Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration is an inherited disorder caused by pathogenic variants in PANK2. It causes progressive neurological problems and often iron accumulation in the brain, especially in the globus pallidus.

Pantothenate kinase: Pantothenate kinase catalyzes the first regulated step in coenzyme A biosynthesis. PANK2 encodes the mitochondrial pantothenate kinase whose loss disrupts this pathway.
Dystonia: Dystonia is a movement disorder involving sustained or intermittent muscle contractions that cause abnormal movements or postures. It is a common and disabling movement problem in this disorder.
Hallervorden–Spatz disease: Hallervorden–Spatz disease is an obsolete eponym historically applied to a group of disorders with brain iron accumulation. The name was replaced because it grouped distinct conditions and honored physicians implicated in Nazi-era crimes.
PLA2G6-associated neurodegeneration: PLA2G6-associated neurodegeneration is an inherited neurological disorder caused by pathogenic variants in PLA2G6. It can resemble this condition clinically but arises from a different gene and cellular pathway.
Globus pallidus: The globus pallidus is a deep-brain structure involved in regulating movement. Iron accumulation and tissue damage are especially prominent here.
Parkinsonism: Parkinsonism is a group of movement signs including slowness, rigidity, and sometimes tremor. Some affected people develop parkinsonian features as the disease progresses.
Neuroferritinopathy: Neuroferritinopathy is an inherited movement disorder caused by FTL variants and associated with abnormal brain iron deposition. It is another genetic brain iron disorder, but its cause and inheritance differ.
Beta-propeller protein-associated neurodegeneration: Beta-propeller protein-associated neurodegeneration is an inherited brain iron disorder caused by variants in WDR45. Its X-linked inheritance and often later presentation distinguish it from PANK2-related disease.
Iron metabolism: Iron metabolism comprises the processes that absorb, transport, store, and recycle iron. Abnormal brain iron handling is a defining feature, though its causal role remains unsettled.
Magnetic resonance imaging: Magnetic resonance imaging produces detailed images of internal structures using magnetic fields and radio waves. Brain MRI can reveal the characteristic iron-associated eye-of-the-tiger appearance.

Linked from 1 page

Pantothenic acidBroader topic: This disorder disrupts coenzyme A synthesis despite involving the pathway that processes pantothenate.