Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

Neurodegeneration associated with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders in which disruption of cellular mechanisms leads to accumulation of iron in the basal ganglia. This group includes patients with recently discovered mutations in the PLA2G6 gene encoding a c...

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Veröffentlicht in:	Neurology 2008-04, Vol.70 (18), p.1623-1629
Hauptverfasser:	KURIAN, M. A, MORGAN, N. V, ROSSER, E. M, WASSMER, E, GISSEN, P, MAHER, E. R, MACPHERSON, L, FOSTER, K, PEAKE, D, GUPTA, R, PHILIP, S. G, HENDRIKSZ, C, MORTON, J. E. V, KINGSTON, H. M
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Arabs - genetics Atrophy Basal Ganglia - chemistry Biological and medical sciences Brain - pathology Cohort Studies Consanguinity Corpus Callosum - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Progression DNA Mutational Analysis England - epidemiology European Continental Ancestry Group - genetics Female Group VI Phospholipases A2 - deficiency Group VI Phospholipases A2 - genetics Humans Infant Iron - analysis Magnetic Resonance Imaging Male Medical sciences Mutation Neuroaxonal Dystrophies - diagnostic imaging Neuroaxonal Dystrophies - epidemiology Neuroaxonal Dystrophies - genetics Neuroaxonal Dystrophies - metabolism Neuroaxonal Dystrophies - pathology Neurology Pakistan - ethnology Phenotype Radiography Syndrome
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