Autosomal Recessive Early-onset Parkinson's Disease 23
Disease Details
Family Health Simplified
- Description
- Autosomal recessive early-onset Parkinson's disease 23 is a neurodegenerative disorder characterized by early-onset parkinsonism, often before the age of 50.
- Type
- Autosomal recessive early-onset Parkinson's disease 23 (PARK23) is transmitted through autosomal recessive inheritance.
- Signs And Symptoms
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Autosomal recessive early-onset Parkinson's disease 23 (PARK23) is a form of Parkinson's disease characterized by early onset, typically before the age of 50.
Signs and symptoms of PARK23 include:
- Resting tremor
- Bradykinesia (slowness of movement)
- Muscle rigidity
- Postural instability and balance problems
- Freezing of gait (sudden and temporary inability to move)
- Dyskinesia (involuntary, erratic movements)
- Decreased facial expression (hypomimia)
- Micrographia (small, cramped handwriting)
- Sleep disturbances
- Mood disorders such as depression or anxiety
Patients may also experience non-motor symptoms, including autonomic dysfunction (such as constipation and orthostatic hypotension), cognitive changes, and sensory abnormalities.
Given this format, if the field "nan" refers to a specific additional information request or if you need further details, please clarify. - Prognosis
- Autosomal Recessive Early-Onset Parkinson's Disease 23 (PARK23) is a form of Parkinson's disease characterized by early onset, typically before the age of 50. The prognosis for individuals with PARK23 varies widely depending on several factors, including the specific mutations involved, the presence of other health conditions, and the effectiveness of treatments. Generally, Parkinson's disease is a progressive disorder, meaning symptoms tend to worsen over time. While there is currently no cure, various treatments such as medications, physical therapy, and lifestyle changes can help manage symptoms and improve quality of life. The progression rate and severity of symptoms can vary significantly among individuals.
- Onset
- Autosomal recessive early-onset Parkinson's disease-23 (PARK23) typically presents clinical features early, often before the age of 50. The average onset age for this form of Parkinson’s disease is in the mid-30s to early 40s.
- Prevalence
- The term "nan" refers to "not a number" and suggests that specific prevalence data for Autosomal Recessive Early-Onset Parkinson's Disease 23 (PARK23) may not be available or well-documented in current medical literature. Early-onset Parkinson's disease is relatively rare, and PARK23 is one of several genetic subtypes, with each subtype potentially having very low prevalence.
- Epidemiology
- Autosomal recessive early-onset Parkinson's disease 23 is a subtype of Parkinson's disease characterized by its early onset, generally before the age of 50, and inherited in an autosomal recessive manner. The epidemiology is not fully detailed in available literature. However, early-onset forms of Parkinson's disease are relatively rare compared to the more common late-onset form. Specific prevalence and incidence rates for this particular subtype are not well-documented, making it difficult to provide definitive epidemiological data.
- Intractability
- Autosomal recessive early-onset Parkinson's disease 23 (PARK23) is characterized by symptoms that emerge at a young age. Managing the disease can be challenging, particularly due to its early onset and genetic basis, but it is not entirely intractable. Treatment typically focuses on managing symptoms and may include medications, physical therapy, and lifestyle changes. Research is ongoing to find more effective treatments and potential cures.
- Disease Severity
- The severity of autosomal recessive early-onset Parkinson's disease 23 can vary widely among affected individuals. Generally, it tends to manifest with symptoms such as tremor, bradykinesia, rigidity, and postural instability at a younger age compared to typical Parkinson's disease. The progression may be gradual, but symptoms can be disabling over time. The specific severity of the disease can depend on genetic and environmental factors.
- Healthcare Professionals
- Disease Ontology ID - DOID:0060896
- Pathophysiology
- Autosomal recessive early-onset Parkinson's disease 23 (PARK23) is linked to mutations in the gene encoding syntaxin 1B (STX1B). The pathophysiology involves disrupted synaptic vesicle exocytosis due to impaired function of syntaxin 1B, which is crucial for neurotransmitter release. This disruption leads to deficits in dopaminergic signaling in the substantia nigra, contributing to the motor symptoms characteristic of Parkinson's disease.
- Carrier Status
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Autosomal recessive early-onset Parkinson's disease 23 (PARK23) is a type of Parkinson's disease that typically manifests at an early age and follows an autosomal recessive inheritance pattern.
Carrier status: Individuals carrying one mutated copy of the causative gene (e.g., VPS13C) are considered carriers. Carriers typically do not show symptoms of the disease. However, if both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop the disease.
Note: "nan" refers to "not a number," which is not applicable in this context. If you intended to ask something specific, please provide more details. - Mechanism
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Autosomal recessive early-onset Parkinson's disease 23 (PARK23) is linked to mutations in the podocan-like 1 (PODNL1) gene. The molecular mechanism underlying PARK23 involves disturbances in several cellular processes:
1. **Protein Aggregation**: Mutations in PODNL1 can lead to the misfolding or improper functioning of proteins. This misfolding can result in the accumulation of protein aggregates that are toxic to neurons.
2. **Mitochondrial Dysfunction**: Mutations may also impair mitochondrial function, leading to reduced energy production and increased oxidative stress. Neurons are particularly sensitive to mitochondrial dysfunction due to their high energy demands.
3. **Ubiquitin-Proteasome System Deficiency**: Synuclein or other proteins might not be adequately degraded, resulting in accumulation and formation of Lewy bodies, which are characteristic of Parkinson's disease pathology.
4. **Impaired Autophagy**: Proper degradation of cellular waste can be compromised, leading to the build-up of toxic substances within neurons.
5. **Neuronal Death**: These molecular disruptions culminate in the gradual death of dopaminergic neurons in the substantia nigra, which is a hallmark of Parkinson’s disease and results in motor symptoms like tremors, rigidity, and bradykinesia.
Understanding these molecular mechanisms is essential for developing targeted therapies for PARK23. - Treatment
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For autosomal recessive early-onset Parkinson's disease (often linked to mutations in the PRKN gene), treatment primarily focuses on managing symptoms. This can include:
1. **Medications**:
- **Levodopa**: Often combined with carbidopa to reduce symptoms.
- **Dopamine Agonists**: Such as pramipexole or ropinirole.
- **MAO-B Inhibitors**: Like selegiline or rasagiline.
- **COMT Inhibitors**: Entacapone or tolcapone to prolong the effect of levodopa.
2. **Physical Therapy**: To improve mobility, strength, and flexibility.
3. **Occupational Therapy**: To assist in daily activities and improve independence.
4. **Speech Therapy**: For individuals experiencing speech and swallowing difficulties.
5. **Surgical Treatments**:
- Deep Brain Stimulation (DBS): May be considered for severe cases not adequately controlled with medication.
There are no definitive cures, so treatment aims to manage and reduce symptoms, improving the quality of life. Treatment plans are tailored to individual needs and regularly adjusted based on the progression of the disease. - Compassionate Use Treatment
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Autosomal recessive early-onset Parkinson's disease (AR EOPD) 23, often linked to variants in the PINK1 gene, currently lacks a cure. Compassionate use treatments and experimental approaches provide some options:
1. **Compassionate Use Treatments**:
- **Levodopa/Carbidopa**: While it's primarily used for idiopathic Parkinson's, it can help mitigate motor symptoms in AR EOPD.
- **Dopamine Agonists**: Medications like pramipexole or ropinirole may be used under compassionate use to manage symptoms.
2. **Off-label or Experimental Treatments**:
- **Rasagiline**: An MAO-B inhibitor typically used in idiopathic Parkinson's, rasagiline may be prescribed off-label.
- **Gene Therapy**: Experimental approaches aim at correcting the genetic defect in the PINK1 gene. These are in preliminary stages of research.
- **Stem Cell Therapy**: Investigations are ongoing to determine the efficacy of stem cell transplants in regenerating dopaminergic neurons.
- **Neuroprotective Agents**: Substances like creatine and coenzyme Q10 are being studied for their potential neuroprotective effects.
Patients should consult with specialists who are knowledgeable about AR EOPD for access to ongoing clinical trials and emerging treatments. - Lifestyle Recommendations
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For autosomal recessive early-onset Parkinson's disease 23 (PARK23), lifestyle recommendations include:
1. **Regular Physical Activity**: Engage in consistent, moderate exercise such as walking, swimming, or yoga to improve mobility, balance, and overall physical health.
2. **Balanced Diet**: Maintain a well-rounded diet rich in fruits, vegetables, whole grains, and lean proteins to support overall health and potentially slow disease progression.
3. **Mental Health**: Practice stress management techniques such as meditation, mindfulness, or counseling to maintain mental well-being.
4. **Sleep Hygiene**: Establish and maintain a consistent sleep routine to ensure restorative rest.
5. **Social Engagement**: Stay socially active to combat isolation and depression; consider joining support groups for individuals with Parkinson's disease.
6. **Avoid Toxins**: Limit exposure to environmental toxins or pollutants that may exacerbate symptoms. - Medication
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For Autosomal Recessive Early-Onset Parkinson's Disease (PARK23), often medications used are similar to those for idiopathic Parkinson's disease and may include:
1. **Levodopa/Carbidopa**: Commonly used to replenish dopamine levels.
2. **Dopamine Agonists**: Such as pramipexole or ropinirole to stimulate dopamine receptors.
3. **MAO-B Inhibitors**: Such as selegiline or rasagiline to reduce the breakdown of brain dopamine.
4. **COMT Inhibitors**: Such as entacapone to prolong the effect of levodopa.
Medications are aimed at managing symptoms as there is currently no cure for the disease. Individual treatment plans should be tailored based on specific patient needs and under the guidance of a healthcare professional. - Repurposable Drugs
- Currently, there are no specific drugs identified as repurposable for autosomal recessive early-onset Parkinson's disease 23 (PARK23). Research is ongoing to better understand the disease mechanisms and to identify potential therapeutic options. It's important to consult with medical professionals and keep an eye on current research for any emerging treatments.
- Metabolites
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There is no specific, widely recognized condition explicitly named "autosomal recessive early-onset Parkinson's disease 23" in standard medical references. However, there are several types of early-onset Parkinson’s disease (EOPD) that can be caused by autosomal recessive inheritance, often involving mutations in genes such as PARK2 (Parkin), PINK1, and DJ-1.
In the context of autosomal recessive early-onset Parkinson's disease (AR-EOPD), common metabolic features may include alterations in dopamine metabolism due to the degeneration of dopaminergic neurons in the substantia nigra. Specific metabolites involved or altered in AR-EOPD can often include:
1. **Dopamine**: Reduced levels because of the degeneration of dopaminergic neurons.
2. **Homovanillic Acid (HVA)**: Often reduced as it is a major dopamine metabolite.
3. **3,4-Dihydroxyphenylacetic acid (DOPAC)**: Also typically reduced as another dopamine metabolite.
4. **Urate**: May be either increased or decreased; some studies suggest lower urate levels are associated with Parkinson's disease.
5. **Oxidative stress markers**: Increased due to mitochondrial dysfunction often observed in Parkinson's, especially with PINK1 and Parkin mutations.
For specific metabolic profiling and diagnosis, targeted and untargeted metabolomics approaches in clinical research settings can identify a broader spectrum of metabolites linked to the disease. - Nutraceuticals
- There is currently no specific information about nutraceuticals for autosomal recessive early-onset Parkinson's disease 23 (PARK23). Generally, managing Parkinson's disease may involve dietary supplements that support overall brain health, but these should be tailored to individual needs and discussed with a healthcare provider.
- Peptides
- For autosomal recessive early-onset Parkinson's disease 23 (PARK23), which is linked to mutations in the VPS13C gene, peptides could be explored in research as potential biomarkers or therapeutic targets. Peptides could potentially influence the pathways involved in PARK23, specifically those related to protein degradation and mitochondrial function. However, the role of specific peptides in this disease remains an area of ongoing research.