- •In-depth review of neuropathy characteristics in PHARC syndrome
- •PHARC syndrome can be expressed as a typical demyelinating CMT for years.
- •Consider PHARC in demyelinating polyneuropathy with hearing loss and retinopathy
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- A novel Refsum-like disorder that maps to chromosome 20.Neurology. 2009; 72: 20-27
- Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism.Am. J. Hum. Genet. 2010; 87: 410-417
- Exome sequencing extends the phenotypic Spectrum for ABHD12 mutations from syndromic to nonsyndromic retinal degeneration.Ophthalmology. 2014; 121: 1620-1627
- Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.Orphanet. J. Rare Dis. 2012; 7: 59
- Novel ABHD12 mutations in PHARC patients.Ann. Otol. Rhinol. Laryngol. 2015; 124: 77S-83S
- A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.J. Peripher. Nerv. Syst. 2017; 22: 77-84
- Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.Lancet Neurol. 2009; 8: 654-667
- Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Neurology. 2013; 81: 1617-1625
- Audiological findings in Charcot–Marie–Tooth disease type 4C.J. Int. Adv. Otol. 2017; 13: 93-99
- Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).Am. J. Hum. Genet. 2007 Sep; 81: 552-558
- Heredoataxia hemeralopica polyneuritiformis.Nord. Med. 1945; 28: 2682-2685
- Refsum disease.in: Adam M.P. Ardinger H.H. Pagon R.A. Wallace S.E. LJH Bean Mefford H.C. GeneReviews. Seattle (WA). 1993
- Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.Neurol. Sci. 2004; 25: 72-82
- A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol.Chem. Biol. 2007 Dec; 14: 1347-1356
- Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).J. Lipid Res. Nov 12, 2012; 53 (Internet). Available from:: 2413-2424
- ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC.Proc. Natl. Acad. Sci. 2013; 110: 1500-1505
- Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.Neurobiol. Dis. 2017; 98: 36-51