Pigmentary pallidal degeneration

Common Name(s)

Pigmentary pallidal degeneration

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by {7:Gregory et al., 2009}). PKAN has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI ({10:Hayflick et al., 2003}; {19:Pellecchia et al., 2005}). {12:Kumar et al. (2006)} noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene. {7:Gregory et al. (2009)} provided a detailed review of the different forms of neurodegeneration with brain iron accumulation. In addition, some patients with Kufor-Rakeb syndrome ({606693}), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron Accumulation Neurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A ({256600}) and NBIA2B ({610217}), both caused by mutation in the PLA2G6 gene ({603604}); NBIA3 ({606159}), caused by mutation in the FTL gene ({134790}); NBIA4 ({614298}), caused by mutation in the C19ORF12 gene ({614297}); NBIA5 ({300894}), caused by mutation in the WDR45 gene ({300526}); and NBIA6 ({615643}), caused by mutation in the COASY gene ({609855}). See review of {22:Schneider and Bhatia (2012)} on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease ({606693}) and aceruloplasminemia ({604290}).
 

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)
 

Status: Recruiting

Condition Summary: Pantothenate Kinase-associated Neurodegeneration (PKAN)

 

Last Updated: 18 Aug 2014

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A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
 

Status: Recruiting

Condition Summary: Pantothenate Kinase-Associated Neurodegeneration

 

Last Updated: 24 Apr 2014

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