[PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree].

Objective: To analyze the clinical presentation, imaging features, and the mutation of the pathogenic genes in a Chinese Han atypical neuroaxonal dystrophy pedigree. Methods: A family of atypical neuroaxonal dystrophy pedigree who came to Henan Provincal People's Hospital in July 2016 was included. Clinical presentation, imaging features of the pedigree were analyzed, and all exon gene detection of the proband was performed to capture the target variations, then verified by sanger sequence. Another 4 family members' and 100 normal healthy controls' gene sequence of the mutations were also verified. Results: The proband(Ⅱ(3)) of the family presented with walking unsteadily, intellectual disability, glossolalia, dystonia, epilepsy, and autonomic nervous dysfunction. The magnetic resonance imaging (MRI) of the proband showed cerebellar atrophy and iron deposit in basal ganglia. The gene detection showed the PLA2G6 gene compound complicated mutation of 80 codon p.A80T in the exon 3 and 331 codon p.D331Y in the exon 7. The two sisters of the proband (Ⅱ(1),Ⅱ(2)) had the same mutation, the father of the proband carried the p.A80T, however, the mother carried the D331Y mutation. One of the proband's sister (Ⅱ(1)), whose onset age was 10 years old, had the similar symptoms with the proband. The proband's another sister(Ⅱ(1)) had abnormal gait at 24 years old. However, the MRI of the two sisters all showed cerebellar atrophy. Conclusion: We report a PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy Chinese family, that is the p. A80T and p.D331Y mutation, which may be a pathogenic mutation to cause the family's disease.