PMID- 28091863
OWN - NLM
STAT- MEDLINE
DCOM- 20180320
LR  - 20181113
IS  - 1473-4230 (Electronic)
IS  - 1473-4222 (Linking)
VI  - 16
IP  - 3
DP  - 2017 Jun
TI  - Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal 
      Axonal Dystrophy.
PG  - 742-745
LID - 10.1007/s12311-017-0843-z [doi]
AB  - 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 (0)) and 36 months (t (1)) in patient 1 and at age 22 (t (0)) and 31 months (t 
      (1)) in patient 2. Data at t (0) were compared to those obtained in 18 control 
      children aged 14-44 months with normal MRI. At t (0), both patients showed 
      markedly lower cerebellar volume compared to controls. At t (1), 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.
FAU - Mascalchi, Mario
AU  - Mascalchi M
AD  - Neuroradiology, Meyer Children's Hospital, Florence, Italy. 
      mario.mascalchi@unifi.it.
AD  - "Mario Serio" Department of Experimental and Clinical Biomedical Sciences, 
      University of Florence, Viale Pieraccini 6, 50139, Florence, Italy. 
      mario.mascalchi@unifi.it.
FAU - Mari, Francesco
AU  - Mari F
AD  - Neurology Unit and Laboratories, Meyer Children's Hospital, University of 
      Florence, Florence, Italy.
FAU - Berti, Beatrice
AU  - Berti B
AD  - Neurology Unit and Laboratories, Meyer Children's Hospital, University of 
      Florence, Florence, Italy.
FAU - Bartolini, Emanuele
AU  - Bartolini E
AD  - Neurology Unit and Laboratories, Meyer Children's Hospital, University of 
      Florence, Florence, Italy.
FAU - Lenge, Matteo
AU  - Lenge M
AD  - Neurology Unit and Laboratories, Meyer Children's Hospital, University of 
      Florence, Florence, Italy.
FAU - Bianchi, Andrea
AU  - Bianchi A
AD  - Neuroradiology, Meyer Children's Hospital, Florence, Italy.
FAU - Antonucci, Laura
AU  - Antonucci L
AD  - Neuroradiology, Meyer Children's Hospital, Florence, Italy.
FAU - Santorelli, Filippo M
AU  - Santorelli FM
AD  - IRCCS Stella Maris Foundation, Pisa, Italy.
FAU - Garavaglia, Barbara
AU  - Garavaglia B
AD  - Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 
      Milan, Italy.
FAU - Guerrini, Renzo
AU  - Guerrini R
AD  - Neurology Unit and Laboratories, Meyer Children's Hospital, University of 
      Florence, Florence, Italy.
AD  - IRCCS Stella Maris Foundation, Pisa, Italy.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cerebellum
JT  - Cerebellum (London, England)
JID - 101089443
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
SB  - IM
MH  - Atrophy
MH  - Axons/*pathology
MH  - Cerebellar Diseases/pathology
MH  - Child, Preschool
MH  - Disease Progression
MH  - Female
MH  - Group VI Phospholipases A2/*genetics
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging/methods
MH  - Male
MH  - Neuroaxonal Dystrophies/diagnosis/*genetics
OTO - NOTNLM
OT  - Brain mapping
OT  - Cerebellar degeneration
OT  - MRI
OT  - Pediatric
EDAT- 2017/01/17 06:00
MHDA- 2018/03/21 06:00
CRDT- 2017/01/17 06:00
PHST- 2017/01/17 06:00 [pubmed]
PHST- 2018/03/21 06:00 [medline]
PHST- 2017/01/17 06:00 [entrez]
AID - 10.1007/s12311-017-0843-z [pii]
AID - 10.1007/s12311-017-0843-z [doi]
PST - ppublish
SO  - Cerebellum. 2017 Jun;16(3):742-745. doi: 10.1007/s12311-017-0843-z.