Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Author
:
RB Hufnagel
G Arno
ND Hein
J Hersheson
M Prasad
Y Anderson
LA Krueger
LC Gregory
C Stoetzel
TJ Jaworek
S Hull
A Li
Plagnol V
CM Willen
TM Morgan
CA Prows
RS Hegde
S Riazuddin
GA Grabowski
RJ Richardson
K Dieterich
T Huang
T Revesz
JP Martinez-Barbera
RA Sisk
C Jefferies
H Houlden
MT Dattani
JK Fink
H Dollfus
AT Moore
ZM Ahmed
Abstract
:

Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause.
Year of Publication
:
2015
Journal
:
Journal of medical genetics
Volume
:
52
Issue
:
2
Number of Pages
:
85-94
ISSN Number
:
0022-2593
URL
:
https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=25480986
DOI
:
10.1136/jmedgenet-2014-102856
Short Title
:
J Med Genet
Download citation