Follow‐up study of 25 Chinese children with PLA2G6‐associated neurodegeneration

Abstract

This is the largest report on PLAN in the Chinese population. We suggest that PLA2G6 should be screened in any patient exhibiting progressive gait disturbance, bradykinesia, dysarthria, tremors, mood/behavior changes or cognitive decline, especially when associated with cerebellar atrophy and/or iron accumulation and/or cerebral atrophy.

Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management

“…Electroencephalography is abnormal with frontal-predominant fast rhythms and sometimes overt epileptiform discharges. Though seizures have been described as rare and only occurring late [ 20 ] a recent review of 25 children with INAD noted epilepsy in 17% [ 21 ]. Most children with classic INAD die before the age of 10.…”

Infantile and childhood onset PLA2G6‐associated neurodegeneration in a large North African cohort

“…GenotypeÀphenotype correlates have already been proposed in PLAN: the coexistence of two null mutations was invariably associated with the severe infantile-onset presentation, whilst patients with the childhood-and adult-onset phenotypes always carried at least one missense change with potential residual protein function and not unequivocally predicted as pathogenic [8,10,11,16,17]. These correlates find at least a partial explanation in functional studies of the enzymatic activity of PLA2G6 mutants.…”

“…However, other studies did not mention dystonia as a major feature of classic INAD [9,10,19,21]. The occurrence of seizures is also variable amongst different studies, being either absent [20] or reported in up to 15%-30% of patients [10,11,19].…”

Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

“…The first study discussed 10 patients with INAD, who had been diagnosed through neuropathology, that were analyzed for PLA2G6 mutations (17). The second was a follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration that found 27 different mutations, of which 13 were novel (18).…”