkinson disease 14 (PARK14). Treatment typically focuses on managing symptoms and may include medications commonly used for other forms of Parkinson's disease, such as levodopa and dopamine agonists. Further research is needed to identify and validate repurposable drugs for this specific genetic form of Parkinson's disease.
- Metabolites
- Autosomal Recessive Parkinson Disease 14 (PARK14) is a subtype of Parkinson's disease caused by mutations in the PLA2G6 gene. Metabolites involved are typically associated with disruptions in lipid metabolism due to the role of the PLA2G6 gene in phospholipid hydrolysis. Detailed metabolic profiling can reveal altered levels of specific lipids and other related metabolites in affected individuals, although specific metabolite changes can vary.
- Nutraceuticals
- For autosomal recessive Parkinson disease 14 (PARK14), there is currently no specific nutraceutical known to directly treat or alter the course of this genetic condition. Management primarily focuses on symptom relief through conventional medications and supportive therapies. Always consult with healthcare providers before starting any new treatments or supplements.
- Peptides
- Autosomal recessive Parkinson disease 14 (PARK14) is associated with mutations in the PLA2G6 gene. This gene encodes an enzyme called Calcium-independent phospholipase A2 group VIA. While peptides specifically related to this genetic form of Parkinson's disease are not typically a focus, research into therapeutic peptides for neurodegenerative processes or targeting protein misfolding and aggregation may be relevant. Nanotechnology in this context can potentially involve the development of nanoparticles for targeted drug delivery or diagnostic imaging to improve therapeutic outcomes for Parkinson's disease.