Fahr Syndrome

Excerpt

Fahr disease is named after Karl Theodor Fahr, a German neurologist who first reported the disorder in 1930. It is a rare neurological condition characterized by abnormal idiopathic calcification of basal ganglia and commonly has an autosomal dominant inheritance. Abnormal calcified deposits (composed of calcium carbonate and phosphate) are not just limited to basal ganglia but also occur in some other locations, such as thalamus, hippocampus, dentate nucleus, cerebral cortex, and cerebellar subcortical white matter.

Usually, in the literature, the term Fahr disease and syndrome are used interchangeably, but it has been argued that:

1. For primary basal ganglia calcifications, with no known etiology, the term Fahr disease should be used.

2. For secondary causes of basal ganglia calcifications, with known underlying causes, the term Fahr syndrome should be used.

Fahr disease is also termed bilateral strio-pallido-dentate calcinosis or primary familial brain calcification (PFBC) or calcinosis nucleorum.