Hallervorden-Spatz Syndrome

Genetics of Movement Disorders

Volumn , Issue , 2003, Pages 429-441

  Hayflick, Susan J ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77954737214     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012566652-7/50040-X     Document Type: Chapter

References (92)

1. Afshar K., Gonczy P., DiNardo S., Wasserman S.A. Fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster. Genetics 2001, 157:1267-1276.
2. Alberca R., Rafel E., Chinchon I., Vadillo J., Navarro A. Late onset parkinsonian syndrome in Hallervorden-Spatz disease. J. Neurol. Neurosurg. Psychiatry 1987, 50:1665-1668.
3. Albright A.L., Barry M.J., Fasick P., Barron W., Shultz B. Continuous intrathecal baclofen infusion for symptomatic generalized dystonia. Neurosurgery 1996, 38:934-938. discussion 938-939.
4. Arawaka S., Saito Y., Murayama S., Mori H. Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein. Neurology 1998, 51:887-889.
5. Arthur A.S., Fergus A.H., Lanzino G., Mathys J., Kassell N.F., Lee K.S. Systemic administration of the iron chelator deferiprone attenuates subarachnoid hemorrhage-induced cerebral vasospasm in the rabbit. Neurosurgery 1997, 41:1385-1391. discussion 1391-1392.
6. Battistella P.A., Midena E., Suppiej A., Carollo C. Optic atrophy as the first symptom in Hallervorden-Spatz syndrome. Childs Nerv. Syst. 1998, 14:135-138.
7. Benke T., Butterworth B. Palilalia and repetitive speech: two case studies. Brain Lang. 2001, 78:62-81.
8. Benke T., Hohenstein C., Pocwe W., Butterworth B. Repetitive speech phenomena in Parkinson's disease. J. Neurol. Neurosurg. Psychiatry 2000, 69:319-324.
9. Bruscoli F., Corsi A., Cavicchi C., Carloni R., Ferioli I., Gemmani A., Crociati M., Pompili A. Therapeutic objectives and strategies in NBIA 1 (Hallovorden-Spatz syndrome). Minerva Anestesiol. 1998, 64:529-534.
10. Castelnau P., Zilbovicius M., Ribeiro M., Hertz-Pannier L., Ogier H., Evrard P. Striatal and pontocerebellar hypoperfusion in Hallervorden-Spatz syndrome. Pediatr. Neurol. 2001, 25:170-174.
11. Castrillon D.H., Gonczy P., Alexander S., Rawson R., Eberhart C.G., Viswanathan S., DiNardo S., Wasserman S.A. Toward a molecular genetic analysis of spermatogenesis in Drosophila melanogaster: characterization of male-sterile mutants generated by single P element mutagenesis. Genetics 1993, 135:489-505.
12. Ching K.H.L., Westaway S.K., Levinson B., Zhou B., Higgins J.J., Gitschier J., Hayflick S.J. HARP syndrome is allelic with pantothenate kinase associated neurodegeneration 2002, submitted.
13. Coppeto J.R., Lessell S. A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. Neurology 1990, 40:1359-1363.
14. Curtis A.R., Fey C., Morris C.M., Bindoff L.A., Ince P.G., Chinnery P.F., Coulthard A., Jackson M.J., Jackson A.P., McHale D.P., Hay D., Barker W.A., Markham A.F., Bates D., Curtis A., Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat. Genet. 2001, 28:350-354.
15. Defendini R., Markesbery W.R., Mastri A.R., Duffy P.E. Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology. J. Neurol. Sci. 1973, 20:7-23.
16. Dooling E.C., Richardson E.P., Davis K.R. Computed tomography in Hallervorden-Spatz disease. Neurology 1980, 30:1128-1130.
17. Dooling E.C., Schoene W.C., Richardson E.P. Hallervorden-Spatz syndrome. Arch. Neurol. 1974, 30:70-83.
18. Drayer B. Magnetic resonance imaging and brain iron: implications in the diagnosis and pathochemistry of movement disorders and dementia. Barrow Neurol. Inst. Q. 1987, 15-30.
19. Drayer B. Magnetic resonance imaging and extrapyramidal movement disorders. Eur. Neurol. 1989, 29:9-12.
20. Gallucci M., Cardona F., Arachi M., Splendiani A., Bozzao A., Passariello R. Follow-up MR studies in Hallervorden-Spatz disease. J. Comput. Assist. Tomogr. 1990, 14:118-120.
21. Galvin J.E., Giasson B., Hurtig H.I., Lee V.M., Trojanowski J.Q. Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha- beta-, and gamma-synuclein neuropathology. Am. J. Pathol. 2000, 157:361-368.
22. Gitlin J.D. Aceruloplasminemia. Pediatr. Res. 1998, 44:271-276.
23. Gravel R.A., Akerman B.R., Lamhonwah A.M., Loyer M., Leon-del-Rio A., Italiano I. Mutations participating in interallelic complementation in propionic acidemia. Am. J. Hum. Genet. 1994, 55:51-58.
24. Guimarães J., Santos J.V. Generalized freezing in Hallervorden-Spatz syndrome: case report. Eur. J. Neurol. 1999, 6:509-513.
25. Hallervorden J. Uber eine familiare Erkrankung im extrapyramidalen System. Dtsch. Z. Nervenheilkd. 1924, 204-210.
26. Hallervorden J., Spatz H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra. Z. Ges. Neurol. Psychiatr. 1922, 79:254-302.
27. Halliday W. The nosology of Hallervorden-Spatz disease. J. Neurol. Sci. 1995, 134(Suppl.):84-91.
28. Harding C.O., Gillingham M.B., van Calcar S.C., Wolff J.A., Verhoeve J.N., Mills M.D. Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 1999, 22:276-280.
29. Harper P.S. Naming of syndromes and unethical activites-the case of hallervorden and spatz. Lancet 1996, 348:1224-1225.
30. Hayflick S.J., Penzien J.M., Michl W., Sharif U.M., Rosman N.P., Wheeler P.G. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr. Neurol. 2001, 25:166-169.
31. Hayflick S.J., Westaway S.K., Levinson B., Zhou B., Johnson M.A., Ching K.H.L., Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N. Engl. J. Med. 2002, (accepted).
32. Hermann W., Barthel H., Reuter M., Georgi P., Dietrich J., Wagner A. Hallervorden-Spatz disease: findings in the nigrostriatal system. Nervenarzt 2000, 71:660-665.
33. Hermann W., Reuter M., Barthel H., Dietrich J., Georgi P., Wagner A. Diagnosis of Hallervorden-Spatz disease using MRI (123)I-beta-CIT-SPECT and (123)I-IBZM-SPECT. Eur. Neurol. 2000, 43:187-188.
34. 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). Neurology 1992, 42:194-198.
35. Hill J.M. Brain Iron: Neurochemical and Behavioural Aspects 1988, Taylor & Francis, London.
36. Hill J.M., Switzer R.C. The regional distribution and cellular localization of iron in the rat brain. Neuroscience 1984, 11:595-603.
37. Justesen C.R., Penn R.D., Kroin J.S., Egel R.T. Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report. J. Neurosurg. 1999, 90:551-554.
38. Karim M.A., Valentine V.A., Jackowski S. Human pantothenate kinase 1 (PANK1) gene: characterization of the cDNAs, structural organization and mapping of the locus to chromosome 10q23.2-23.31. Am. J. Hum. Genet. 2000, 67:A984.
39. Koeppen A.H., Dickson A.C. Iron in the Hallervorden-Spatz syndrome. Pediatr. Neurol. 2001, 25:148-155.
40. Kornyey S. Die Stoffwechechselstorungen bei der Hallervorden-Spatzschen Krankheit. Z. Neurol. 1964, 178-183.
41. Luckenbach M.W., Green W.R., Miller N.R., Moser H.W., Clark A.W., Tennekoon G. Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. Am. J. Ophthalmol. 1983, 95:369-382.
42. Miyajima H., Takahashi Y., Kamata T., Shimizu H., Sakai N., Gitlin J.D. Use of desferrioxamine in the treatment of aceruloplasminemia. Ann. Neurol. 1997, 41:404-407.
43. Morphy M.A., Feldman J.A., Kilburn G. Hallervorden-Spatz disease in a psychiatric setting [see comments]. J. Clin. Psychiatry 1989, 50:66-68.
44. Mutoh K., Okuno T., Ito M., Mikawa H. Somatosensory evoked potentials in Hallervorden-Spatz-neuroaxonal- dystrophy complex with dorsal column involvement. Clin. Electroencephalogr. 1990, 21:58-66.
45. Mutoh K., Okuno T., Ito M., Nakano S., Mikawa H., Fujisawa I., Asato R. MR imaging of a group I case of Hallervorden-Spatz disease. J. Comput. Assist. Tomogr. 1988, 12:851-853.
46. Neumann M., Adler S., Schluter O., Kremmer E., Benecke R., Kretzschmar H.A. Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathol. (Berlin) 2000, 100:568-574.
47. Newell F.W., Johnson R.O.D., Huttenlocher P.R. Pigmentary degeneration of the retina in the Hallervorden-Spatz syndrome. Am. J. Ophthalmol. 1979, 88:467-471.
48. Newell K.L., Boyer P., Gomez-Tortosa E., Hobbs W., Hedley-Whyte E.T., Vonsattel J.P., Hyman B.T. Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. J. Neuropathol. Exp. Neurol. 1999, 58:1263-1268.
49. Odawara T., Iseki E., Yagishita S., Amano N., Kosaka K., Hasegawa K., Matsuda Y., Kowa H. An autopsied case of juvenile parkinsonism and dementia, with a widespread occurrence of Lewy bodies and spheroids. Clin. Neuropathol. 1992, 11:131-134.
50. Orrell R.W., Amrolia P.J., Heald A., Cleland P.G., Owen J.S., Morgan-Hughes J.A., Harding A.E., Marsden C.D. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 1995, 45:487-492.
51. Park B.E., Netsky M.G., Betsill W.L. Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders. Neurology 1975, 25:1172-1178.
52. Perry T.L., Norman M.G., Yong V.W., Whiting S., Crichton J.U., Hansen S., Kish S.J. Hallervorden-Spatz disease: cysteine accumulation and cysteine dioxygenase deficiency in the globus pallidus. Ann. Neurol. 1985, 18:482-489.
53. Pettigrew A.L., Jackson L.G., Ledbetter D.H. New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. Am. J. Med. Genet. 1991, 38:200-207.
54. Provenzale J.M., Barboriak D.P., Sims K. Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease. AJNR 1995, 16:809-813.
55. Rock C.O., Calder R.B., Karim M.A., Jackowski S. Pantothenate kinase regulation of the intracellular concentration of coenzyme A. J. Biol. Chem 2000, 275:1377-1383.
56. Roth A.M., Hepler R.S., Mukoyama M., Cancilla P.A., Foos R.Y. Pigmentary retinal dystrophy in Hallervorden-Spatz disease: clinicopathological report of a case. Sur. Ophthalmol. 1971, 16:24-35.
57. Rutledge J.N., Hilal S.K., Silver A.J., Defendini R., Fahn S. Magnetic resonance imaging of dystonic states. Adv. Neurol. 1988, 50:265-275.
58. Saito Y., Kawai M., Inoue K., Sasaki R., Arai H., Nanba E., Kuzuhara S., Ihara Y., Kanazawa I., Murayama S. Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course. J. Neurol. Sci. 2000, 177:48-59.
59. Savoiardo M., Halliday W.C., Nardocci N., Strada L., D'Incerti L., Angelini L., Rumi V., Tesoro-Tess J.D. Hallervorden-Spatz disease: MR and pathologic findings. AJNR 1993, 14:155-162.
60. Schaffert D.A., Johnsen S.D., Johnson P.C., Drayer B.P. Magnetic resonance imaging in pathologically proven Hallervorden-Spatz disease. Neurology 1989, 39:440-442.
61. Scheer P.J., Perz A., Ebner F., Kratky-Dunitz M. Magnetic resonance tomography confirms the diagnosis of Hallervorden-Spatz disease. Padiatri. Padol. 1988, 23:245-252.
62. Seibel M.O., Date E.S., Zeiner H., Schwartz M. Rehabilitation of patients with Hallervorden-Spatz syndrome. Arch. Phys. Med. Rehabil. 1993, 74:328-329.
63. Sethi K.D., Adams R.J., Loring D.W., Gammal T. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann. Neurol. 1988, 24:69.
64. Shevell M. Racial hygiene, active euthanasia, and Julius Hallervorden [see comments]. Neurology 1992, 42:2214-2219.
65. Shevell M. Naming of syndromes [letter; comment]. Lancet 1996, 348:1662.
66. Shevell M.I., Peiffer J. Julius Hallervorden's wartime activities: implications for science under dictatorship. Pediatr. Neurol. 2001, 25:162-165.
67. Spatz H. Uber des Eisenmachweiss in Gehirn besonders in Zentren des extra-pyramidalmotorischen Systems. Z. Gesamte Neurol. Psychiatry 1922, 77:261.
68. Spatz H. Uber stoffwechseleigent Umlichkeiten in den Stammganglienen. Z. Gesamte Neurol. Psychiatry 1922, 78:641.
69. Sugiyama H., Hainfellner J.A., Schmid-Siegel B., Budka H. Neuroaxonal dystrophy combined with diffuse Lewy body disease in a young adult. Clin. Neuropathol. 1993, 12:147-152.
70. Swaiman K.F. Hallervorden-Spatz syndrome and brain iron metabolism. Arch. Neurol. 1991, 48:1285-1293.
71. Swaiman K.F. Hallervorden-Spatz syndrome. Pediatr. Neurol. 2001, 25:102-108.
72. Swaiman K.F., Smith S.A., Trock G.L., Siddiqui A.R. Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe- uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease or ceroid storage disease with abnormal isotope scan?. Neurology 1983, 33:301-305.
73. Swisher C.N., Menkes J.H., Cancilla P.A., Dodge P.R. Coexistence of Hallervorden-Spatz disease with acanthocytosis. Trans. Am. Neurol. Assoc. 1972, 97:212.
74. Szanto J., Gallyas F. A study of iron metabolism in neuropsychiatric patients. Hallervorden-Spatz disease. Arch. Neurol. 1966, 14:438-442.
75. Tabuchi M., Mori E., Yamadori A. The role of magnetic resonance imaging in the diagnosis of Hallervorden-Spatz disease. Rinsho Shinkeigaku 1990, 30:972-977.
76. Tanfani G., Mascalchi M., Dal Pozzo G.C., Taverni N., Saia A., Trevisan C. MR imaging in a case of Hallervorden-Spatz disease. J. Comput. Assist. Tomogr. 1987, 11:1057-1058.
77. Terepolsky D., Clarke J.T.R., Blaser S.I. Evolution of the neuroimaging changes in fucosidosis type II. J. Inherit. Metab. Dis. 1996, 19:775-781.
78. Tripathi R.C., Tripathi B.J., Bauserman S.C., Park J.K. Clinicopathologic correlation and pathogenesis of ocular and central nervous system manifestations in Hallervorden-Spatz syndrome. Acta Neuropathol. 1992, 83:113-119.
79. Tsukamoto H., Inui K., Taniike M., Nishimoto J., Midorikawa M., Yoshimine T., Kato A., Ikeda T., Hayakawa T., Okada S. A case of Hallervorden-Spatz disease: progressive and intractable dystonia controlled by bilateral thalamotomy. Brain Dev. 1992, 14:269-272.
80. Tuite P.J., Provias J.P., Lang A.E. 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.
81. Vakili S., Drew A.L., Von Schuching S., Becker D., Zeman W. Hallervorden-Spatz syndrome. Arch. Neurol. 1977, 34:729-738.
82. Volkl A., Ule G. Trace elements in human brain: Iron concentrations of 13 brain areas as a function of age. Neurology 1972, 202:449-454.
83. Wakabayashi K., Fukushima T., Koide R., Horikawa Y., Hasegawa M., Watanabe Y., Noda T., Eguchi I., Morita T., Yoshimoto M., Iwatsubo T., Takahashi H. Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology. Acta Neuropathol. (Berlin) 2000, 99:331-336.
84. Wakabayashi K., Yoshimoto M., Fukushima T., Koide R., Horikawa Y., Morita T., Takahashi H. 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.
85. Westaway S.K., Levinson B., Ching K.H.L., Zhou B., Johnson M.A., Gitschier J., Hayflick S.J. Molecular diagnosis of pantothenate kinase associated neurodegeneration 2002, submitted.
86. Williamson K., Sima A.A., Curry B., Ludwin S.K. Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. Ann. Neurol. 1982, 11:335-343.
87. Yang E.Y., Campbell A., Bondy S.C. Configuration of thiols dictates their ability to promote iron-induced reactive oxygen species generation. Redox Rep. 2000, 5:371-375.
88. Yoon S.J., Koh Y.H., Floyd R.A., Park J.W. Copper, zinc superoxide dismutase enhances DNA damage and mutagenicity induced by cysteine/iron. Mutat. Res. 2000, 448:97-104.
89. Yun M., Park C.G., Kim J.Y., Rock C.O., Jackowski S., Park H.W. Structural basis for the feedback regulation of Escherichia coli pantothenate kinase by coenzyme A. J. Biol. Chem. 2000, 275:28,093-28,099.
90. Zhou B., Bae S.K., Malone A.C., Levinson B.B., Kuo Y., Cilio M.R., Bertini E., Hayflick S.J., Gitschier J.M. hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA. Pediatr. Neurol. 2001, 25:156-161.
91. Zhou B., Westaway S.K., Levinson B., Johnson M.A., Gitschier J., Hayflick S.J. A novel patothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat. Genet. 2001, 28:345-349.
92. Zupanc M.L., Chun R.W., Gilbert-Barness E.F. Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. Pediatr. Neurol. 1990, 6:349-352.