Recent findings Mutations in VPS35 were identified as a novel cause of autosomal dominant Parkinson disease using exome sequencing. Next generation sequencing (NGS) was also used to identify PRRT2 mutations as a cause of paroxysmal kinesigenic dyskinesia (DYT10). Using a different technique, that is linkage analysis, mutations in EIF4G1 were implicated as a cause of Parkinson disease and mutati...

BACKGROUND Fahr's disease (FD), or primitive idiopathic calcification of the basal ganglia, is a rare neurodegenerative syndrome characterized by the presence of idiopathic bilateral and symmetrical cerebral calcifications. CASE REPORT We describe the case of 43-year-old woman presenting with psychiatric symptoms, disorganized behavior, and migraine. Magnetic resonance imaging (MRI) examinati...

Physiological intracranial calcification occurs in about 0.3-1.5% of cases. It is asymptomatic and detected incidentally by neuroimaging. Pathological basal ganglia calcification is due to various causes, such as: metabolic disorders, infectious and genetic diseases. Hypoparathyroidism and pseudohypoparathyroidism are the most common causes of pathological basal ganglia calcification. Besides t...

BACKGROUND Fahr's disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. No case of Fahr's disease with associated cardiac conduction disease has been described in the literature to date. The objective of this case report was to describe a young female with various c...

Fahr's disease is a rare neuropsychiatric disease characterized by bilateral intracranial calcification, primarily in the basal ganglia. The more general term, Fahr's syndrome, is used for primary and secondary basal ganglia calcification, regardless of the etiology, but the term Fahr's disease is used to describe primary, idiopathic cases. Fahr's disease may present with neurological symptoms,...

Calcification of basal ganglia is known as FAHR’s syndrome or disease. It’s a rare phenomenon which generally affects the young to middle aged adults. A 39-year-old female was sent radiology department Sree Balaji Medical College, Chennai for computed tomography (CT) she had fall and injured her forehead. An axial plain CT scan without contrast advised performed. The study revealed mild frontal...

We present a 77-year-old woman with levodopa-nonresponsive parkinsonism, dementia, and supranuclear gaze palsy on vertical and horizontal gaze. Laboratory findings were consistent with idiopathic hypoparathyroidism, and brain computed tomography showed extensive bilateral calcifications of the basal ganglia, centrum semiovale, dentate nuclei, and cerebellar white matter. These results illustrat...