Fahr's Disease

nClinical:

nParkinson’s like movement disorder, headaches, dementia, vision, seizures, other neuropsychiatric symptoms beginning age 30-50 and progressive.

nPathology:

nRare (less than 20 families), autosomal dominant, no specific gene identified but likely related to abnormal phosphate transporter and/or PDGF and BBB, progressive with age

nConcentric calcium deposits in walls of small and medium size arterioles and might become occlusive

nExtensive gliosis without neuronal loss

nImaging:

nCT- extensive symmetric calcifications basal ganglia, dentate nuclei, caudate, thalami, subcortical, cortex

nMR- complex signal of Ca++ in variable hydration state- hyper/iso/hypo

nMay be indistinguishable from hyperparathyroidism or other causes.

nDiagnostic criteria:

nBilateral basal ganglia calcification

nProgressive neurologic dysfunction

nNo other cause identified

nFamily history that suggest autosomal dominance

nRx/prognosis

nNo cure, symptomatic treatment, ?bisphosphonate, L-dopa ineffective, variable prognosis but typically long term disability

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