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Beta-propeller protein-associated neurodegeneration(BPAN)

MedGen UID:
489843
Concept ID:
CN168656
Disease or Syndrome
Synonyms: BPAN
 
Gene (location): WDR45 (Xp11.23)

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

Recent clinical studies

Etiology

Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP
Parkinsonism Relat Disord 2014 Mar;20(3):332-6. Epub 2013 Dec 10 doi: 10.1016/j.parkreldis.2013.11.019. [Epub ahead of print] PMID: 24368176
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P
Brain 2013 Jun;136(Pt 6):1708-17. Epub 2013 May 17 doi: 10.1093/brain/awt095. [Epub ahead of print] PMID: 23687123Free PMC Article
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ
Am J Hum Genet 2012 Dec 7;91(6):1144-9. Epub 2012 Nov 21 doi: 10.1016/j.ajhg.2012.10.019. [Epub ahead of print] PMID: 23176820Free PMC Article

Diagnosis

Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP
Parkinsonism Relat Disord 2014 Mar;20(3):332-6. Epub 2013 Dec 10 doi: 10.1016/j.parkreldis.2013.11.019. [Epub ahead of print] PMID: 24368176
Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ
Int Rev Neurobiol 2013;110:85-90. doi: 10.1016/B978-0-12-410502-7.00005-3. PMID: 24209435
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P
Brain 2013 Jun;136(Pt 6):1708-17. Epub 2013 May 17 doi: 10.1093/brain/awt095. [Epub ahead of print] PMID: 23687123Free PMC Article
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ
Am J Hum Genet 2012 Dec 7;91(6):1144-9. Epub 2012 Nov 21 doi: 10.1016/j.ajhg.2012.10.019. [Epub ahead of print] PMID: 23176820Free PMC Article

Prognosis

Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP
Parkinsonism Relat Disord 2014 Mar;20(3):332-6. Epub 2013 Dec 10 doi: 10.1016/j.parkreldis.2013.11.019. [Epub ahead of print] PMID: 24368176
Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ
Int Rev Neurobiol 2013;110:85-90. doi: 10.1016/B978-0-12-410502-7.00005-3. PMID: 24209435

Clinical prediction guides

Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ
Am J Hum Genet 2012 Dec 7;91(6):1144-9. Epub 2012 Nov 21 doi: 10.1016/j.ajhg.2012.10.019. [Epub ahead of print] PMID: 23176820Free PMC Article

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