Table 2. [Types of NBIA: Molecular Genetics]. - GeneReviews®

Gene	Disease Name	MOI	Progression
ATP13A2	Kufor-Rakeb syndrome ¹	AR	Later-onset, slowly progressive NBIA w/onset after 1st decade
C19orf12	MPAN	AR	Early-onset (during 1st decade) or later-onset (after 1st decade), slowly progressive NBIA
CP	Aceruloplasminemia	AR	Later-onset, slowly progressive NBIA w/onset after 1st decade
CoASY	CoPAN	AR	Early-onset, slowly progressive NBIA w/onset during 1st decade
DCAF17	Woodhouse-Sakati syndrome	AR	Early-onset, slowly progressive NBIA w/onset during 1st decade
FA2H	FAHN	AR	Early-onset, slowly progressive NBIA w/onset during 1st decade
FTL	Neuroferritinopathy	AD	Later-onset, slowly progressive NBIA w/onset after 1st decade
PANK2	Atypical PKAN	AR	Later-onset, slowly progressive NBIA w/onset after 1st decade
Classic PKAN	Early-onset rapidly progressive NBIA w/onset during 1st decade
PLA2G6	Atypical neuroaxonal dystrophy	AR	Early-onset, slowly progressive NBIA w/onset during 1st decade
Infantile neuroaxonal dystrophy	Early-onset, rapidly progressive NBIA w/onset during 1st decade
PLA2G6-associated dystonia-parkinsonism	Later-onset, slowly progressive NBIA w/onset after 1st decade
WDR45	BPAN	XL	Early-onset, slowly progressive NBIA w/onset during 1st decade
Unknown	Idiopathic NBIA		Later-onset, slowly progressive NBIA w/onset after 1st decade

Gene

Disease Name

MOI

Progression

ATP13A2

Kufor-Rakeb syndrome ¹

Later-onset, slowly progressive NBIA w/onset after 1st decade

C19orf12

MPAN

Early-onset (during 1st decade) or later-onset (after 1st decade), slowly progressive NBIA

Aceruloplasminemia

Later-onset, slowly progressive NBIA w/onset after 1st decade

CoASY

CoPAN

Early-onset, slowly progressive NBIA w/onset during 1st decade

DCAF17

Woodhouse-Sakati syndrome

Early-onset, slowly progressive NBIA w/onset during 1st decade

FA2H

FAHN

Early-onset, slowly progressive NBIA w/onset during 1st decade

FTL

Neuroferritinopathy

Later-onset, slowly progressive NBIA w/onset after 1st decade

PANK2

Atypical PKAN

Later-onset, slowly progressive NBIA w/onset after 1st decade

Classic PKAN

Early-onset rapidly progressive NBIA w/onset during 1st decade

PLA2G6

Atypical neuroaxonal dystrophy

Early-onset, slowly progressive NBIA w/onset during 1st decade

Infantile neuroaxonal dystrophy

Early-onset, rapidly progressive NBIA w/onset during 1st decade

PLA2G6-associated dystonia-parkinsonism

Later-onset, slowly progressive NBIA w/onset after 1st decade

WDR45

BPAN

Early-onset, slowly progressive NBIA w/onset during 1st decade

Unknown

Idiopathic NBIA

Later-onset, slowly progressive NBIA w/onset after 1st decade

From: Pantothenate Kinase-Associated Neurodegeneration

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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