Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.

Background: Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease, is a rare disorder characterized by widespread cerebral calcifications, an autosomal dominant pattern of inheritance and clinical and genetic heterogeneity. The recently identified IBGC gene, SLC20A2, encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the regional accumulation of inorganic phosphate in the brain, causing calcium phosphate deposition.

Objective: To describe the clinical, neuroimaging and genetic findings in an Italian family with IBGC.

Novel neurofibromatosis type 2 mutation presenting with status epilepticus.

Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervous system. Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2.

Emerging candidate biomarkers for Parkinson's disease: a review.

Parkinson's disease is a chronic neurodegenerative disorder leading to progressive motor impairment affecting more than 1% of the over-65 population. In spite of considerable progress in identifying the genetic and biochemical basis of PD, to date the diagnosis remains clinical and disease-modifying therapies continue to be elusive. A cornerstone in recent PD research is the investigation of biological markers that could help in identifying at-risk population or to track disease progression and response to therapies.