GTR Home > Conditions/Phenotypes > Fahr's syndrome

Disease characteristics

Excerpted from the GeneReview: Primary Familial Brain Calcification
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with gradually progressive neuropsychiatric and movement disorders. The main manifestations include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Migraine is frequent and seizures of various types may also occur. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.

Available tests

1 test is in the database for this condition. See lab offering the test.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: CD140B, IBGC4, IMF1, JTK12, PDGFR, PDGFR-1, PDGFR1, PDGFRB
    Summary: platelet-derived growth factor receptor, beta polypeptide

  • Also known as: GLVR-2, GLVR2, IBGC1, IBGC3, MLVAR, PIT-2, PIT2, RAM1, SLC20A2
    Summary: solute carrier family 20 (phosphate transporter), member 2

Clinical features

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  • Hyperreflexia
  • Depression
  • Mask-like facies
  • Gait disturbance
  • Dysarthria
  • Postural instability
  • Limb dysmetria
  • Dense calcifications in the cerebellar dentate nucleus
  • Mental deterioration
  • Memory impairment
  • Tremor
  • Urinary incontinence
  • Psychosis
  • Parkinsonism
  • Dystonia
  • Rigidity
  • Bradykinesia
  • Chorea
  • Dysdiadochokinesis
  • Basal ganglia calcification
  • Athetosis
  • Calcification of the small brain vessels
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