Format

Send to:

Choose Destination

Neurodegeneration with brain iron accumulation

MedGen UID:
448017
Concept ID:
CN043643
Disease or Syndrome
 
Related genes: C19orf12, DCAF17, PANK2, FA2H, ATP13A2, WDR45, PLA2G6, FTL, CP
OMIM® Phenotypic series: PS234200

Disease characteristics

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Definition  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Allison Gregory  |  Susan Hayflick   view full author information

Additional description

From GHR
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.Pantothenate kinase-associated neurodegeneration is characterized by an abnormal buildup of iron in certain areas of the brain. A particular change called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder.Researchers have described classic and atypical forms of pantothenate kinase-associated neurodegeneration. The classic form usually appears in early childhood, causing severe problems with movement that worsen rapidly. Features of the atypical form appear later in childhood or adolescence and progress more slowly. Signs and symptoms vary, but the atypical form is more likely than the classic form to involve speech defects and psychiatric problems.A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), which was historically described as a separate syndrome, is now considered part of pantothenate kinase-associated neurodegeneration. Although HARP is much rarer than classic pantothenate kinase-associated neurodegeneration, both conditions involve problems with movement, dementia, and vision abnormalities.  https://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegeneration

Recent clinical studies

Etiology

Arber CE, Li A, Houlden H, Wray S
Neuropathol Appl Neurobiol 2016 Apr;42(3):220-41. Epub 2015 Jun 2 doi: 10.1111/nan.12242. PMID: 25870938Free PMC Article
Colombelli C, Aoun M, Tiranti V
J Inherit Metab Dis 2015 Jan;38(1):123-36. Epub 2014 Oct 10 doi: 10.1007/s10545-014-9770-z. PMID: 25300979
Kurian MA, Hayflick SJ
Int Rev Neurobiol 2013;110:49-71. doi: 10.1016/B978-0-12-410502-7.00003-X. PMID: 24209433
Stamelou M, Lai SC, Aggarwal A, Schneider SA, Houlden H, Yeh TH, Batla A, Lu CS, Bhatt M, Bhatia KP
Mov Disord 2013 Sep;28(10):1325-9. Epub 2013 Jun 4 doi: 10.1002/mds.25490. PMID: 23736975Free PMC Article
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S
Brain 2010 Mar;133(Pt 3):701-12. Epub 2010 Mar 5 doi: 10.1093/brain/awq022. PMID: 20207700Free PMC Article

Diagnosis

Schneider SA
Curr Neurol Neurosci Rep 2016 Jan;16(1):9. doi: 10.1007/s11910-015-0608-3. PMID: 26739693
Amaral LL, Gaddikeri S, Chapman PR, Roy R, Gaddikeri RS, Marussi VH, Bag AK
J Neuroimaging 2015 Jul-Aug;25(4):539-51. Epub 2014 Dec 24 doi: 10.1111/jon.12195. PMID: 25545045
Stamelou M, Lai SC, Aggarwal A, Schneider SA, Houlden H, Yeh TH, Batla A, Lu CS, Bhatt M, Bhatia KP
Mov Disord 2013 Sep;28(10):1325-9. Epub 2013 Jun 4 doi: 10.1002/mds.25490. PMID: 23736975Free PMC Article
Schneider SA, Bhatia KP
Semin Pediatr Neurol 2012 Jun;19(2):57-66. doi: 10.1016/j.spen.2012.03.005. PMID: 22704258
Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB
J Neurol 2012 Nov;259(11):2434-9. Epub 2012 May 15 doi: 10.1007/s00415-012-6521-7. PMID: 22584950

Therapy

Cossu G, Abbruzzese G, Matta G, Murgia D, Melis M, Ricchi V, Galanello R, Barella S, Origa R, Balocco M, Pelosin E, Marchese R, Ruffinengo U, Forni GL
Parkinsonism Relat Disord 2014 Jun;20(6):651-4. Epub 2014 Mar 12 doi: 10.1016/j.parkreldis.2014.03.002. PMID: 24661465
Zorzi G, Nardocci N
Int Rev Neurobiol 2013;110:153-64. doi: 10.1016/B978-0-12-410502-7.00008-9. PMID: 24209438
Zorzi G, Zibordi F, Chiapparini L, Nardocci N
Semin Pediatr Neurol 2012 Jun;19(2):82-6. doi: 10.1016/j.spen.2012.03.007. PMID: 22704261
Dusek P, Schneider SA
Curr Opin Neurol 2012 Aug;25(4):499-506. doi: 10.1097/WCO.0b013e3283550cac. PMID: 22691760
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S
Brain 2010 Mar;133(Pt 3):701-12. Epub 2010 Mar 5 doi: 10.1093/brain/awq022. PMID: 20207700Free PMC Article

Prognosis

Szyszko TA, Dunn JT, O'Doherty MJ, Reed L, Lin JP
Nucl Med Commun 2015 May;36(5):469-76. doi: 10.1097/MNM.0000000000000273. PMID: 25646707
Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E
Mov Disord 2013 Feb;28(2):228-32. Epub 2012 Nov 19 doi: 10.1002/mds.25271. PMID: 23166001
Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H
Neurosci Lett 2012 Aug 8;523(1):35-8. Epub 2012 Jun 25 doi: 10.1016/j.neulet.2012.06.036. PMID: 22743658Free PMC Article
Kruer MC, Boddaert N
Semin Pediatr Neurol 2012 Jun;19(2):67-74. doi: 10.1016/j.spen.2012.04.001. PMID: 22704259Free PMC Article
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S
Brain 2010 Mar;133(Pt 3):701-12. Epub 2010 Mar 5 doi: 10.1093/brain/awq022. PMID: 20207700Free PMC Article

Clinical prediction guides

Szyszko TA, Dunn JT, O'Doherty MJ, Reed L, Lin JP
Nucl Med Commun 2015 May;36(5):469-76. doi: 10.1097/MNM.0000000000000273. PMID: 25646707
Cossu G, Abbruzzese G, Matta G, Murgia D, Melis M, Ricchi V, Galanello R, Barella S, Origa R, Balocco M, Pelosin E, Marchese R, Ruffinengo U, Forni GL
Parkinsonism Relat Disord 2014 Jun;20(6):651-4. Epub 2014 Mar 12 doi: 10.1016/j.parkreldis.2014.03.002. PMID: 24661465
Stamelou M, Lai SC, Aggarwal A, Schneider SA, Houlden H, Yeh TH, Batla A, Lu CS, Bhatt M, Bhatia KP
Mov Disord 2013 Sep;28(10):1325-9. Epub 2013 Jun 4 doi: 10.1002/mds.25490. PMID: 23736975Free PMC Article
Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H
Neurosci Lett 2012 Aug 8;523(1):35-8. Epub 2012 Jun 25 doi: 10.1016/j.neulet.2012.06.036. PMID: 22743658Free PMC Article
Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S
Brain 2010 Mar;133(Pt 3):701-12. Epub 2010 Mar 5 doi: 10.1093/brain/awq022. PMID: 20207700Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center