Striopallidodentate calcinosis

Striopallidodentate calcinosis (SPDC), also known as Fahr's Syndrome, is a rare, genetically dominant, neurodegenerative disorder characterized by abnormal calcium deposits in the brain. These deposits, primarily located in the basal ganglia and cerebral cortex, are associated with a variety of neurological and psychiatric symptoms.

Etiology

The exact cause of striopallidodentate calcinosis is unknown. However, it is believed to be associated with several genetic mutations. The most common mutations are found in the SLC20A2, PDGFRB, PDGFB, and XPR1 genes. These genes are involved in the regulation of calcium and phosphate in the body.

Symptoms

The symptoms of striopallidodentate calcinosis can vary widely among individuals. Common symptoms include dystonia, parkinsonism, cognitive impairment, and psychiatric disorders. Other symptoms may include seizures, headache, vertigo, and speech difficulties.

Diagnosis

Diagnosis of striopallidodentate calcinosis is typically based on the presence of characteristic neuroimaging findings, such as bilateral and symmetric calcifications in the basal ganglia and/or dentate nucleus. Genetic testing can also be used to confirm the diagnosis.

Treatment

There is currently no cure for striopallidodentate calcinosis. Treatment is symptomatic and may include medications to manage movement disorders, psychiatric symptoms, and seizures. In some cases, physical therapy and occupational therapy may also be beneficial.

Prognosis

The prognosis for individuals with striopallidodentate calcinosis varies. Some individuals may have a relatively normal lifespan with mild symptoms, while others may experience severe neurological impairment and a reduced lifespan.

See also

• Neurodegeneration
• Basal ganglia calcification
• Genetic disorders