Short reportAcanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities
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Cited by (28)
Neuroacanthocytosis
2011, Handbook of Clinical NeurologyCitation Excerpt :Mutations which leave some residual enzyme function result in atypical disease with a later onset and slower progression. HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) (Orrell et al., 1995; Malandrini et al., 1996) has been determined to be allelic with PKAN (Ching et al., 2002; Houlden et al., 2003). One case of Hardie et al.'s classic neuroacanthocytosis series (1991) most likely carried this diagnosis (Orrell et al., 1995).
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration (HARP Syndrome)
2010, Encyclopedia of Movement Disorders, Three-Volume SetHypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration (HARP Syndrome)
2010, Encyclopedia of Movement DisordersOther Choreas
2010, Blue Books of NeurologyCitation Excerpt :The typical MRI “eye-of-the-tiger” pattern of iron deposition in the globus pallidus is seen in most, but not all, of these patients.138 HARPP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration)139,140 is allelic with PKAN.141 In atypical cases, disease onset is in adulthood, with dystonia, rigidity, and gait freezing, but with slower progression and no retinopathy.
Parkinsonism and dystonia
2007, Handbook of Clinical NeurologyCitation Excerpt :8% of typical PANK patients have acanthocytosis. The occasional reported association of decreased pre‐betalipoprotein levels (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration: HARP syndrome) (Orrell et al., 1995; Malandrini et al., 1996) in patients with PANK2 mutations (Ching et al., 2002) does not appear to be of clinical significance and may be observed in normal subjects (Houlden et al., 2003; Danek and Hegele, 2004). In atypical cases disease onset is after the age of 20, with dystonia, rigidity and gait freezing, but slower progression.
Other Adult-Onset Movement Disorders with a Genetic Basis
2003, Genetics of Movement Disorders