title: Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.
abstract: We describe two unrelated patients with Hallervorden-Spatz, disease characterized by prominent facio-bucco-lingual dyskinesia. Acanthocytosis and retinitis pigmentosa were additional findings. Brain MRI showed the typical 'tiger's eye' image of the globus pallidus. This phenotype closely resembled the so-called HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration), but extensive serum lipid study failed to demonstrate any lipoprotein abnormality. Our results raise the question whether HARP syndrome is an autonomous entity or a particular phenotype of Hallervorden-Spatz disease.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: S
authors.initials: S
authors.lastname: Cesaretti
authors.forename: M
authors.initials: M
authors.lastname: Mulinari
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: E
authors.initials: E
authors.lastname: Parrotta
authors.forename: A
authors.initials: A
authors.lastname: Montagnani
authors.forename: M
authors.initials: M
authors.lastname: Montagnani
authors.forename: M
authors.initials: M
authors.lastname: Anichini
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000050:Acanthocytes; D000293:Adolescent; D000328:Adult; D002784:Cholesterol / Q000097:blood*; D005917:Globus Pallidus; D006801:Humans; D008074:Lipoproteins / Q000097:blood*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000097:blood*; D012174:Retinitis Pigmentosa / Q000097:blood*
chemical_list: D008074:Lipoproteins; D002784:Cholesterol