Primary familial brain calcification (PFBC): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Primary familial brain calcification (PFBC): clinical features. Movement disorders, Parkinsonism, Dystonia, Chorea. Fully referenced neurology checklist.

Movement disorders

  • Movement disorders
  • Parkinsonism
  • Dystonia
  • Chorea
  • Ataxia

Cognitive impairment

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Psychiatric disorders

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Other neurological features

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Associated features

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Differential diagnosis

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Synonyms

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References

  1. Kostić VS, Petrović IN. Brain calcification and movement disorders. Curr Neurol Neurosci Rep 2017; 17:2.
  2. Calabrò RS, Spadaro L, Marra A, Bramanti P. Fahr's disease presenting with dementia at onset: a case report and literature review. Behav Neurol 2014; 2014:750975.
  3. Modrego PJ, Mojonero J, Serrano M, Fayed N. Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci 2005; 26:367-369.
  4. Coppola A, Hernandez-Hernandez L, Balestrini S, et al. Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation. J Neurol 2020; 267:2221-2227.
  5. Moura DA, Oliveira JR. XPR1: a gene linked to primary familial brain calcification might help explain a spectrum of neuropsychiatric disorders. J Mol Neurosci 2015; 57:519-521.

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