Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)

J. J. Higgins, M. C. Patterson, N. M. Papadopoulos, R. O. Brady, P. G. Pentchev, N. W. Barton

Research output: Contribution to journalArticle

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Abstract

We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia. Investigations revealed hypoprebetalipoproteinemia, acanthocytosis, atypical retinitis pigmentosa, and evidence of iron deposition in the pallidal nuclei. Electroneuromyography and skin and sural nerve biopsies were normal. The 'eye-of-the-tiger' sign, used to describe the pallidal nuclei in Hallervorden-Spatz syndrome, was present on T 2-weighted MRIs (GE Signa, 1.5 T). Phase-contrast microscopy of whole blood showed 80 to 90% acanthocytes whose morphology was confirmed by electron microscopy. High-resolution lipoprotein electrophoresis demonstrated an absence of the pre-beta fraction. This case differs phenotypically from the previous reports of Hallervorden- Spatz disease with acanthocytosis by the presence of prominent orofacial dyskinesia and abnormal serum lipoproteins.

Original languageEnglish (US)
Pages (from-to)194-198
Number of pages5
JournalNeurology
Volume42
Issue number1
StatePublished - 1992
Externally publishedYes

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Pantothenate Kinase-Associated Neurodegeneration
Abetalipoproteinemia
Dyskinesias
Hypolipoproteinemias
Lipoproteins
Acanthocytes
Tigers
Phase-Contrast Microscopy
Sural Nerve
Retinitis Pigmentosa
Dystonia
Dementia
Electrophoresis
Electron Microscopy
Iron
Biopsy
Skin
Serum
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
pleiotrophin

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Higgins, J. J., Patterson, M. C., Papadopoulos, N. M., Brady, R. O., Pentchev, P. G., & Barton, N. W. (1992). Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology, 42(1), 194-198.

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). / Higgins, J. J.; Patterson, M. C.; Papadopoulos, N. M.; Brady, R. O.; Pentchev, P. G.; Barton, N. W.

In: Neurology, Vol. 42, No. 1, 1992, p. 194-198.

Research output: Contribution to journalArticle

Higgins, JJ, Patterson, MC, Papadopoulos, NM, Brady, RO, Pentchev, PG & Barton, NW 1992, 'Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)', Neurology, vol. 42, no. 1, pp. 194-198.
Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology. 1992;42(1):194-198.
Higgins, J. J. ; Patterson, M. C. ; Papadopoulos, N. M. ; Brady, R. O. ; Pentchev, P. G. ; Barton, N. W. / Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). In: Neurology. 1992 ; Vol. 42, No. 1. pp. 194-198.
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