What is neuroferritinopathy?

What is neuroferritinopathy?

What is neuroferritinopathy?

Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40.

How is neuroferritinopathy diagnosed?

Diagnosis of neuroferritinopathy can be confirmed through genetic testing of the FTL gene to find a gene change. Genetic testing is done through sequence analysis, which is able to find the gene change in ~80% of cases.

Is neuroferritinopathy hereditary?

Neuroferritinopathy is inherited in an autosomal dominant manner with 100% penetrance. Most individuals diagnosed with neuroferritinopathy have an affected parent; the proportion of cases caused by de novo pathogenic variants is unknown.

What is NBIA?

Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.

What causes Neuroferritinopathy?

Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia.

Can too much iron cause tremors?

Moreover, patients with the mutation causing abnormal ferritin metabolism and iron deposition in the globus pallidus presented with symptoms of extrapyramidal dysfunction including tremor (Ponka, 2002). In conclusion, overloaded iron might be involved in the presence of tremor of PD.

Can low ferritin cause neurological symptoms?

A better general screen is ferritin levels (<15 ng/ml is the diagnostic level for iron deficiency, but levels less than 40 can present with restless legs and other neurologic symptoms).

How is NBIA diagnosed?

Exams and Tests Tests such as an MRI scan can help rule out other movement disorders and diseases. The MRI usually shows iron deposits in the basal ganglia, and are called the “eye of the tiger” sign because of the way the deposits look in the scan. This sign suggests a diagnosis of PKAN.

What causes NBIA disease?

PKAN, or Pantothenic Kinase-Associated Neurodegeneration, is caused by mutations in the PANK2 gene. This is the most common form of NBIA, making up approximately 30% of the NBIA population. This gene provides the instruction for making an enzyme called pantothenate kinase.