Hypoprebetalipoproteinemia

We present the case of a 25-year-old man who had progressive generalised choreoathetosis, orofacial dyskinesia, feeding dystonia… Expand

A 16-year-old boy presented to our hospital with 4-yearhistory of generalized dystonia (predominantly craniocervical and upper… Expand

Neuroacanthocytosis is an inclusive term for a genetically heterogeneous group of disorders characterized by the association of… Expand

Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an… Expand

INTRODUCTION Pantothenate kinase deficiency (Hallervorden-Spatz syndrome, HSS) triggers cerebral neurodegeneration with iron… Expand

The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration… Expand

Abstract—HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome… Expand

We describe two unrelated patients with Hallervorden-Spatz, disease characterized by prominent facio-bucco-lingual dyskinesia… Expand

Article abstract-We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebetalipoproteinemia… Expand

We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and… Expand