Imaging and neuropsychological profile of four patients with Fahr’s disease.

Abstract

Idiopathic basal ganglia calcification, also known as Fahr’s disease, is a rare neurological disorder characterized by abnormal calcium deposition in basal ganglia and cerebellum, usually associated with neuropsychiatric symptoms and movement disorders. The same diagnostic label probably encompasses different diseases with variable characteristics. Here we report 4 patients who meet criteria for Fahr’s disease, presenting different radiological, neuropsychological, psychiatric, and systemic features, to assess the role of cerebral calcifications in the clinical picture. All patients underwent complete neuropsychological evaluations at our unit. Cerebral computed tomography scans were obtained for all patients, and magnetic resonance images were also available for patients 1, 2, and 4. Patients presented heterogeneous radiological and neuropsychological features; overall clinical pictures varied from completely asymptomatic to severe cognitive impairment. In our patients, the site and extent of brain calcification appear only partially indicative of clinical severity because the worsening of brain calcifications does not lead to a corresponding clinical worsening.

A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant

“…This disease results from biallelic loss-of-function variants in SLC30A10 and basal ganglia calcifications may mimic those seen in individuals with PFBC (3). Several case reports and reviews have explored the neuropsychological profiles of individuals with PFBC (4,5,7,(33)(34)(35). Psychiatric manifestations including mood disorders and psychotic symptoms are frequently present.…”