Pediatric Neurology
Volume 25, Issue 2 , Pages 102-108 , August 2001

Hallervorden-Spatz syndrome

  • Kenneth F Swaiman, MD

      Affiliations

    • Division of Pediatric Neurology; Departments of Neurology and Pediatrics; University of Minnesota; Minneapolis, Minnesota, USA
    • Corresponding Author InformationCommunications should be addressed to: Dr. Swaiman; 1821 University Avenue W., N-188, St. Paul, MN 55104

Received 10 January 2001 ,Accepted 18 January 2001.

References 

  1. Hallervorden J, Spatz H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus Pallidus und der Substantia nigra. Z Ges Neurol Psychiat. 1922;79:254–302
  2. Shevell M. Racial hygiene, active euthanasia, and Julius Hallervorden. Neurology. 1992;42:2214–2219
  3. Wigboldus JU, Bruyn GW. Hallervorden-Spatzdisease. In:  Vinken PJ,  Bruyn GW editor. Handbook of clinical neurology. Amsterdam: North Holland Publishers; 1968;p. 664–681
  4. Kalinowsky L. Familire erkrankung mit besonderer beteiligung der stammganglien. Mschr Psychiatr Neurol. 1927;66:168–190
  5. Messing Z. Die Hallervorden-Spatzsche Krankheit. Zbl ges Neurol Psychiat. 1934;71:524–525
  6. Messing Z. Choroba Hallervordena-Spatza. Roczn Psychiat Polsk 1933;21:261–75, 425–6.
  7. Dooling EC, Schoene WC, Richardson EP. Hallervorden-Spatz syndrome. Arch Neurol. 1974;30:70–83
  8. Dymecki J, Bertrand E, Tomankiewicz Z, Szuniewicz H. Hallervorden-Spatz disease in an adult patient. Folia Neuropathol. 1999;37:235–238
  9. Mourelatos Z, Golden JA. 24 year old female with progressive lower extremity dystonia, dysarthia, dysphagia and mental impairment. Brain Pathology. 2000;10:171–172
  10. Tuite PJ, Provias JP, Lang AE. Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. J Neurol Neurosurg Psychiatry. 1996;61:523–527
  11. Halliday W. The nosology of Hallervorden-Spatz disease. J Neurol Sci. 1995;134(Suppl):84–91
  12. Swaiman KF, Smith SA, Trock GL, Siddiqui AR. Sea-blue histiocytes, lymphocytic cytosomes, and 59Fe -studies in Hallervorden-Spatz syndrome. Neurology. 1983;33:301–305
  13. Roth AM, Hepler RS, Mukoyama M, Cancilla PA, Foos RY. Pigmentary retinal dystrophy in Hallervorden-Spatz disease (Clinicopathological report of a case). Surv Ophthalmol. 1971;16:24–35
  14. Swisher CN, Menkes JH, Cancilla PA, Dodge PR. Coexistence of Hallervorden-Spatz disease with acanthocytosis. Trans Am Neurol Assoc. 1972;97:212–216
  15. Luckenbach MW, Green WR, Miller NR, Moser HW, Clark AW, Tennekoon G. Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. Am J Ophthalmol. 1983;95:369–382
  16. Köhler B. Hallervorden-Spatz-syndrom mit akanthzytose. Monatsschr Kinderheilkd. 1989;137:616–619
  17. Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology. 1992;42:194–198
  18. Malandrini A, Cesaretti S, Mulinari M, et al.  Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. J Neurol Sci. 1996;140:129–131
  19. Szanto J, Gallyas F. A study of iron metabolism in neuropsychiatric patients (Hallervorden-Spatz disease). Arch Neurol. 1966;14:438–442
  20. Vakili S, Drew AL, Von Schuching S, Becker D, Zeman W. Hallervorden-Spatz syndrome. Arch Neurol. 1977;34:729–738
  21. Swaiman KF, Smith SA, Trock GL, Siddiqui AR. Sea-blue histiocytes, lymphocytic cytosomes and 59Fe studies in Hallervorden-Spatz disease. Neurology. 1980;30:379
  22. Zimmerman AW, Karimeddini MK, Ramsby GR, Zimmer AE. Hallervorden-Spatz syndrome. Increased cerebral uptake of 59Fe and demonstration of striatal iron deposits on CT scans. Neurology. 1981;31:179
  23. Zupanc ML, Chun RWM, Gilbert-Barness EF. Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. Pediatr Neurol. 1990;6:345–352
  24. Park BE, Netsky MG, Betsill WL. Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders. Neurology. 1975;25:1172–1178
  25. Swaiman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol. 1991;48:1285–1293
  26. Van Kirk MP, Larsen PD, O’Connor PS. New computed tomography scan finding in Hallervorden-Spatz syndrome. J Clin Neuro Ophthalmol. 1986;6:86–90
  27. Boltshauser E, Lang W, Janzer R, et al.  Computed tomography in Hallervorden-Spatz disease. Neuropediatrics. 1987;18:81–83
  28. Tennison MB, Bouldin TW, Whaley RA. Mineralization of the basal ganglia detected by CT in Hallervorden-Spatz syndrome. Neurology. 1988;38:154–155
  29. Drayer BP. Magnetic resonance imaging and brain iron (Implications in the diagnosis and pathochemistry of movement disorders and dementia). BNI. 1987;3:15–30
  30. Tanfani G, Mascalchi M, Dal Pozzo GC, Taverni N, Saia A, Trevisan C. MR imaging in a case of Hallervorden-Spatz disease. J Comput Assist Tomogr. 1987;11:1057–1058
  31. Mutoh K, Okuno T, Ito M, Nakano S, Mikawa H, Fujisawa I, et al. MR imaging of a group I case of Hallervorden-Spatz disease. J Comput Assist Tomogr. 1988;12:851–853
  32. Sethi KD, Adams RJ, Loring DW, el Gammal T. Hallervorden-Spatz syndrome. Clinical and magnetic resonance imaging correlations. Ann Neurol. 1988;24:692–694
  33. Rutledge JN, Hilal SK, Silver AJ, Defendini R, Fahn S. Magnetic resonance imaging of dystonic states. Adv Neurol. 1988;50:265–275
  34. Ambrosetto P, Nonni R, Bacci A, Gobbi G. Late onset familial Hallervorden-Spatz disease (MR findings in two sisters). Am J Neuroradiol. 1992;13:394–396
  35. Savoiardo M, Halliday WC, Nardocci N, et al.  Hallervorden-Spatz disease. MR and pathologic findings. Am J Neuroradiol. 1993;14:155–162
  36. Schaffert DA, Johnsen SD, Johnson PC, Drayer BP. Magnetic resonance imaging in pathologically proven Hallervorden-Spatz disease. Neurology. 1989;39:440–442
  37. van der Knaap MS, Valk J, de Neeling N, Nauta JJP. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology. 1991;33:478–493
  38. Hallervorden J. Uber eine familiare Erkrankung im extrapyramidalen System. Dtsch Z Nervenheilk. 1924;81:204–210
  39. Wakabayashi K, Yoshimoto M, Fukushima T, et al.  Widespread occurrence of alpha-synuclein/NACP-immunoreactive neuronal inclusions in juvenile and adult-onset Hallervorden-Spatz disease with Lewy bodies. Neuropathol Appl Neurobiol. 1999;25:363–368
  40. Hallgren B, Sourander P. The effect of age on the non-haemin iron in the human brain. J Neurochem. 1958;3:47–51
  41. Seitelberger F. Eine unbekannte Form von infantiler Lipoid-Speicher-Krankheit des Gehirns. Proc lst Int Congr Neuropatho. 1952;3:323–333Rome
  42. Seitelberger F. Eine einzigartige Stoffwechselkrankheit der Ganglienzellen des Zentral-Nervensystems. Proc 5th Int Congr Neurol. 1953;3:484;Lisbon
  43. Rabinowicz T, Wildi E. Spastic amaurotic axonal idiocy. A familial juvenile form of lipo-glycoprotidic thesaurismosis including a pallidal siderosis. In:  Cummings JN editors. Cerebral lipidosis. Oxford: Blackwell; 1957;p. 34–47
  44. Malandrini A, Cavallaro T, Fabrizi GM, et al.  Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Virchows Arch. 1995;427:415–421
  45. Malandrini A, Bonuccelli U, Parrotta E, Ceravolo R, Berti G, Guazzi GC. Myopathic involvement in two cases of Hallervorden-Spatz disease. Brain Dev. 1995;17:286–290
  46. Taylor TD, Litt M, Kramer P, et al.  Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nature Genet. 1996;14:479–481
  47. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallevorden-Spatz syndrome. Nat Genet. 2001;28:345–349
  48. Justesen CR, Penn RD, Kroin JS, Egel RT. Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Neurosurgery. 1999;90:551–554
  49. Albright AL, Barry MJ, Fasick P, Barron W, Shultz B. Continuous intrathecal baclofen infusion for symptomatic generalized dystonia. Neurosurgery. 1996;38:934–938
  50. O’Dwyer TP, Timon C, Walsh MA. Surgical management of drooling in the neurologically damaged child. J Laryngol Otol. 1989;103:750–752
  51. Shahar E, Nowaczyk M, Tervo RC. Rehabilitation of communication impairment in dystonia musculorum deformans. Pediatr Neurol. 1987;3:97–100

PII: S0887-8994(01)00253-3

Pediatric Neurology
Volume 25, Issue 2 , Pages 102-108 , August 2001

Article Tools