Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

Neurology

Volumn 75, Issue 15, 2010, Pages 1356-1361

  Yoshino, H ^a   Tomiyama, H ^a   Tachibana, N ^b   Ogaki, K ^a   Li, Y ^a   Funayama, M ^a   Hashimoto, T ^c   Takashima, S ^d   Hattori, N ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Okaya City Hospital   (Japan)

^c Specified Medical Corporation Jisenkai Aizawa Hospital   (Japan)

^d TOYAMA UNIVERSITY HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN PLA2G6; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS STRIATUM; DEMENTIA; DISEASE ASSOCIATION; DISEASE COURSE; DYSTONIA; FEMALE; FRONTOTEMPORAL DEMENTIA; HETEROZYGOSITY; HUMAN; HYPERREFLEXIA; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; SUBSTANTIA NIGRA;

ADOLESCENT; ADULT; AGE OF ONSET; BRAIN; DNA MUTATIONAL ANALYSIS; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; GROUP VI PHOSPHOLIPASES A2; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PARKINSONIAN DISORDERS; PHENOTYPE; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; YOUNG ADULT;

EID: 77958570876     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f73649     Document Type: Article

References (7)

1. Aicardi J, Castelein P. Infantile neuroaxonal dystrophy. Brain 1979;102:727-748. (Pubitemid 10205610)
2. Morgan NV, Westaway SK, Morton JE, et al. PLA2G6 encoding a phospholipase A2, is mutated in neurodegen-erative disorders with high brain iron. Nat Genet 2006;38: 752-754.
3. Mubaidin A, Roberts E, Hampshire D, et al. Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. J Med Genet 2003;40:543-546. (Pubitemid 36843080)
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. (Pubitemid 351620319)
5. Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neu-rol 2009;65:19-23.
6. Sina F, Shojaee S, Elahi E, et al. R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. Eur J Neurol 2009;16:101-104.
7. Wu Y, Jiang Y, Gao Z, et al. Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. Eur J Neurol 2009;16: 240-245.