Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased muscle stiffness (rigidity) and restricted movements (spastic paralysis). Additional abnormalities may include relatively slow, involuntary, continual writhing movements (athetosis) or chorea, a related condition characterized by irregular, rapid, jerky movements.
Familial idiopathic basal ganglia calcification is characterized by abnormal calcium deposits in the basal ganglia, dentate nucleus, thalami and cerebral white matter of the brain and may be found as early as the first decade of life. Neuropsychiatric symptoms usually begin in the third to fifth decade. Early symptoms may include clumsiness, fatigue, slow or slurred speech and difficulty swallowing (dysphagia). Some individuals with basal ganglia calcification remain free of symptoms for several decades. Progressive deterioration of mental abilities (dementia) and loss of previous motor development are accompanied by spastic paralysis and in some cases, twisting movements of the hands and feet (athetosis). Features of Parkinson disease found in this disorder may include tremors and rigidity, a masklike facial expression, shuffling walk, and a pill rolling motion of the fingers. Muscle cramping (dystonia), uncontrollable spasmodic irregular movements (chorea), and seizures can also occur. Occasional symptoms include sensory changes, headaches and urinary incontinence.
Familial idiopathic basal ganglia calcification is inherited as an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. It is not known how many cases of FIBGC are due to a new gene mutation. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.
Wang et al (2012) reported 7 families from China, Spain and Brazil, with different mutations in the SLC20A2 gene on chromosome 8, encoding for a phosphate inorganic transporter (PIT-2). Twin studies suggest that there are inherited patterns of basal ganglia calcification that may be linked to specific genes. Other genes on chromosomes 7, 9 and 14 are also being studied to determine if they are associated with FIBGC.
The prevalence of FIBGC is unknown. Approximately 30 families have been described with this syndrome.
Neuroimaging techniques such as computed tomography (CT) of the brain (the most sensitive technique), magnetic resonance imaging (MRI) and skull X-rays are used to diagnose calcification of the basal ganglia. This finding in combination with a progressive movement disorder, neuropsychiatric problems beginning in the 40’s or 50’s, a lack of biochemical abnormalities or other known causes (infection, toxic exposure, trauma) make the diagnosis very likely.
No specific treatment is known for FIBGC. Medications can be used to treat symptoms associated with this condition, such as movement disorders, seizures, anxiety, depression, psychosis and urinary incontinence.
Genetic counseling is recommended for affected individuals and their families, especially for those with mutations at the SLC20A2 gene.
Speech and gait were improved in one patient treated with disodium etidronate, but other neurologic symptoms and calcification were unchanged.
Levodopa therapy was found to be effective in treating parkinsonian features in one individual who had FIBGC and Parkinson disease.
The anticonvulsant oxcarbazepine was effective in treating a Turkish patient with basal ganglia calcification and dyskinesia.
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Contact for additional information about familial idiopathic basal ganglia calcification:
João Ricardo Mendes de Oliveira, MD, PhD
Federal University of Pernambuco
Av. Prof. Moraes Rego, 1235
Cidade Universitária, Recife
PE, 50670-901, Brazil
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