What is Fahr Syndrome?

Fahr disease, also known as bilateral strio-pallido-dentate calcinosis, primary familial brain calcification, or calcinosis nucleorum, was first discovered by Karl Theodor Fahr, a German neurologist, in the year 1930. This disease is quite rare and involves unusual buildup of calcium deposits in certain parts of the brain, primarily, a part called the basal ganglia. In layman’s terms, you can think of these deposits as mineral buildups that do not belong in the brain. Calcium carbonate and phosphate are some of the materials found in these deposits.

Fahr disease is often genetically inherited, meaning it’s typically passed down from parents to their children. However, it’s not exclusive to the basal ganglia. These mineral deposits can also occur in other areas of the brain such as the thalamus, hippocampus, dentate nucleus, cerebral cortex, and the cerebellar subcortical white matter.

The terms “Fahr disease” and “Fahr syndrome” are commonly used interchangeably in medical literature. However, there’s some debate about this. Some argue that Fahr disease should be the term used when this condition happens with no known cause. On the other hand, Fahr syndrome should refer to the same condition but when there’s a known underlying cause.

What Causes Fahr Syndrome?

Fahr disease is a condition often passed down through families, meaning it’s inherited. More often, it’s inherited in a way that means not everyone in the family will get it and it might become more likely with age. However, sometimes Fahr disease can also be passed down in a different manner or even occur out of the blue.

Scientists have linked four specific genes to Fahr disease. A gene called SLC20A2 on chromosome 8 has a malfunction in around 40% of cases. Another gene, XPR1 on chromosome 1, has a problem in around 2% of cases. Two other genes, PDGFRB on chromosome 5 and PDGFB on chromosome 22, are also implicated, contributing to around 2% and 11% of cases respectively. However, in almost half of the cases (46%), the gene mutations that cause Fahr disease are unknown.

Several locations within our DNA – known as ‘loci’ – have also been associated with Fahr disease, including places on chromosome 14, 2, and 8.

The discovery of these genes associated with Fahr disease suggests that the older term for this condition, ‘idiopathic basal ganglia calcification’ – which means calcium deposits in the brain with unknown cause – should no longer be used.

Risk Factors and Frequency for Fahr Syndrome

Fahr disease typically affects people in their middle age, especially those in their 40s and 50s. Most of these individuals enjoy a healthy youth before developing this progressive mental disorder in their later years. Unfortunately, we still don’t have a clear idea of how many people suffer from this disease because there’s not enough research concerning the immediate family members of the patients.

Signs and Symptoms of Fahr Syndrome

The symptoms of this medical condition can be grouped into three categories: movement disorder-like features, neuropsychiatric features, and other symptoms related to the central nervous system (CNS).

  • Movement disorder-like features might look similar to those of Parkinson’s disease and include:
    • Slow movement
    • Rigidity
    • Tremors
    • Slight or soft speech
    • Reduced facial expression
    • A shuffled walk
    • Clumsiness
    • Getting tired easily
    • Problems with walking
    • Involuntary, flowing, writhing movements (choreoathetosis)
    • Involuntary muscle contractions or distortions (dystonia)
    • Slurred speech
    • Muscle cramps
    • Problems with walking or coordination (rarely)
  • Neuropsychiatric features can involve:
    • Depression
    • Stroke-like symptoms (apoplexia)
    • Dementia, mostly similar to those seen in Wilson’s disease and Huntington’s disease
    • Difficulty concentrating
    • Changes in behavior
  • Other CNS features can include:
    • Loss of consciousness
    • Muscle spasms (tetany)
    • Seizures
    • Stiffness and restrictions in the body’s movements (spasticity)
    • Speech problems
    • Jerky, sporadic, involuntary, quick movements (myoclonus)
    • Coma
    • Swelling of the optic disk (papilledema)
    • Chronic headaches
    • Dizziness or vertigo
    • Feeling a sudden, strong urge to urinate or inability to control urination
    • Impotence
    • Severe high blood pressure

A research study conducted by Batla and colleagues discovered some patterns in the symptoms of this disease and genetic abnormalities. For example, they found that people with mutations in the SLC20A2 gene were more likely to have Parkinson-like symptoms and abnormalities in some parts of the brain (the thalamus and dentate nucleus). Those with mutations in the PDGFB gene often reported headaches and had cysts in the white matter of the brain.

A physical examination for this condition would involve:

  • A general physical examination
  • A complete neurological examination
  • Mental health screening
  • Memory and cognitive assessment
  • Functional outcome measures, including:
    • Functional Independence Measure (a method for assessing disability)
    • Dynamic Gait Index (a measure of gait, balance, and fall risk)
    • Timed Up and Go Test (a simple test to assess a person’s mobility)
    • Fullerton Advanced Balance Scale (another test to assess balance)

Testing for Fahr Syndrome

Fahr disease, also known as brain stone disease, is a rare, inherited neurological disorder. It’s known for causing progressive nerve damage and brain calcification, which is when calcium builds up in certain areas of the brain. The diagnosis of this disease typically depends on the presence of a few critical factors.

These include the progression of nerve dysfunction that that can start at any age, evidence of brain calcification through imaging, the absence of hormone-related, mitochondrial, or other systemic disorders, no indication of infections, toxins, or trauma, and a family history of the disease.

Doctors often need to carry out several tests to rule out other causes of brain calcification. These include general blood tests and a complete metabolic panel, tests for heavy metals levels in the blood and urine, checks for calcium and other substance levels in the blood, and an analysis testing for bacteria, viruses and parasites in the cerebrospinal fluid – the fluid present in the brain and spinal cord.

More intensive tests can also be run to get more details. A brain CT scan can help identify and assess calcium deposits in the brain, which are a common symptom of Fahr disease. An MRI provides more detailed images of the brain, although it’s less effective than a CT scan at detecting calcium deposits. A PET scan may be done to check for reduced functioning in certain parts of the brain.

Lastly, molecular genetic tests are conducted to verify if Fahr disease is the cause of these symptoms. These tests involve looking at specific genes – SLC20A2, PDGFB, PDGFRB, XPR1 – that are often associated with Fahr disease. Single gene testing (serial gene testing), multiple gene testing (multigene panel), and complete genetic mapping (comprehensive genomic testing) are the three approaches that can be taken.

Treatment Options for Fahr Syndrome

Fahr disease is a type of neurodegenerative disorder, which means it’s a condition that causes the brain and nerves to deteriorate over time. Unfortunately, at this point, there isn’t a cure for Fahr disease. However, care and treatment primarily focus on reducing symptoms and improving quality of life.

The kinds of treatments used can depend on what symptoms a person is experiencing. For instance, medications for stopping seizures, also known as antiepileptic therapy, can be used if the person has epilepsy. If headaches are a problem, then pain killers could be used. For urinary issues such as feeling an urgent need to pee or not being able to control the bladder, anticholinergic medicines could be helpful. SSRIs, a type of antidepressant, can be used for mental health problems like depression, as well as anxiety, and obsessive-compulsive behaviors. Lastly, there are medications called neuroleptics which can help with movement disorders.

However, doctors need to be careful when prescribing certain medications. Medications like carbamazepine, benzipenes, and barbiturates often lead to difficulties with walking or balance in patients with Fahr disease. It’s also important to monitor the use of anti-depressants and anxiety medications, as patients with Fahr disease may be more likely to experience side effects. Moreover, Lithium can increase the risk of seizures, and neuroleptics can make certain movement symptoms worse.

Physical rehabilitation can also play a key role in management of Fahr disease. This can include exercises to maintain movement range and prevent stiffness, programs to strengthen weak muscles, activities to improve posture and stability, and assistance with walking problems. Techniques to reduce anxiety, like deep brain stimulation for movement disorders, soft tissue release for muscle stiffness, or sensory stimulation for individuals with basal ganglia dysfunction are also considered.

Genetic counseling is also part of managing Fahr disease. Fahr disease is an inherited disorder, meaning it’s passed down through families. However, a family’s history may not always provide a clear answer as the disease can manifest late in life or not at all in some carriers. While there are tests that can be done to predict the disease, they are typically provided to adults only and after careful consideration of the potential impacts, as no curative treatment is available.

Prenatal testing and specific genetic diagnosis are possible in high-risk pregnancies where the faulty gene is detected in the parent. While regular yearly assessments by a neurologist and a psychiatrist are also recommended.

Basal ganglia calcifications, which are abnormal deposits of calcium in the brain, can occur due to various health conditions. Before a diagnosis of primary familial basal ganglia calcification can be made, these other conditions have to be ruled out. Here are some of them:

  • Endocrine Disorders: Disorders affecting the parathyroid hormone are a common cause, often due to abnormalities in calcium and phosphate levels in the blood. This category also includes conditions like idiopathic hypoparathyroidism, pseudo-hypoparathyroidism, and the rare Kenny Caffey syndrome type 1.
  • Mitochondrial Myopathy: This relates to a group of disorders caused by genetic mutations that result in abnormal muscle cells. Basal ganglia calcification is a recognized feature in these diseases due to abnormal calcium levels in the body.
  • Infectious Diseases: Certain infections in the womb or during birth, like herpes, CMV, rubella, and toxoplasmosis, can cause basal ganglia and brain calcification in newborns. Cases of CNS brucellosis, toxoplasmosis, neurocysticercosis, and HIV/AIDS have also been associated with basal ganglia calcifications.
  • Congenital Disorders: These are disorders present from birth, such as Cockayne syndrome, Aicardi-Gouteres Syndrome, Tuberous Sclerosis Complex, and others. All of these can exhibit signs of basal ganglia calcifications.
  • Adult-Onset Disorders: Some disorders begin to show symptoms in adulthood, like neuroferritinopathy, spinocerebellar ataxia type 20, and polycystic lipomembranous osteodysplasia, among others. These can all show evidence of basal ganglia calcifications.
  • Dermatological Conditions: Skin conditions like lipoid proteinosis and dyskeratosis congenita can lead to basal ganglia calcifications.
  • Toxins: Exposure to toxins like excess vitamin D, lead, mercury, ionizing radiation, and methotrexate therapy can cause damage to brain cells and potentially lead to calcification.
  • Normal Aging: Sometimes, basal ganglia calcifications may also be a normal part of aging and may be found incidentally on brain scans
  • Others: Certain other conditions such as biotinidase deficiency, hereditary folate malabsorption, carbonic anhydrase deficiency, celiac disease, cerebral lupus, and tetrahydrobiopterin-deficient hyperphenylalaninemia may also cause brain calcifications.

In everyone of these cases, it’s important for the healthcare provider to perform careful evaluation and appropriate tests to arrive at an accurate diagnosis.

What to expect with Fahr Syndrome

The outlook for a patient with Fahr disease varies greatly and is difficult to predict. The severity of the disease is not linked to the age when symptoms first appear, the initial symptoms, or the amount of calcification (hardening due to the deposit of calcium) in the brain. Fahr disease tends to develop with age – by the age of 50, 95% of those who carry the disease will have symptoms.

This means that someone might carry the disease without showing any symptoms and may even have a clear brain scan when they are young. However, it is common for the hardening in the brain to become more widespread as a person gets older, which can be seen on follow-up scans.

Possible Complications When Diagnosed with Fahr Syndrome

Fahr disease is an uncommon disorder, but it can lead to difficult problems. The following list summarizes the complications that caregivers need to be aware of:

  • Depression
  • Memory loss, also known as dementia
  • Psychosis, or distorted views of reality
  • Difficulty speaking
  • Epilepsy, or recurring seizures
  • Contractures, or muscle stiffness
  • Frequent falls that can cause bone and joint injuries

Preventing Fahr Syndrome

Being diagnosed with a long-term and progressively worsening brain disorder might really scare a lot of people. Informing patients about Fahr disease is a key part in managing the disease in the long run because there isn’t a cure and it continually gets worse.

Support Groups

After the diagnosis, patients might feel a whirlwind of emotions like fear, anger, depression, or anxiety. Speaking to other people who are also dealing with brain disorders might provide some comfort – sharing stories and information can be really helpful.

Physical and Exercise Therapy

Exercise can improve a patient’s physical and mental well-being. It can boost balance, flexibility, strength, prevent stiffening and freezing of muscles, improve quality of life, and encourage socialization. Sessions to build strength and flexibility are advised. Some activities, like walking, bike riding on a stationary bike, or water aerobics can be very helpful for patients with symptoms like those seen in Parkinson’s disease.

Fall Prevention

To keep themselves safe, patients and their caregivers are advised to make their homes as safe as possible by:

  • Removing loose rugs that could cause someone to trip
  • Providing adequate lighting
  • Installing things like handles in the shower or tub
  • Reducing clutter around the house

Driving Safety

As long as they don’t have any symptoms affecting their movements, patients can still drive. However, they should be checked regularly to ensure they can still drive safely, especially if they are observed to have any motor or cognitive decline. If patients start having seizures, they are advised to stop driving. They should consider other ways to get around, like walking, using a taxi, or taking public transportation like buses and trains.

Frequently asked questions

Fahr Syndrome refers to the condition of bilateral strio-pallido-dentate calcinosis, which involves the unusual buildup of calcium deposits in certain parts of the brain, such as the basal ganglia, thalamus, hippocampus, dentate nucleus, cerebral cortex, and the cerebellar subcortical white matter. It is often genetically inherited and can also occur with a known underlying cause.

In almost half of the cases (46%), the gene mutations that cause Fahr disease are unknown.

The signs and symptoms of Fahr Syndrome can be grouped into three categories: movement disorder-like features, neuropsychiatric features, and other symptoms related to the central nervous system (CNS). 1. Movement disorder-like features might look similar to those of Parkinson's disease and include: - Slow movement - Rigidity - Tremors - Slight or soft speech - Reduced facial expression - A shuffled walk - Clumsiness - Getting tired easily - Problems with walking - Involuntary, flowing, writhing movements (choreoathetosis) - Involuntary muscle contractions or distortions (dystonia) - Slurred speech - Muscle cramps - Problems with walking or coordination (rarely) 2. Neuropsychiatric features can involve: - Depression - Stroke-like symptoms (apoplexia) - Dementia, mostly similar to those seen in Wilson's disease and Huntington's disease - Difficulty concentrating - Changes in behavior 3. Other CNS features can include: - Loss of consciousness - Muscle spasms (tetany) - Seizures - Stiffness and restrictions in the body's movements (spasticity) - Speech problems - Jerky, sporadic, involuntary, quick movements (myoclonus) - Coma - Swelling of the optic disk (papilledema) - Chronic headaches - Dizziness or vertigo - Feeling a sudden, strong urge to urinate or inability to control urination - Impotence - Severe high blood pressure It is important to note that these symptoms can vary from person to person, and not all individuals with Fahr Syndrome will experience all of these symptoms. A physical examination for this condition would involve a general physical examination, a complete neurological examination, mental health screening, memory and cognitive assessment, and functional outcome measures such as the Functional Independence Measure, Dynamic Gait Index, Timed Up and Go Test, and Fullerton Advanced Balance Scale.

Fahr Syndrome can be inherited through specific gene mutations or can occur sporadically without a known cause.

The doctor needs to rule out the following conditions when diagnosing Fahr Syndrome: - Endocrine Disorders - Mitochondrial Myopathy - Infectious Diseases - Congenital Disorders - Adult-Onset Disorders - Dermatological Conditions - Toxins - Normal Aging - Others

The types of tests needed for Fahr syndrome include: - General blood tests and a complete metabolic panel - Tests for heavy metals levels in the blood and urine - Checks for calcium and other substance levels in the blood - Analysis testing for bacteria, viruses, and parasites in the cerebrospinal fluid - Brain CT scan to identify and assess calcium deposits in the brain - MRI to provide more detailed images of the brain - PET scan to check for reduced functioning in certain parts of the brain - Molecular genetic tests to look at specific genes associated with Fahr disease, such as SLC20A2, PDGFB, PDGFRB, and XPR1. This can include single gene testing, multiple gene testing, or complete genetic mapping.

The treatment for Fahr Syndrome primarily focuses on reducing symptoms and improving quality of life. The specific treatments used can depend on the symptoms a person is experiencing. For example, antiepileptic therapy can be used to stop seizures, pain killers can be used for headaches, anticholinergic medicines can help with urinary issues, SSRIs can be used for mental health problems, and neuroleptics can help with movement disorders. Physical rehabilitation, including exercises and techniques to maintain movement range, strengthen weak muscles, improve posture and stability, and assist with walking problems, can also play a key role in management. Genetic counseling is also recommended, as Fahr Syndrome is an inherited disorder.

When treating Fahr Syndrome, there are potential side effects to be aware of. These include difficulties with walking or balance when taking medications like carbamazepine, benzipenes, and barbiturates. Anti-depressants and anxiety medications may also have increased side effects in patients with Fahr Syndrome. Additionally, the use of Lithium can increase the risk of seizures, and neuroleptics can worsen certain movement symptoms. It is important for doctors to carefully monitor the use of these medications to minimize side effects.

The prognosis for Fahr Syndrome varies greatly and is difficult to predict. The severity of the disease is not linked to the age when symptoms first appear, the initial symptoms, or the amount of calcification in the brain. Fahr Syndrome tends to develop with age, and by the age of 50, 95% of those who carry the disease will have symptoms.

A neurologist.

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