Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci. 2005;26:367–9. [PubMed: 16388376] Morita M, Tsuge I, Matsuoka H, Ito Y, Itosu T, Yamamoto M, Morishima T. [ncbi.nlm.nih.gov]

• Small Head

  Enlarged liver 0002240 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small [rarediseases.info.nih.gov]

• Mask-like Facies

  […] speech 0001260 Dysdiadochokinesis Difficulty performing quick and alternating movements 0002075 Dystonia 0001332 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hyperreflexia Increased reflexes 0001347 Limb dysmetria 0002406 Mask-like [rarediseases.info.nih.gov]

• Dystonia

  Dystonia and calcification of the basal ganglia. Neurology. 1985;35:533–7. [ncbi.nlm.nih.gov]

  Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). [rarediseases.info.nih.gov]

• Cerebral Calcification

  Showing of 37 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormality of neuronal migration 0002269 Cerebral calcification Abnormal deposits of calcium in the brain 0002514 Hepatomegaly Enlarged liver 0002240 Intrauterine [rarediseases.info.nih.gov]

  Familial idiopathic cerebral calcifications. J Neurol Neurosurg Psychiatry. 1977;40:280–5. [PMC free article: PMC492663] [PubMed: 886353] Bonazza S, La Morgia C, Martinelli P, Capellari S. [ncbi.nlm.nih.gov]

• Stroke

  National Institute of Neurological Disorders and Stroke (NINDS). February 13, 2007; http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm. Accessed 9/4/2015. [rarediseases.info.nih.gov]

• Urinary Incontinence

  Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). [rarediseases.info.nih.gov]

Treatment Treatment There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. [rarediseases.info.nih.gov]

Surveillance typically includes yearly neurologic and neuropsychiatric assessments.[1] Last updated: 9/4/2015 Prognosis Prognosis The prognosis for any individual with PFBC is variable and hard to predict. [rarediseases.info.nih.gov]

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature. 2015;517:89–93. [PMC free article: PMC4303590] [PubMed: 25307056] [ncbi.nlm.nih.gov]