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Medical Information Overview

Neurodegeneration with Brain Iron Accumulation (NBIA), is a group of rare, inherited neurological disorders, characterized by the progressive degeneration of the nervous system.

To date, nine genes are associated with types of NBIA. The genes and the form of NBIA identified thus far are:

PANK2

Pantothenate Kinase-Associated Neurodegeneration

PKAN

PLA2G6

PLA2G6-Associated Neurodegeneration

PLAN

C19orf12

Mitochondrial-membrane Protein-Associated Neurodegeneration

MPAN

WDR45

Beta-propeller Protein-Associated Neurodegeneration

BPAN

FA2H

Fatty-Acid Dyroxylase-associated Neurodegeneration

FAHN

CP

Aceruloplasminemia

 

ATP13A2

Kufor-Rakeb

 

FTL

Neuroferritinopathy

 

DCAF-17

Woodhouse-Sakati Syndrome

 

 

The common feature among all individuals with NBIA is iron accumulation in the brain along with a progressive movement disorder. This is especially seen in regions of the basal ganglia called the globus pallidus and the substantia nigra. The basal ganglia is a collection of structures deep within the base of the brain that assist in regulating movements. The exact relationship between iron accumulation and the symptoms of NBIA is not fully understood.

The frequency of NBIA in the general population is estimated between 1-3/1,000,000 individuals.

Affected individuals can plateau for long periods of time and then undergo intervals of rapid deterioration. Symptoms may vary greatly from case to case, partly because there are different genes causing NBIA. Also, different mutations within a gene could lead to a more or less severe presentation. The factors that influence disease severity and rate of progression are unknown.

The movement disorders result in clumsiness, difficulty controlling the body and speech problems. Dystonia, spasticity and visual disorders are common clinical signs.

Many individuals eventually lose the ability to walk, talk or chew food and become totally dependent on others for their care.