DEFINITION
Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex.
NINDS Fahr's Syndrome Information Page
The Diseases Database
Fahr’s syndrome: literature review of current evidence, 2013
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Fahr disease
EPIDEMIOLOGY
Fahr’s disease commonly affects young to middle aged adults.
SYMPTOMS
A wide variety of symptoms, ranging from neurological symptoms of extrapyramidal system to neuropsychiatric abnormalities of memory and concentration to movement disorders including Parkinsonism, chorea and tremors amongst others.
DIAGNOSIS
histopathology
radiology
NMR
- Calcified deposits are made up of calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter and Dentate Nucleus.
laboratory tests
PATHOGENESIS
In the case of intracellular calcification we can assume that calcium intracellular concentration is increased. The possible mechanisms, either genetic or acquired, can be summarized in:
- higher calcium influx
- reduced Ca++ ATPase activity
Endocrine disorders, particularly parathyroid disturbances are most commonly associated with Fahr’s syndrome. These abnormalities include idiopathic hypoparathyroidism, secondary hypoparathyroidism, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism and hyperparathyroidism.
PATIENT RISK FACTORS
Vascular
Genetic
Acquired
Hormonal
Genetic
Acquired
TISSUE SPECIFIC RISK FACTORS
anatomical (due its structure)
vascular (due to the local circulation)
physiopathological (due to tissue function and activity)
COMPLICATIONS
THERAPY
