Table 2.

Neurodegeneration with Brain Iron Accumulation: Genetic Types

Gene 1NBIA Genetic TypeMOI% of all NBIA
ATP13A2 Kufor-Rakeb syndrome (OMIM 606693)ARRare 2
C19orf12 Mitochondrial membrane protein-associated neurodegeneration (MPAN)AR, AD 35%-10% 4
COASY COASY protein-associated neurodegeneration 5 (CoPAN; OMIM 618266)ARRare
CP Aceruloplasminemia ARRare
DCAF17 Woodhouse-Sakati syndrome ARRare 6
FA2H Fatty acid hydroxylase-associated neurodegeneration (FAHN)ARRare 7
FTL Neuroferritinopathy ADRare
PANK2 Pantothenate kinase-associated neurodegeneration (PKAN)AR30%-35% 4
PLA2G6 PLA2G6-associated neurodegeneration (PLAN)AR10%-15% 4
WDR45 Beta-propeller protein-associated neurodegeneration (BPAN)XL40%-45% 4
1.

Genes are listed alphabetically.

2.

Pathogenic variants in ATP13A2 were identified in the family originally reported with Kufor-Rakeb syndrome and a handful of other cases worldwide [Behrens et al 2010, Brüggemann et al 2010, Schneider et al 2010, Chien et al 2011, Eiberg et al 2012].

3.

Autosomal dominant inheritance and de novo dominant pathogenic sequence variants have been reported in some families [Gregory et al 2019].

4.

Based on prevalence in the International Registry for NBIA and Related Disorders from the Hayflick laboratory

5.
6.

Described in several Saudi Arabian families [Woodhouse & Sakati 1983, Al-Semari & Bohlega 2007]

7.

Documented in seven unrelated families to date [Dick et al 2008, Edvardson et al 2008, Dick et al 2010, Kruer et al 2010]

From: Neurodegeneration with Brain Iron Accumulation Disorders Overview

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