PMID- 27516098
OWN - NLM
STAT- MEDLINE
DCOM- 20180205
LR  - 20181113
IS  - 1432-1920 (Electronic)
IS  - 0028-3940 (Linking)
VI  - 58
IP  - 10
DP  - 2016 Oct
TI  - Validation of the finding of hypertrophy of the clava in infantile neuroaxonal 
      dystrophy/PLA2G6 by biometric analysis.
PG  - 1035-1042
AB  - INTRODUCTION: Infantile neuroaxonal dystrophy (INAD), an autosomal recessive 
      neurodegenerative disorder due to PLA2G6 mutation, is classified both as a 
      PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the 
      neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset and 
      clinical presentation in INAD is variable. Typically described imaging features 
      of cerebellar atrophy, cerebellar cortex bright FLAIR signal, and globus pallidus 
      iron deposition are variable or late findings. We characterize clinical and 
      neuroimaging phenotypes in nine children with confirmed PLA2G6 mutations and show 
      a useful imaging feature, clava hypertrophy, which may aid in earlier 
      identification of patients. Measurements of the clava confirm actual enlargement, 
      rather than apparent enlargement due to volume loss of the other brain stem 
      structures. METHODS: A retrospective clinical and MRI review was performed. Brain 
      stem measurements were performed and compared with age-matched controls. RESULTS: 
      We identified nine patients, all with novel PLA2G6 gene mutations. MRI, available 
      in eight, showed clava hypertrophy, regardless of age or the absence of other 
      more typically described neuroimaging findings. Brain autopsy in our cohort 
      confirmed prominent spheroid bodies in the clava nuclei. CONCLUSION: Clava 
      hypertrophy is an important early imaging feature which may aid in 
      indentification of children who would benefit from specific testing for PLA2G6 
      mutations.
FAU - Al-Maawali, A
AU  - Al-Maawali A
AD  - Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 
      University of Toronto, Toronto, Ontario, Canada.
AD  - Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos 
      University, Muscat, Oman.
FAU - Yoon, G
AU  - Yoon G
AD  - Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 
      University of Toronto, Toronto, Ontario, Canada.
AD  - Division of Neurology, The Hospital for Sick Children, University of Toronto, 
      Toronto, Ontario, Canada.
FAU - Feigenbaum, A S
AU  - Feigenbaum AS
AD  - Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 
      University of Toronto, Toronto, Ontario, Canada.
AD  - Division of Genetics, Department of Pediatrics, University of California, San 
      Diego, La Jolla, CA, USA.
FAU - Halliday, W C
AU  - Halliday WC
AD  - Division of Pathology, DPLM, The Hospital for Sick Children, University of 
      Toronto, Toronto, Ontario, Canada.
FAU - Clarke, J T R
AU  - Clarke JT
AD  - Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 
      University of Toronto, Toronto, Ontario, Canada.
FAU - Branson, H M
AU  - Branson HM
AD  - Division of Paediatric Neuroradiology, The Hospital for Sick Children, University 
      of Toronto, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada.
FAU - Banwell, B L
AU  - Banwell BL
AD  - Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 
      USA.
FAU - Chitayat, D
AU  - Chitayat D
AD  - Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 
      University of Toronto, Toronto, Ontario, Canada.
AD  - The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and 
      Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, 
      Canada.
FAU - Blaser, Susan I
AU  - Blaser SI
AD  - Division of Paediatric Neuroradiology, The Hospital for Sick Children, University 
      of Toronto, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada. 
      susan.blaser@sickkids.ca.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160811
PL  - Germany
TA  - Neuroradiology
JT  - Neuroradiology
JID - 1302751
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Biometry/*methods
MH  - Child, Preschool
MH  - Diagnosis, Differential
MH  - Female
MH  - Genetic Predisposition to Disease/genetics
MH  - Group VI Phospholipases A2/*genetics
MH  - Humans
MH  - Hypertrophy
MH  - Infant
MH  - Magnetic Resonance Imaging/*methods
MH  - Male
MH  - Neuroaxonal Dystrophies/diagnostic imaging/*genetics/*pathology
MH  - Reproducibility of Results
MH  - Sensitivity and Specificity
OTO - NOTNLM
OT  - Atypical INAD (NBIA2B)
OT  - Clava
OT  - INAD (NBIA2A)
OT  - PLAN/PLA2G6
OT  - Seitelberger's disease
EDAT- 2016/10/21 06:00
MHDA- 2018/02/06 06:00
CRDT- 2016/08/13 06:00
PHST- 2016/04/07 00:00 [received]
PHST- 2016/07/07 00:00 [accepted]
PHST- 2016/10/21 06:00 [pubmed]
PHST- 2018/02/06 06:00 [medline]
PHST- 2016/08/13 06:00 [entrez]
AID - 10.1007/s00234-016-1726-6 [pii]
AID - 10.1007/s00234-016-1726-6 [doi]
PST - ppublish
SO  - Neuroradiology. 2016 Oct;58(10):1035-1042. doi: 10.1007/s00234-016-1726-6. Epub 
      2016 Aug 11.