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Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Dongcheng District, Beijing, China
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Dongcheng District, Beijing, China
Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Dongcheng District, Beijing, China
Requests for reprints should be addressed to Yi Guo, Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuaifuyuan, Dongcheng District, Beijing, 100730, China.
Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Dongcheng District, Beijing, China
A 57-year-old man presented to the Neurology Clinic with a 6-year history of progressive
bilateral static tremor, bradykinesia, and gait initiation difficulty. His non-motor
manifestations included constipation and pollakiuria. Initial levodopa test revealed
excellent responsiveness, with Unified Parkinson's Disease Rating Scale scores improving
from 57 to 14 points (75%). No signs of atrophy in the cerebrum, cerebellum, or brain
stem were found on the magnetic resonance imaging. Parkinson's disease was clinically
diagnosed. Computerized tomography of the head showed bilateral, symmetric, dense
calcifications in the basal ganglia and cerebellum (FigureA). His serum calcium level was normal, and he had normal parathyroid functions. Whole
exome sequencing was then performed, and a heterozygous variant in the SLC20A2 gene, c.1784C>T (p.Thr595Met), was suspected as the disease-causing gene mutation.
Therefore, the combination of bilateral brain calcifications, normal phosphate-calcium
metabolic function, and SLC20A2 gene mutation contributed to the final diagnosis of idiopathic basal ganglia calcifications
(iBGC), or Fahr's disease.
Figure(A) Bilateral, symmetric, dense calcifications located in the basal ganglia and cerebellum
(not shown) in a patient presenting with Parkinson disease, and (B) successful deep brain stimulation surgery with electrodes targeting the bilateral
subthalamic nucleus.
