Tuesday, September 2, 2014

Fahr’s syndrome

Basal ganglia calcification is also known as Fahr’s disease or Fahr’s syndrome. It is a rare inherited or sporadic neurological disorder with a prevalence of <1/1,000,000 .
It was first described by German neurologist Karl Theodor Fahr in 1930 .
It is characterized by abnormal deposition of calcium in areas of the brain that control movements including basal ganglia, thalamus, dentate nucleus, cerebral cortex, cerebellum, subcortical white matter, and hippocampus.
Most cases present with extra pyramidal symptoms (atypical involuntary muscle contractions that influence gait, movement, and posture) initially. Additionally, they may present with cerebellar dysfunction, speech difficulty, dementia and neuropsychiatric symptoms
Source: Orphanet Journal of Rare Diseases.