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Idiopathic Basal Ganglia Calcification Type 1
Primary Familial Brain Calcification Type 1

Presentation

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]

Entire Body System

  • Inflammation

    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]

Psychiatrical

  • Suggestibility

    Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life. BMC Biochemistry. 2011;12:21. [ncbi.nlm.nih.gov]

    If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered.[1]Sequencing of SLC20A2 should be pursued first. [rarediseases.info.nih.gov]

  • Delusion

    A young woman with visual hallucinations, delusions of persecution and a history of performing arson with possible three-generation Fahr disease. Acta Psychiatr Scand. 2010;121:75–7. [ncbi.nlm.nih.gov]

  • Visual Hallucination

    A young woman with visual hallucinations, delusions of persecution and a history of performing arson with possible three-generation Fahr disease. Acta Psychiatr Scand. 2010;121:75–7. [ncbi.nlm.nih.gov]

Neurologic

  • 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]

Workup

Other Pathologies

  • Neurofibrillary Tangle

    Diffuse neurofibrillary tangles with calcification (Kosaka-Shibayama disease) in Japan. Psychiatry Clin Neurosci. 2016;70:131–40. [ncbi.nlm.nih.gov]

Treatment

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]

Prognosis

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]

Prevention

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]

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2.1
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