Fahr Disease is a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposition and associated cell loss in the areas of brain that control movement, including basal ganglia and cerebral cortex. The condition was first described by Fahr in 1930.
- Location
Fahr Disease or familial idiopathic basal ganglia calcification is characterized by bilateral basal ganglia calcification .The most common site of calcification is the globus pallidus . However additional areas of calcification are putamen, caudate nucleus, internal capsule, dentate nucleus, thalamus, cerebellum and cerebral white matter. The calcium deposits occur in the extracellular and extravascular space often surrounding the capillaries. It is not clear whether the calcification in Fahr Disease is a metastatic deposition, secondary to local disruption of blood brain barrier, or is due to disorder of neuronal calcium metabolism.
- Age
Typically the age at onset of clinical symptoms is 30 to 60 years.
- Clinical features
The clinical evolution is that of a degenerative disorder, rather than a developmental disorder. The core clinical features are dysarthria, extrapyramidal signs, ataxia, progressive deterioration of mentality, loss of motor accomplishments, symmetrical spastic paralysis, athetosis, eye impairment due to optic atrophy.
- Prognosis
There is neither a cure for Fahr Disease, nor a standard course of treatment. The prognosis is variable and hard to predict.