The cause of Parkinson's disease (PD) remains unknown in most patients. Since 1997, with
the first genetic mutation known to cause PD described in SNCA gene, many other genes …

Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) includes a
series of neurodegenerative diseases that result from the mutations in PLA2G6. PLAN has …

Neurodegeneration with brain iron accumulation (NBIA) represents a group of
neurodegenerative disorders characterized by abnormal iron accumulation in the brain. In …

Background and Purpose Infantile neuroaxonal dystrophy (INAD) is a subtype of PLA2G6-
Associated Neurodegeneration (PLAN) with an age of early onset and severe clinical …

Introduction This study reports a novel mutation site of the phospholipase A2 group VI
(PLA2G6) gene, and analyzes the information of 67 previously published cases to elucidate …

Background Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological
disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 …

Background: Audiological manifestations of patients with PLA2G6-associated
neurodegeneration are limited. Objective: To analyze the audiological findings in a cohort of …

Introdução: A Distrofia Neuroaxonal Infantil (DNAI), também conhecida como doença de
Seitelberger, é uma doença neurodegenerativa rara, autossómica recessiva, associada a …

Resumen La Distrofia Neuroaxonal Infantil, también conocida como enfermedad de
Seitelberger, fue inicialmente descrita en 1952 como un raro trastorno neurodegenerativo …

Background Infantile neuroaxonal dystrophy is an autosomal recessive neurological
disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of …