title: Pantothenate kinase associated neurodegeneration (Hallervorden - Spatz syndrome).
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.
authors.affiliation: Division of Genetics, Maulana Azad Medical College & LN Hospital, New Delhi, India. seemam@vsnl.com.
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.affiliation: Institute of Human Genetics, GSF Research Centre for Environment and Health, Neuherberg, Germany.
authors.forename: Konstanze
authors.initials: K
authors.lastname: Hörtnagel
authors.affiliation: Division of Genetics, Maulana Azad Medical College & LN Hospital, New Delhi, India.
authors.forename: Siddhartha
authors.initials: S
authors.lastname: Gogia
authors.affiliation: Division of Genetics, Maulana Azad Medical College & LN Hospital, New Delhi, India.
authors.forename: Ritu
authors.initials: R
authors.lastname: Paul
authors.affiliation: Division of Genetics, Maulana Azad Medical College & LN Hospital, New Delhi, India.
authors.forename: Vishal
authors.initials: V
authors.lastname: Malhotra
authors.affiliation: Division of Genetics, Maulana Azad Medical College & LN Hospital, New Delhi, India.
authors.forename: Anjali
authors.initials: A
authors.lastname: Prakash
keywords: Hallervorden-spatz syndrome; PANK 2 gene; Pantothenate kinase associated neurodegeneration