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Neurology of inherited glycosylation disorders

Freeze, Hudson H.; Eklund, Erik LU ; Ng, Bobby G. and Patterson, Marc C. (2012) In Lancet Neurology 11(5). p.453-466
Abstract
Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The... (More)
Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorder of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Lancet Neurology
volume
11
issue
5
pages
453 - 466
publisher
Lancet Ltd
external identifiers
  • wos:000303138300016
  • scopus:84859849103
ISSN
1474-4465
DOI
10.1016/S1474-4422(12)70040-6
language
English
LU publication?
yes
id
b543142e-2e93-448e-b643-5b26bfd107b6 (old id 2563261)
date added to LUP
2012-06-01 08:49:33
date last changed
2017-09-17 04:05:22
@article{b543142e-2e93-448e-b643-5b26bfd107b6,
  abstract     = {Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorder of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.},
  author       = {Freeze, Hudson H. and Eklund, Erik and Ng, Bobby G. and Patterson, Marc C.},
  issn         = {1474-4465},
  language     = {eng},
  number       = {5},
  pages        = {453--466},
  publisher    = {Lancet Ltd},
  series       = {Lancet Neurology},
  title        = {Neurology of inherited glycosylation disorders},
  url          = {http://dx.doi.org/10.1016/S1474-4422(12)70040-6},
  volume       = {11},
  year         = {2012},
}