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The genetic code of brain calcification: Which genes are associated with PFBC?
Primary familial cerebral calcification (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) or Fahr's disease, is a rare genetic neurological disorder characterized by certain parts of the brain. Abnormal deposits of calcium in areas that normally control motor function. Using CT scans, calcifications in the basal ganglia and cerebral cortex can be seen.
Symptoms and signs
Symptoms of the disease include deterioration of motor and speech functions, seizures, and other involuntary movements. Patients may also experience symptoms such as headaches, dementia, and visual impairment. These symptoms have many similarities to Parkinson's disease, which usually begins between the ages of thirty and fifty, but can also appear in childhood or later in life. Patients may initially feel clumsy, tired, have an unsteady gait, slow or slurred speech, difficulty swallowing, and involuntary muscle spasms. Seizures of various kinds are common in this disease, and neuropsychiatric symptoms may be the initial or prominent manifestation.
Cause
The disease can be inherited through autosomal dominant or recessive inheritance. Several genes have been associated with PFBC, such as the SLC20A2 gene located on chromosome 8. This gene encodes a sodium-dependent phosphate transporter and is implicated in the biochemical mechanism of this disease.
These genes have important functions and roles in the angiogenesis process, suggesting that changes in the blood-brain barrier may be involved in the pathogenesis of the disease.
In addition, the PDGFB gene located on chromosome 22 and the PDGFRB gene located on chromosome 5 are also associated with this disease. In addition to these, the XPR1 gene located on chromosome 1 and the MYORG gene on chromosome 9 have been reported to be associated with PFBC.
Pathology
The most commonly affected part of the brain is the lentiform nucleus, especially the medial pallidum. Calcification usually progresses with age, and older patients often have more extensive calcifications and an increase in calcifications can be documented on follow-up. Calcification conditions can affect the walls of small and medium-sized arteries, and these calcium deposits can eventually lead to the closure of the vessel lumen.
Diagnosis
Diagnosis of PFBC requires fulfillment of several criteria, including: bilateral presence of basal ganglia calcifications, progressive neurologic deficit, no alternative metabolic, infectious, toxic or traumatic cause, and familial inheritance with autosomal dominant inheritance history. CT scan is the preferred method to determine the location and extent of calcification.
Differential diagnosis
Basal ganglia calcification can be the result of a number of known genetic conditions, so these conditions need to be ruled out before a diagnosis can be made.
Management and prognosis
There is currently no cure for PFBC, and treatment mainly focuses on symptom control. When parkinsonian features are present, the response to levodopa is often poor, and some patients may respond to haloperidol or lithium carbonate. Patient prognosis is highly variable and cannot be accurately predicted.
Historical background
The disease was first documented by German pathologist Carl Theodor Farr in 1930. There are currently less than 20 known family cases.
PFBC in literature
Farr's syndrome appears as part of the story in Norwegian writer Jo Nesbo's suspense novel "The Snowman".
Through the exploration of these genes, we may be able to gain a deeper understanding of the potential pathogenesis of PFBC. So how many unknown factors are hidden in this complex genetic network?
