Two unusual cases of PLA2G6-associated neurodegeneration from India

Kulkarni, Shilpa; Garg, Montey; Sayed, Rafat; Patil, Varsha A

doi:10.4103/0972-2327.168641

Cited by 5 publications

(7 citation statements)

References 11 publications

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“…The patient's ABR indicated hearing loss; however, INAD associated with hearing impairments has been rarely reported in previous studies ( 16 – 18 ). To date, only one other study has reported on a PLA2G6 mutation leading to INAD with hearing loss ( 18 ). In the above study, two mutations, namely c.A2047 T at p. K683× and c.T 671 C at p. L224P, were reported ( 18 ).…”

Section: Discussionmentioning

confidence: 81%

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Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

Wang

Tang

2018

Exp Ther Med

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Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder. Phospholipase A2 group VI (PLA2G6) gene mutations have been identified in the majority of individuals with INAD. The present case report is on a Chinese female pediatric patient (age, 18 months) diagnosed with INAD with deafness. To date, only four cases of INAD with hearing loss have been reported, PLA2G6-association has not been investigated. Next-generation DNA sequencing technology was used to identify disease-associated genes and Sanger sequencing was applied to verify the mutation in the patient's pedigree. Two mutations were identified in the PLA2G6 gene: c.1T>C (E2) and c.497 (E4) to c.496 (E4): Insert C. The distribution frequency of those mutations in the Single Nucleotide Polymorphism, HapMap, 1000 Genomes and Exome Aggregation Consortium databases was 0. However, cases of INAD appear to be underreported, particularly those from China. The identification of two mutations in the present study suggests unique PLA2G6 mutations in Chinese patients, and greatly expands on the spectrum of known mutations in INAD patients.

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Section: Discussionmentioning

confidence: 81%

“…To date, only one other study has reported on a PLA2G6 mutation leading to INAD with hearing loss ( 18 ). In the above study, two mutations, namely c.A2047 T at p. K683× and c.T 671 C at p. L224P, were reported ( 18 ). The deafness may be associated with the mutations of PLA2G6 or have other causes, which requires further study.…”

Section: Discussionmentioning

confidence: 99%

Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

Wang

Tang

2018

Exp Ther Med

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“…Few studies have reported the association of sensorineural hearing loss in children with INAD. [7][8][9] Iannello et al 9 reported the presence of severe sensorineural hearing loss in a 5-year-old child based on BAEPs. Kulkarni et al 8 reported the presence of hearing loss in two children aged 3 and The pathophysiological basis for the hearing loss and other associated symptoms of INAD may be speculated to axonal degeneration in both the central and peripheral nervous system.…”

Section: Discussionmentioning

confidence: 99%

“…Few studies have reported the association of sensorineural hearing loss in children with INAD. 7 8 9 Iannello et al 9 reported the presence of severe sensorineural hearing loss in a 5-year-old child based on BAEPs. Kulkarni et al 8 reported the presence of hearing loss in two children aged 3 and 4 years with INAD.…”

Section: Discussionmentioning

confidence: 99%

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Audiological Findings in Children with PLA2G6-Associated Neurodegeneration

2022

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Audiological manifestations of patients with PLA2G6 associated neurodegeneration (PLAN) are limited. We analyzed the audiological findings in a cohort of 13 children with infantile neuroaxonal dystrophy (INAD). Patients underwent a battery of audiological tests including tympanometry, distortion product otoacoustic emissions, impedance audiometry and Brainstem Auditory Evoked Potentials (BAEP’s). Audiological studies revealed abnormal findings in 10 out of 13 children (77%). The findings indicated sensorineural hearing loss in six and auditory neuropathy spectrum disorder in four children. This study may extend the auditory findings for INAD. Additional studies on quality of life and cognitive-brain degeneration related to this disease is required before making appropriate recommendations for aural rehabilitation.

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