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GENATLAS PHENOTYPE

last update : 09-01-2018

Symbol	NBIA3
Location	19q13.33
Name	neurodegeneration with brain iron accumulation 3
Other name(s)	basal ganglia disease, adult onset neuroferritinopathy
Corresponding gene	FTL
Other symbol(s)	BGD
Main clinical features	is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia; age at onset, cognitive involvement, and mode of inheritance is variable progressive potentially treatable adult-onset movement disorder typically presented with involuntary movements at 40 to 55 years of age; symptoms of extrapyramidal dysfunction included choreoathetosis, dystonia, spasticity, and rigidity, sometimes showing acute progression but not associated with significant cognitive decline or cerebellar involvement MRI scan showed cavitation of the basal ganglia confirmed by brain pathology
Genetic determination	autosomal dominant
Function/system disorder	neurology
	metabolism/metal
Type	disease

Remark(s)

. pathogenic FTL mutant p.Phe167SerfsX26 is a functional ferritin with an altered conformation of the C terminus (PMID: 20159981))