Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: Further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration

Parkinsonism and Related Disorders

Volumn 21, Issue 4, 2015, Pages 420-422

  Xie, Fei ^a   Cen, Zhidong ^a   Ouyang, Zhiyuan ^a   Wu, Sheng ^a   Xiao, Jianfeng ^b   Luo, Wei ^a  

^a THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

PLA2G6; PLA2G6 associated neurodegeneration; Pure autosomal recessive early onset parkinsonism

Indexed keywords

AMANTADINE; BENSERAZIDE; DNA; LEVODOPA; PHOSPHOLIPASE A2; RNA; TRIHEXYPHENIDYL; PHOSPHOLIPASE A2 GROUP VI; PLA2G6 PROTEIN, HUMAN;

ADULT; AUTOSOMAL RECESSIVE DISORDER; BRADYKINESIA; CASE REPORT; CONSANGUINITY; DISEASE COURSE; DNA EXTRACTION; DRUG RESPONSE; DRUG WITHDRAWAL; FBXO7 GENE; GAIT DISORDER; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; LETTER; LEUKOCYTE; MALE; MUSCLE RIGIDITY; NAUSEA; NERVE DEGENERATION; ONSET AGE; PARKINSONISM; PLA2G6 GENE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RNA EXTRACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TREMOR; GENETICS; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE;

ADULT; AGE OF ONSET; CONSANGUINITY; GROUP VI PHOSPHOLIPASES A2; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS; PHENOTYPE;

EID: 84925345784     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.01.012     Document Type: Letter

References (5)

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