A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient

  • Mariano Oliva
  • Guglielmo Capaldo
  • Alessandra D’Amico
  • Davide Colavito
  • Andrea Elefante
  • Giulia Straccia
  • Lorenzo Ugga
  • Gianfranco PuotiEmail author
Letter to the Editor

Dear Editor,

Primary familial brain calcification (PFBC) is a rare neurological disease characterized by symmetrical bilateral calcifications, which are mostly located in the basal ganglia but can also be detected in other areas of the brain [1]. The estimated prevalence of PFBC is < 1/1.000.000 [2], with a male:female ratio of about 2:1 [3]. Although symmetrical brain calcifications are frequently observed in routine CT scans [4], the disease usually begins in the fourth or fifth decade of life with a variable association of psychiatric symptoms, cognitive decline, and extrapyramidal syndrome. These cardinal aspects can also be accompanied by a broad constellation of other clinical features and, depending on the prevalent location of the calcium deposits, they include headache [5], seizures, ataxia and dysarthria [3], and transient ischemic attack or stroke [6]. On the other hand, a significant proportion of patients are asymptomatic at the time of diagnosis [4]. To date, four genes (



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Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  1. 1.Dipartimento di Scienze Mediche Chirurgiche Neurologiche Metaboliche e dell’InvecchiamentoUniversità degli studi della Campania Luigi VanvitelliNaplesItaly
  2. 2.Dipartimento di Scienze Biomediche AvanzateUniversità degli Studi di Napoli Federico IINaplesItaly
  3. 3.Research & Innovation srl (R&I Genetics)PadovaItaly

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