eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases

Hallervorden-Spatz Disease: Follow-up

Author: Philip A Hanna, MD, Associate Professor, Department of Neuroscience, Seton Hall University School of Graduate Medical Education; Director, Parkinson Disease and Movement Disorders Ctr, Residency Program Director, New Jersey Neuroscience Institute, JFK Medical Center
Coauthor(s): Brian L Gerhardstein, MD, PhD, Staff Physician, Department of Neurology, New Jersey Neuroscience Institute, JFK Medical Center; Neeta Garg, MD, DM, Assistant Professor, Department of Neurology, State University of New York at Buffalo
Contributor Information and Disclosures

Updated: Dec 7, 2006

Follow-up

Further Inpatient Care

  • Admission for supportive care is occasionally necessary.

Further Outpatient Care

  • Referral to a neurologist, particularly a movement disorders specialist, is helpful. Rehabilitation physicians often are consulted to coordinate therapy regimens.

Inpatient & Outpatient Medications

Transfer

  • Transfer is seldom necessary.

Prognosis

  • The clinical course is variable. In most patients, the disease has a progressive course extending over several years, leading to death in early childhood. Some patients experience rapid deterioration of function secondary to dystonia, rigidity, dysphagia, and respiratory compromise and die within 1-2 years of disease onset. Other patients undergo a slower progression or even plateau for many years and may continue to function into the third decade of life (Hickman, 2001).

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Referral to a neurologist, particularly a movement disorders specialist, is helpful.
 


More on Hallervorden-Spatz Disease

Overview: Hallervorden-Spatz Disease
Differential Diagnoses & Workup: Hallervorden-Spatz Disease
Treatment & Medication: Hallervorden-Spatz Disease
Follow-up: Hallervorden-Spatz Disease
Multimedia: Hallervorden-Spatz Disease
References
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References

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  3. Feliciani M, Curatolo P. Early clinical and imaging (high-field MRI) diagnosis of Hallervorden- Spatz disease. Neuroradiology. Apr 1994;36(3):247-8. [Medline].

  4. Grimes DA, Lang AE, Bergeron C. Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome. J Neurol Neurosurg Psychiatry. Sep 2000;69(3):392-5. [Medline].

  5. Halliday W. The nosology of Hallervorden-spatz disease. J Neurol Sci. Dec 1995;134 Suppl:84-91. [Medline].

  6. Harper PS. Naming of syndromes and unethical activities: the case of Hallervorden and Spatz. Lancet. Nov 2 1996;348(9036):1224-5. [Medline].

  7. Hayflick SJ, Zhou B, Westaway SK, et al. A defect in vitamin B5 metabolism causes Hallervorden-Spatz syndrome as well as early onset Parkinsonism. Work in progress presented at: 126th Annual Meeting of. American Neurological Association (ANA); October 2001;Chicago, USA.

  8. Hayflick SJ. First scientific workshop on Hallervorden-Spatz syndrome: executive summary. Pediatr Neurol. Aug 2001;25(2):99-101. [Medline].

  9. Hayflick SJ. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. Dec 2003;15(6):572-7. [Medline].

  10. Hermann W, Reuter M, Barthel H, et al. Diagnosis of Hallervorden-Spatz disease using MRI, (123)I-beta-CIT- SPECT and (123)I-IBZM-SPECT. Eur Neurol. 2000;43(3):187-8. [Medline].

  11. Hickman SJ, Ward NS, Surtees RA, et al. How broad is the phenotype of Hallervorden-Spatz disease?. Acta Neurol Scand. Mar 2001;103(3):201-3. [Medline].

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  13. Johnson MA, Kuo YM, Westaway SK, et al. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann N Y Acad Sci. Mar 2004;1012:282-98. [Medline].

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  15. Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM. Altered neuronal mitochondrial coenzyme a synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J Neurosci. Jan 19 2005;25(3):689-98. [Medline].

  16. Kuo YM, Duncan JL, Westaway SK, et al. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum Mol Genet. Jan 1 2005;14(1):49-57. [Medline].

  17. Neumann M, Adler S, Schluter O, et al. 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 (Berl). Nov 2000;100(5):568-74. [Medline].

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  19. Saito Y, Kawai M, Inoue K, et al. Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course. J Neurol Sci. Aug 1 2000;177(1):48-59. [Medline].

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  23. Swaiman KF, Smith SA, Trock GL, et al. Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe- uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan?. Neurology. Mar 1983;33(3):301-5. [Medline].

  24. Taylor TD, Litt M, Kramer P, et al. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet. Dec 1996;14(4):479-81. [Medline].

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  26. Wakabayashi K, Fukushima T, Koide R, et al. Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology. Acta Neuropathol (Berl). Mar 2000;99(3):331-6. [Medline].

  27. Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden- Spatz syndrome. Nat Genet. Aug 2001;28(4):345-9. [Medline].

  28. Zimmerman AW, Stover ML, Grasso JA, et al. Uptake of 59Fe by skin fibroblasts and MAO activity in platelets from patients with Hallervorden-Spatz syndrome. Neurology. 1981;51:48.

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Further Reading

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Keywords

HSD, neurodegeneration with brain iron accumulation type 1, NBIA-1, late infantile neuroaxonal dystrophy, Hallervorden-Spatz disease, progressive extrapyramidal dysfunction, dementia, PANK2 gene, Hallervorden-Spatz syndrome

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Contributor Information and Disclosures

Author

Philip A Hanna, MD, Associate Professor, Department of Neuroscience, Seton Hall University School of Graduate Medical Education; Director, Parkinson Disease and Movement Disorders Ctr, Residency Program Director, New Jersey Neuroscience Institute, JFK Medical Center
Philip A Hanna, MD is a member of the following medical societies: Alpha Omega Alpha
Disclosure: Nothing to disclose.

Coauthor(s)

Brian L Gerhardstein, MD, PhD, Staff Physician, Department of Neurology, New Jersey Neuroscience Institute, JFK Medical Center
Disclosure: Nothing to disclose.

Neeta Garg, MD, DM, Assistant Professor, Department of Neurology, State University of New York at Buffalo
Neeta Garg, MD, DM is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Medical Editor

Christopher Luzzio, MD, Clinical Assistant Professor, Department of Neurology, University of Wisconsin at Madison
Christopher Luzzio, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Nestor Galvez-Jimenez, MD, Program Director of Movement Disorders, Department of Neurology, Division of Medicine, Director of Neurology Residency Training Program, Cleveland Clinic Florida
Nestor Galvez-Jimenez, MD is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society
Disclosure: Nothing to disclose.

CME Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
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