title: Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).
abstract: We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. Investigation showed acanthocytosis and hypoprebetalipoproteinemia, and electroretinograms were typical of tapetoretinal degeneration. T2-weighted MRI showed decreased signal intensity in the pallidal nuclei with central hyperintensity, constituting the "eye-of-the-tiger" sign. The patient's sister and mother have a similar lipid disorder but no retinal or neurologic disease. We also report two patients with clinical and radiologic features similar to those of the patient with HARP syndrome but who had normal lipid studies. These various combinations of components of HARP syndrome may be caused by several distinct genetic diseases or may represent variable manifestations of a contiguous gene defect.
authors.affiliation: University Department of Clinical Neurology, National Hospital, London, UK.
authors.forename: R W
authors.initials: RW
authors.lastname: Orrell
authors.forename: P J
authors.initials: PJ
authors.lastname: Amrolia
authors.forename: A
authors.initials: A
authors.lastname: Heald
authors.forename: P G
authors.initials: PG
authors.lastname: Cleland
authors.forename: J S
authors.initials: JS
authors.lastname: Owen
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
authors.forename: C D
authors.initials: CD
authors.lastname: Marsden
mesh_terms: D000050:Acanthocytes / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology; D005260:Female; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood*; D008079:Lipoproteins, VLDL / Q000097:blood*; D008279:Magnetic Resonance Imaging; D008297:Male; D009410:Nerve Degeneration; D012174:Retinitis Pigmentosa / Q000473:pathology*; D013577:Syndrome
chemical_list: D008079:Lipoproteins, VLDL