PMID- 30619446
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 9
DP  - 2018
TI  - Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments.
PG  - 597
LID - 10.3389/fgene.2018.00597 [doi]
LID - 597
AB  - Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that 
      often cuts short the life span of a child to 10 years. With a typical onset at 6 
      months of age, INAD is characterized by regression of acquired motor skills, 
      delayed motor coordination and eventual loss of voluntary muscle control. 
      Biallelic mutations in the PLA2G6 gene have been identified as the most frequent 
      cause of INAD. We highlight the salient features of INAD molecular pathology and 
      the progress made in molecular diagnostics. We reiterate that enhanced molecular 
      diagnostic methodologies such as targeted gene panel testing, exome sequencing, 
      and whole genome sequencing can help ascertain a molecular diagnosis. We describe 
      how the defective catalytic activity of the PLA2G6 gene could be potentially 
      overcome by enzyme replacement or gene correction, giving examples and challenges 
      specific to INAD. This is expected to encourage steps toward developing and 
      testing emerging therapies that might alleviate INAD progression and help realize 
      objectives of patient formed organizations such as the INADcure Foundation.
FAU - Babin, Patricia L
AU  - Babin PL
AD  - Rare Genomics Institute, Downey, CA, United States.
FAU - Rao, Sudheendra N R
AU  - Rao SNR
AD  - Rare Genomics Institute, Downey, CA, United States.
FAU - Chacko, Anita
AU  - Chacko A
AD  - Rare Genomics Institute, Downey, CA, United States.
FAU - Alvina, Fidelia B
AU  - Alvina FB
AD  - Rare Genomics Institute, Downey, CA, United States.
FAU - Panwala, Anil
AU  - Panwala A
AD  - INADcure Foundation, Fairfield, NJ, United States.
FAU - Panwala, Leena
AU  - Panwala L
AD  - INADcure Foundation, Fairfield, NJ, United States.
FAU - Fumagalli, Danielle C
AU  - Fumagalli DC
AD  - Rare Genomics Institute, Downey, CA, United States.
LA  - eng
PT  - Journal Article
DEP - 20181210
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC6295457
OTO - NOTNLM
OT  - CRISPR/Cas9
OT  - enzyme replacement therapy
OT  - exome sequencing
OT  - infantile neuroaxonal dystrophy
OT  - rare disease
OT  - vector gene therapy
EDAT- 2019/01/09 06:00
MHDA- 2019/01/09 06:01
PMCR- 2018/12/10
CRDT- 2019/01/09 06:00
PHST- 2018/02/15 00:00 [received]
PHST- 2018/11/15 00:00 [accepted]
PHST- 2019/01/09 06:00 [entrez]
PHST- 2019/01/09 06:00 [pubmed]
PHST- 2019/01/09 06:01 [medline]
PHST- 2018/12/10 00:00 [pmc-release]
AID - 10.3389/fgene.2018.00597 [doi]
PST - epublish
SO  - Front Genet. 2018 Dec 10;9:597. doi: 10.3389/fgene.2018.00597. eCollection 2018.