Genetics of Neurodegeneration with Brain Iron Accumulation

被引：87

作者：

Gregory, Allison ^{[1
]}

Hayflick, Susan J. ^{[1
,2
,3
]}

机构：

[1] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA

[2] Dept Pediat, Portland, OR 97239 USA

[3] Dept Neurol, Portland, OR 97239 USA

来源：

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS | 2011年 / 11卷 / 03期

关键词：

Neurodegeneration with brain iron accumulation; NBIA; Pantothenate kinase-associated neurodegeneration; PKAN; Neuroaxonal dystrophy; INAD; Dystonia-parkinsonism; PLAN; Fatty acid hydroxylase-associated neurodegeneration; Woodhouse-Sakati syndrome; Kufor-Rakeb syndrome; Aceruloplasminemia; Neuroferritinopathy; PANK2; PLA2G6; FA2H; ATP13A2; C2orf37; CP; FTL; PHENOTYPIC SPECTRUM; DIABETES-MELLITUS; MENTAL-RETARDATION; PANK2; MUTATIONS; ATP13A2; DISEASE; PARKINSONISM; PLA2G6; HYPOGONADISM; STIMULATION;

D O I：

10.1007/s11910-011-0181-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available. Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets.

引用

页码：254 / 261

页数：8

共 51 条

[1]

Indian-Subcontinent NBIA: Unusual Phenotypes, Novel PANK2 Mutations, and Undetermined Genetic Forms [J].

Aggarwal, Annu ;

Schneider, Susanne A. ;

Houlden, Henry ;

Silverdale, Monty ;

Paudel, Reema ;

Paisan-Ruiz, Coro ;

Desai, Shrinivas ;

Munshi, Mihir ;

Sanghvi, Darshana ;

Hardy, John ;

Bhatia, Kailash P. ;

Bhatt, Mohit .

MOVEMENT DISORDERS, 2010, 25 (10) :1424-1431

[2]

INFANTILE NEUROAXONAL DYSTROPHY [J].

AICARDI, J ;

CASTELEIN, P .

BRAIN, 1979, 102 (DEC) :727-748

[3]

Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1 [J].

Al-Semari, Abdulaziz ;

Bohlega, Saeed .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (02) :149-160

[4]

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome [J].

Alazami, Anas M. ;

Al-Saif, Amr ;

Al-Semari, Abdulaziz ;

Bohlega, Saeed ;

Zlitni, Soumaya ;

Alzahrani, Fatema ;

Bavi, Prashant ;

Kaya, Namik ;

Colak, Dilek ;

Khalak, Hanif ;

Baltus, Andy ;

Peterlin, Borut ;

Danda, Sumita ;

Bhatia, Kailash P. ;

Schneider, Susanne A. ;

Sakati, Nadia ;

Walsh, Christopher A. ;

Al-Mohanna, Futwan ;

Meyer, Brian ;

Alkuraya, Fowzan S. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (06) :684-691

[5]

Intraventricular baclofen for dystonia: techniques and outcomes Clinical article [J].

Albright, A. Leland ;

Ferson, Susan S. .

JOURNAL OF NEUROSURGERY-PEDIATRICS, 2009, 3 (01) :11-14

[6]

AUTOSOMAL RECESSIVE ATAXIA, SLOW EYE-MOVEMENTS AND PSYCHOMOTOR RETARDATION [J].

ALDIN, ASN ;

ALKURDI, A ;

DASOUKI, M ;

WRIEKAT, AL ;

ALKHATEEB, M ;

MUBAIDIN, A ;

ALHIARI, M .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 124 (01) :61-66

[7]

Cellular responses to excess phospholipid [J].

Baburina, I ;

Jackowski, S .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (14) :9400-9408

[8]

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome [J].

Baumeister, FAM ;

Auer, DP ;

Hörtnagel, K ;

Freisinger, P ;

Meitinger, T .

NEUROPEDIATRICS, 2005, 36 (03) :221-222

[9]

Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations [J].

Behrens, Maria I. ;

Brueggemann, Norbert ;

Chana, Pedro ;

Venegas, Pablo ;

Kaegi, Marianne ;

Parrao, Teresa ;

Orellana, Patricia ;

Garrido, Cristian ;

Rojas, Cecilia V. ;

Hauke, Jan ;

Hahnen, Eric ;

Gonzalez, Rafael ;

Seleme, Nicolas ;

Fernandez, Veronica ;

Schmidt, Alexander ;

Binkofski, Ferdinand ;

Koempf, Detlef ;

Kubisch, Christian ;

Hagenah, Johann ;

Klein, Christine ;

Ramirez, Alfredo .

MOVEMENT DISORDERS, 2010, 25 (12) :1929-1937

[10]

Selective iron chelation in Friedreich ataxia:: biologic and clinical implications [J].

Boddaert, Nathalie ;

Sang, Kim Hanh Le Quart ;

Roetig, Agnes ;

Leroy-Willig, Anne ;

Gallet, Serge ;

Brunelle, Francis ;

Sidi, Daniel ;

Thalabard, Jean-Christophe ;

Munnich, Arnold ;

Cabantchik, Z. Ioav .

BLOOD, 2007, 110 (01) :401-408

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