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- Title
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.
- Authors
Mascalchi, Mario; Mari, Francesco; Berti, Beatrice; Bartolini, Emanuele; Lenge, Matteo; Bianchi, Andrea; Antonucci, Laura; Santorelli, Filippo; Garavaglia, Barbara; Guerrini, Renzo
- Abstract
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 ( t ) and 36 months ( t ) in patient 1 and at age 22 ( t ) and 31 months ( t ) in patient 2. Data at t were compared to those obtained in 18 control children aged 14-44 months with normal MRI. At t , both patients showed markedly lower cerebellar volume compared to controls. At t , 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.
- Subjects
CEREBRAL atrophy; CEREBELLUM diseases; DEGENERATION (Pathology); MAGNETIC resonance imaging; CEREBELLUM degeneration
- Publication
Cerebellum, 2017, Vol 16, Issue 3, p742
- ISSN
1473-4222
- Publication type
Article
- DOI
10.1007/s12311-017-0843-z