Fahr's disease refers to a rare syndrome characterised by symmetrical and bilateral intracranial calcification. The basal ganglia are the most common site of involvement and most cases present with extra-pyramidal symptoms. We describe two men with Fahr's diseases who presented with prominent frontal lobe symptoms. The first man presented with frequent uncontrollable bursts of laughter and cryi...

BACKGROUND Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke. CASE PRESENTATION A 56 years old man was transferred to our hospital bec...

Two related infants with microcephaly, spastic quadriplegia, and profound retardation are reported. Both showed extensive bilateral symmetrical calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

BACKGROUND Fahr's disease is rare a neurodegenerative idiopathic condition characterized by symmetric and bilateral calcifications of basal ganglia, usually associated with progressive neuropsychiatric dysfunctions and movement disorders. The term "Fahr's syndrome" is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical pi...

Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in of the brain. The affected individuals exhibit movement disorders, and progressive deterioration cognitive psychiatric ability. genetic cause disease mutation one several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably sporadically occurs. He...

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...