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Neurodegeneration with Brain Iron Accumulation Disorders Overview.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Feb 28 [updated 2014 Apr 24].

Excerpt

CLINICAL CHARACTERISTICS:

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes.

DIAGNOSIS/TESTING:

The diagnosis is usually first suspected when brain MRI findings suggest abnormal brain iron accumulation. Clinical findings and molecular genetic testing establish the diagnosis of specific types. The ten genes known to be associated with types of NBIA are PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17.

GENETIC COUNSELING:

Eight of the ten genetically defined types of NBIA are inherited in an autosomal recessive manner. Exceptions are: beta-propeller protein-associated neurodegeneration (BPAN), caused by a de novo pathogenic variant in WDR45, which is inherited in an X-linked dominant manner with suspected male lethality; and neuroferritinopathy, caused by a pathogenic variant in FTL, which is inherited in an autosomal dominant manner. If the family-specific pathogenic variant(s) are known, carrier testing for family members at risk for the autosomal recessive types and the X-linked type is possible, and prenatal testing for most types is possible.

MANAGEMENT:

Treatment of manifestations: Intrathecal or oral baclofen, oral trihexyphenidyl, intramuscular botulinum toxin, and deep brain stimulation to treat dystonia; services for the blind, educational programs, assistive communication devices; adaptive aids (walkers, wheelchairs) for gait abnormalities. Prevention of secondary complications: Adequate nutrition through swallowing evaluation, dietary assessment, gastrostomy tube feeding as needed. Surveillance: Evaluation for treatable causes of pain during episodes of extreme dystonia; monitoring of height and weight; routine ophthalmologic assessment; regular assessments of ambulation and speech abilities.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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