Pantothenate kinase-associated neurodegeneration - Wikipedia
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.
Pantothenate Kinase-Associated Neurodegeneration
2002年8月13日 · Pantothenate kinase-associated neurodegeneration (PKAN) is a form of neurodegeneration with brain iron accumulation (NBIA). NBIA is defined as the group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia.
Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood.
PKAN - NBIA Disorders Association
Pantothenate Kinase-Associated Neurodegeneration is one of the most common forms of NBIA. Approximately 30-35% of the NBIA population has PKAN. It is caused by mutations in the PANK2 gene on chromosome 20. This gene provides the instruction for making an enzyme called pantothenate kinase.
Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the ...
Pantothenate Kinase-Associated Neurodegeneration (PKAN)
2023年7月8日 · Pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz disease, is a rare autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain nuclei and characterized by progressive extrapyramidal dysfunction and dementia.
Pantothenate Kinase-Associated Neurodegeneration
2019年9月10日 · Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder).
A therapeutic approach to pantothenate kinase associated
2018年10月23日 · There are three human PANK genes, and inactivating mutations in PANK2 lead to pantothenate kinase associated neurodegeneration (PKAN). Here we performed a library screen followed by chemical...
Pantothenate kinase-associated neurodegeneration
2024年11月19日 · Pantothenate kinase-associated neurodegeneration (PKAN), historically also known as Hallervorden-Spatz syndrome, is an autosomal recessive disorder causing involuntary spasticity and progressive dementia. It is a subset of neurodegeneration with brain iron accumulation (NBIA).
Pantothenate kinase-associated neurodegeneration: Clinical …
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and dementia.