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The hidden truth about familial brain calcification: How does this rare disease affect neurological function?
Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, is a rare hereditary neurological disease characterized by It is abnormal calcium deposits in certain areas of the brain. These deposits are concentrated in the basal ganglia, which are responsible for motor control, and can be detected using computed tomography (CT) scans.
Symptoms and signs
Symptoms of PFBC include deterioration of motor function and speech, seizures and other involuntary movements. People may experience headaches, dementia, and impaired vision, and their symptoms often mimic features of Parkinson disease. The disease usually manifests itself between the ages of thirty and fifty, but it may also appear in childhood or later in life.
Symptoms of the condition may range from clumsiness, fatigue, an unsteady gait, and slow or slurred speech to difficulty swallowing, involuntary movements, or muscle spasms.
Causes
The condition can be inherited in an autosomal dominant or recessive manner, and several genes have been associated with the disorder. Research suggests that there may be a gene locus on chromosome 14, but no specific gene has been identified yet. In addition, other PFBC-associated gene variants were found on chromosomes 8 and 2, suggesting that the disease may have some genetic heterogeneity.
For PFBC, the disease-related genes include SLC20A2 on chromosome 8, PDGFB on chromosome 22, and PDGFRB on chromosome 5, which play an important role in angiogenesis and may be related to brain Pathological changes in the blood barrier.
Pathology
The area of the brain most commonly affected by PFBC is the nucleus translucentis, which is visible on medical imaging tests, especially the pale blue tissue of the internal capsule. As we age, the amount of calcium deposits increases.
Pathological examination may reveal calcium deposits within the walls of small to medium-sized arteries, but significant loss of nerve cells is relatively rare.
Diagnosis
Diagnosing PFBC usually requires a series of blood tests to rule out other conditions and a CT scan to confirm the presence of brain calcifications. Additionally, doctors review the person's family history to ensure that the disorder is inherited through an autosomal dominant pattern.
Differential diagnosis
Basal ganglia calcification may also be caused by other known genetic disorders, so these disorders must be ruled out before a diagnosis is made. These include several other rare diseases, and finding the underlying cause of the disease is an important step in differential diagnosis.
Treatment management
There is currently no cure for PFBC and treatment focuses primarily on symptom control. If parkinsonian features are present, they generally do not respond well to levodopa therapy. Some case reports suggest that the use of antipsychotics such as flupentixol or lithium may improve psychotic symptoms.
Prognosis
The prognosis of PFBC varies from person to person and is difficult to predict. There is no reliable correlation between age, degree of calcium deposition, and neurologic deficits. As the disease progresses, most patients will eventually suffer from disability and death.
The disease was first noted by German pathologist Karl Theodor Fall in 1930. To date, a small number of cases of familial brain calcification have been documented, leading some to wonder: Are there deeper genetic mysteries behind these rare diseases?
