A 20 year old woman with pseudohypoparathyroidism, Parkinsonism and no basal ganglia calcifications shown by computed tomography is reported. She has typical features of pseudohypoparathyroidism and biochemical evidence of end-organ resistance to parathyroid hormone. She is mentally retarded and has tremor, rigidity, bradykinesia, and stooped posture. The cause of Parkinsonism in pseudohypopara...

Fahr disease is a rare neurological condition characterized by abnormal basal ganglia calcification. Some patients with have been reported to present the emergency department (ED) stroke-like symptoms. Here, we case of transient focal signs. A 63-year-old man came ED complaints slurred speech and movement his left arm. His symptoms lasted only 5 minutes before he recovered. He had no deficits w...

BACKGROUND Familial Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC20A2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including th...

Platelet-derived growth factors (PDGF) bind to two related receptor tyrosine kinases, which are encoded by the PDGFRA and PDGFRB genes. Recently, heterozygous PDGFRB mutations have been described in patients diagnosed with idiopathic basal ganglia calcification (IBGC or Fahr disease), a rare inherited neurological disorder. The goal of the present study was to determine whether these mutations ...

We present the case of a 76-year-old man who was admitted to the emergency room of Dario Fernandez General Hospital, ISSSTE (Mexico City, Mexico) with slurred speech of a few hours of onset. His relevant background included hypertension since he was 68 years-of-age without current treatment, and a posterior cervical laminectomy because of medullar injury when he was 72 years-of-age. During the ...