OBJECTIVE To determine the neuroradiological abnormalities associated with subjects carrying the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) tRNA(Leu)(UUR) A3243G point mutation METHODS Mitochondrial genetic analysis was performed on 24 subjects from six kindreds with the MELAS tRNA(Leu)(UUR) A3243G point mutation. Cerebral CT and MRI were performe...

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...

PURPOSE Idiopathic basal ganglia calcification (IBGC) is a rare, intractable disease with unknown etiology. IBGC3 is a familial genetic disease defined by genetic mutations in the major causative gene (SLC20A2). People with IBGC3 experience distress from the uncommon nature of their illness and uncertainty about treatment and prognoses. The present study aimed to describe the lives and illness ...

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...

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 ...