Neurology of inherited glycosylation disorders
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2563261
- author
- Freeze, Hudson H. ; Eklund, Erik LU ; Ng, Bobby G. and Patterson, Marc C.
- organization
- publishing date
- 2012
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Lancet Neurology
- volume
- 11
- issue
- 5
- pages
- 453 - 466
- publisher
- Lancet Publishing Group
- 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
- 2016-04-01 10:56:48
- date last changed
- 2022-04-28 02:51:55
@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 Publishing Group}},
series = {{Lancet Neurology}},
title = {{Neurology of inherited glycosylation disorders}},
url = {{http://dx.doi.org/10.1016/S1474-4422(12)70040-6}},
doi = {{10.1016/S1474-4422(12)70040-6}},
volume = {{11}},
year = {{2012}},
}