Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN)

Movement Disorders

Volumn 26, Issue 9, 2011, Pages 1766-1767

  Bower, Matthew A ^a   Bushara, Khalaf ^a   Dempsey, Melissa A ^b   Das, Soma ^b   Tuite, Paul J ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; DEGENERATIVE DISEASE; DYSTONIA; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; IRON OVERLOAD; LETTER; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARKINSONISM; PHENOTYPE; PLA2G6 GENE; PRIORITY JOURNAL; SIBLING;

EID: 79961207244     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23617     Document Type: Letter

References (5)

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2. Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009; 65: 19-23.
3. Paisan-Ruiz C, Abi L, Schneider SA, et al. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 2010 [Epub ahead of print].
4. Kurian MA, Morgan NV, Macpherson L, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008; 70: 1623-1629.
5. Crompton D, Rehal PK, MacPherson L, et al. Multiplex ligation dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. Mol Gen Metab 2010; 100: 207-212.