Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome,[1] is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death.

Disruption of this enzyme affects energy and lipid metabolism and may lead to accumulation of potentially harmful compounds in the brain, including iron.

[citation needed] PANK2 encodes a 1.85Kb transcript which is derived from seven exons covering a total distance of approximately 3.5Mb of genomic DNA.

[citation needed] This disorder has been reported in specific communities based on intra-community marriages where both parents of the child are carrying the same mutation.

Individuals exhibiting any of the above listed symptoms are often tested using MRI (Magnetic Resonance Imaging) for a number of neuro-related disorders.

Development of diagnostic criteria continues in the hope of further separating PKAN from other forms of neurodegenerative diseases featuring NBIA.

[citation needed] Microscopic features of PKAN include high levels of iron in the globus pallidus and the pars reticulata of substantia nigra, evident as a characteristic rust-brown discoloration[7] in a pattern called the eye-of-the-tiger sign;[8] lipofuscin and neuromelanin concentrated in the iron-accumulating areas; oval, nonnucleated structures representing swollen axons whose cytoplasm swells with vacuoles, referred to as spheroids, axon schollen, or neuroaxonal dystrophy; and Lewy bodies.

Autopsies revealed brown discolorations in different areas of the brain (particularly of interest were the globus pallidus and substantia nigra regions).

Meyer(1958) was followed by Elejalde et al. (1978) who described 5 affected family members and hypothesized that the disorder originated in central Europe, backing up his hypothesis with clinical and genetic analysis.

[19] The gene was localized to chromosome 20p by Taylor et al. (1996) [20] who suggested that this disorder should be referred to as neurodegeneration with brain iron accumulation (NBIA1) to avoid the objectionable eponym[21] of Hallervorden-Spatz.

The disease was renamed 'pantothenate kinase-associated neurodegeneration' or PKAN by Zhou et al. (2001)[3] who suggested the name to avoid misinterpretation and to better reflect the true nature of the disorder.