Neurodegeneration with brain iron accumulation syndromes (NBIAS)

Neurodegeneration with brain iron accumulation syndromes (NBIAS)

[10 genes]

TOURNAROUND TIME: 6 WEEKS

ATP13A2 C19orf12 COASY CP
DCAF17 FA2H FTL PANK2
PLA2G6 WDR45
NBIAS stands for ‘neurodegeneration with brain iron accumulation syndromes’ and covers a series of heterogeneous, often overlapping entities whose main characteristic is the accumulation of iron in the brain. This accumulation is predominantly observed at the level of basal ganglia on brain MRI (T2, spin-echo, and gradient echo sequences). One of its most frequent forms is pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome), which is generally recognized on MRI by the ‘eye of the tiger’ sign (a hypointense area with a hyperintense center in the globus pallidus).

The prevalence of these syndromes is estimated at around 1-3/1 000 000 individuals. They present clinically as neurodegenerative diseases with movement disorders and pyramidal, cerebellar, autonomic, and eventually cognitive and psychiatric signs.

Our NBIAS panel includes several causative genes, allowing an approximate diagnostic yield of 65% (Schneider et al., 2016). In order of importance, it is worth highlighting the following genes: PANK2 (35%-50%), PLA2G6 (20%), C19orf12 (6%-10%), and WDR45 (1%-2%) (Gregory and Hayflick, 2014).

REFERENCES
  1. Gregory A, Hayflick S. Neurodegeneration with Brain Iron Accumulation Disorders Overview. 2013 Feb 28 [updated 2014 Apr 24]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017

 

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