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Title: Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
Authors: Kapoor, Seema
Hortnagel, Konstanze
Gogia, Siddhartha
Paul, Ritu
Malhotra, Vishal
Prakash, Anjali
Issue Date: 7-Mar-2005
Citation: Kapoor S, Hortnagel K, Gogia S, Paul R, Malhotra V, Prakash A. Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome). Indian Journal of Pediatrics. 2005 Mar; 72(3): 261-3
Abstract: Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.
Appears in Collections:Indian Journal of Pediatrics

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