Publications by authors named "Robert Erro"
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
Parkinsonism Relat Disord
April 2017
Article Synopsis
- Multiple genes linked to familial primary brain calcification (PFBC) include SCL20A2, PDGFB, PDGFRB, and XPR1, all associated with Fahr's disease.
- A systematic review analyzed 137 cases of PFBC and 20 cases of pseudohypoparathyroidism through recent literature, highlighting clinical and genetic correlations.
- Findings revealed SLC20A2 as the most common gene involved, with notable clinical symptoms linked to specific genetic mutations, leading to a proposed diagnostic algorithm for affected patients.