Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy

Mario Mascalchi, Francesco Mari, Beatrice Berti, Emanuele Bartolini, Matteo Lenge, Andrea Bianchi, Laura Antonucci, Filippo M. Santorelli, Barbara Garavaglia, Renzo Guerrini

Research output: Contribution to journalArticlepeer-review


Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (t0) and 36 months (t1) in patient 1 and at age 22 (t0) and 31 months (t1) in patient 2. Data at t0 were compared to those obtained in 18 control children aged 14–44 months with normal MRI. At t0, both patients showed markedly lower cerebellar volume compared to controls. At t1, both patients exhibited a remarkable decrease of cerebellar volume (−25.8% in patient 1; −16.5% in patient 2) and of frontal (−6.8% in patient 1 and −3.3% in patient 2) and occipital (−9.8% in patient 1 and −9.1% in patient 2) cortical GM volume. Our MRI morphometry study indicates that INAD is characterized by a remarkably fast progression of cerebellar atrophy and mild atrophy of the frontal and occipital cortex presumably secondary to deafferentation in the cortical-pons-cerebellum-rubro-thalamus-cortical circuit and visual pathways.

Original languageEnglish
Pages (from-to)742-745
Number of pages4
Issue number3
Publication statusPublished - Jun 1 2017


  • Brain mapping
  • Cerebellar degeneration
  • MRI
  • Pediatric

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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