Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).

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dc.contributor.authorKapoor, Seemaen_US
dc.contributor.authorHortnagel, Konstanzeen_US
dc.contributor.authorGogia, Siddharthaen_US
dc.contributor.authorPaul, Rituen_US
dc.contributor.authorMalhotra, Vishalen_US
dc.contributor.authorPrakash, Anjalien_US
dc.date.accessioned2005-03-07en_US
dc.date.accessioned2009-05-30T13:53:24Z
dc.date.available2005-03-07en_US
dc.date.available2009-05-30T13:53:24Z
dc.date.issued2005-03-07en_US
dc.description.abstractHallervorden-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.en_US
dc.description.affiliationDivision of Genetics, Maulana Azad Medical College & LN Hospital, New Delhi, India. seemam@vsnl.comen_US
dc.identifier.citationKapoor 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): 261-3en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/82129
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshBrain --pathologyen_US
dc.subject.meshChilden_US
dc.subject.meshDiagnostic Errorsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMagnetic Resonance Imagingen_US
dc.subject.meshPantothenate Kinase-Associated Neurodegeneration --diagnosisen_US
dc.subject.meshPhosphotransferases (Alcohol Group Acceptor) --geneticsen_US
dc.titlePantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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